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Articles de revues sur le sujet « Desmoid tumor »

Auteur : Grafiati

Publié le 1 février 2025

Mis à jour le 5 juillet 2025

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1

Ramonaitė, Justė, Gabija Imbrasaitė, Alfredas Smailys, Mindaugas Stravinskas, and Vėtra Markevičiūtė. "THE NEED FOR MULTIPLE SURGERIES FOR FREQUENT DESMOID TUMOR RECURRENCE." Health Sciences 33, no. 5 (2023): 39–43. http://dx.doi.org/10.35988/sm-hs.2023.176.

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Desmoid tumors are very rare mesenchymal neoplasms with an estimated incidence of 3 per 100 soft tissue tumor cases. They are locally invasive, aggressive and cause significant complications. The treatment modalities of desmoids include surgery, radiotherapy, chemotherapy, hormonal therapy. Currently there is no gold standard and neither therapy is effective for high recurrence (25‑77%) desmoid tumors. Desmoid tumors also have the capacity for self-limitation and, therefore, no treatment other than observation is possible expecting spontaneous regression. Treatment options for desmoid tumors are limited and assessment of treatment effects remains an unresolved issue due to no standard validated response criteria available.

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Koshariya, Mahim, Samir Shukla, Zuber Khan, et al. "Giant Desmoid Tumor of the Anterior Abdominal Wall in a Young Female: A Case Report." Case Reports in Surgery 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/780862.

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Desmoid tumors (also called desmoids fibromatosis) are rare slow growing benign and musculoaponeurotic tumors. Although these tumors have a propensity to invade surrounding tissues, they are not malignant. These tumors are associated with women of fertile age, especially during and after pregnancy. We report a young female patient with a giant desmoid tumor of the anterior abdominal wall who underwent primary resection. The patient had no history of an earlier abdominal surgery. Preoperative evaluation included abdominal ultrasound, computed tomography, and magnetic resonance imaging. The histology revealed a desmoid tumor. Primary surgical resection with immediate reconstruction of abdominal defect is the best management of this rarity. To the best of our knowledge and PubMed search, this is the first case ever reported in the medical literature of such a giant desmoid tumor arising from anterior abdominal wall weighing 6.5 kg treated surgically with successful outcome.

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Khandelwal, Niranjan, Mandeep Garg, Nidhi Prabhakar, and Divya Dahiya. "Desmoid Tumor: Rare Abdominal Wall Lump in a Multiparous Woman." Journal of Postgraduate Medicine, Education and Research 52, no. 1 (2018): 31–33. http://dx.doi.org/10.5005/jp-journals-10028-1271.

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ABSTRACT Background Desmoids are rare tumors. Abdominal wall desmoids are more common in women of reproductive age, especially postpartum women. Here we present a case of desmoid tumor in a 37-year-old multiparous woman, who came with the complaint of a slowly growing painless abdominal lump. Case report A 37-year-old multiparous female presented with the complaint of a gradually increasing, painless abdominal lump. On physical examination, a well-defined, firm, mobile mass was palpated in the suprapubic region. Ultrasound revealed a homogeneous hypoechoic lesion in the right anterolateral abdominal wall. Computed tomography (CT) of the abdomen showed a well-defined homogeneous mass in relation to the inferior aspect of right rectus abdominis muscle. These clinical and imaging features were highly suggestive of abdominal wall desmoid, which was confirmed on fine needle aspiration cytology and postoperative tumor histopathology. Discussion Desmoids are uncommon benign, locally aggressive fibrous lesions that have an insidious course. Conventionally, these are classified as abdominal desmoids (occurring in abdominal wall, mesentery, or retroperitoneum) and extra-abdominal desmoids (affecting shoulder girdle, trunk, lower extremities, etc.). The definitive diagnosis of desmoid has to be established on histopathology. Wide local excision remains the definitive treatment of abdominal wall desmoids. Radiation therapy, chemotherapy, and endocrine therapy are the other treatment options. How to cite this article Garg M, Prabhakar N, Prakash M, Dahiya D, Khandelwal N. Desmoid Tumor: Rare Abdominal Wall Lump in a Multiparous Woman. J Postgrad Med Edu Res 2018;52(1):31-33.

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MINAMI, YUSUKE, SEIICHI MATSUMOTO, KEISUKE AE, et al. "The Clinical Features of Multicentric Extra-abdominal Desmoid Tumors." Cancer Diagnosis & Prognosis 1, no. 4 (2021): 339–43. http://dx.doi.org/10.21873/cdp.10045.

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Background: Extra-abdominal desmoid tumors often occur in the necks, shoulder, chest wall, back, arm, buttock, thigh and leg. Multicentric extra-abdominal desmoids are rather rare and seem to have other clinical features. The aim of our study was to investigate clinical features, especially multicentric occurrence of extra-abdominal desmoid tumors. Patients and Methods: A total of 135 patients diagnosed with extra-abdominal desmoid were enrolled in this study from January 2005 to December 2019 at the Cancer Institute Hospital of The Japanese Foundation for Cancer Research. The operative procedure was principally wide excision. The clinicopathological factors [e.g., age, gender, pain, restriction of range of motion (ROM), tumor site, tumor size, surgical margin, multicentric occurrence, local recurrence, tumoral regression] were collected and assessed by univariate analysis. We assessed how multicentric occurrence influenced clinicopathological factors of desmoid tumors. Results: The median follow-up was 39.9 months (range=0.29-259 months). Among 135 patients, 20 had multicentric occurrence. Multicentric extra-abdominal desmoids occurred in the neck in six cases, shoulder in four, chest wall in three, back in three, thigh in two and leg in two. In the case of multicentric occurrence on thighs and legs, tumors arose not in the anterior compartment but in the posterior compartment. Univariate analysis showed association of multicentric extra-abdominal desmoids with high local recurrence (p=0.0003), restriction of ROM (p=0.0012) and tumor size larger than 5 cm (p=0.04) but surgical margins were not correlated with local recurrence (p=0.37). Conclusion: Surgery should be performed in those who have severe pain or restriction of ROM. A 'Wait and see' policy is a first-line management, especially for those with multicentric extra-abdominal desmoids.

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Salas, Sébastien, Armelle Dufresne, Binh Bui, et al. "Prognostic Factors Influencing Progression-Free Survival Determined From a Series of Sporadic Desmoid Tumors: A Wait-and-See Policy According to Tumor Presentation." Journal of Clinical Oncology 29, no. 26 (2011): 3553–58. http://dx.doi.org/10.1200/jco.2010.33.5489.

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Purpose Desmoid tumors are mesenchymal fibroblastic/myofibroblastic proliferations with locoregional aggressiveness and high ability to recur after initial treatment. We present the results of the largest series of sporadic desmoid tumors ever published to determine the prognostic factors of these rare tumors. Patients and Methods Four hundred twenty-six patients with a desmoid tumor at diagnosis were included, and the following parameters were studied: age, sex, delay between first symptoms and diagnosis, tumor size, tumor site, previous history of surgery or trauma in the area of the primary tumor, surgical margins, and context of abdominal wall desmoids in women of child-bearing age during or shortly after pregnancy. We performed univariate and multivariate analysis for progression-free survival (PFS). Results In univariate analysis, age, tumor size, tumor site, and surgical margins (R2 v R0/R1) had a significant impact on PFS. PFS curves were not significantly different for microscopic assessment of surgical resection quality (R0 v R1). In multivariate analysis, age, tumor size, and tumor site had independent values. Three prognostic groups for PFS were defined on the basis of the number of independent unfavorable prognostic factors (0 or 1, 2, and 3). Conclusion This study clearly demonstrates that there are different prognostic subgroups of desmoid tumors that could benefit from different therapeutic strategies, including a wait-and-see policy.

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Leal, Raquel Franco, Patricia V. V. Tapia Silva, Maria de Lourdes Setsuko Ayrizono, João José Fagundes, Eliane M. Ingrid Amstalden, and Cláudio Saddy Rodrigues Coy. "Desmoid tumor in patients with familial adenomatous polyposis." Arquivos de Gastroenterologia 47, no. 4 (2010): 373–78. http://dx.doi.org/10.1590/s0004-28032010000400010.

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CONTEXT: Desmoid tumors constitute one of the most important extraintestinal manifestations of familial adenomatous polyposis. The development of desmoids is responsible for increasing morbidity and mortality rates in cases of familial adenomatous polyposis. OBJECTIVES: To evaluate the occurrence of desmoid tumors in familial adenomatous polyposis cases following prophylactic colectomy and to present patient outcome. METHODS: Between 1984 and 2008, 68 patients underwent colectomy for familial adenomatous polyposis at the School of Medical Sciences Teaching Hospital, University of Campinas, SP, Brazil. Desmoid tumors were found in nine (13.2%) of these patients, who were studied retrospectively by consulting their medical charts with respect to clinical and surgical data. RESULTS: Of nine patients, seven (77.8%) were submitted to laparotomy for tumor resection. Median age at the time of surgery was 33.9 years (range 22-51 years). Desmoid tumors were found in the abdominal wall in 3/9 cases (33.3%) and in an intra-abdominal site in the remaining six cases (66.7%). Median time elapsed between ileal pouch-anal anastomosis and diagnosis of desmoid tumor was 37.5 months (range 14-60 months), while the median time between colectomy with ileorectal anastomosis and diagnosis was 63.7 months (range 25-116 months). In 6/9 (66.7%) patients with desmoid tumors, the disease was either under control or there was no evidence of tumor recurrence at a follow-up visit made a mean of 63.1 months later (range 12-240 months). CONCLUSIONS: Desmoid tumors were found in 13.2% of cases of familial adenomatous polyposis following colectomy; therefore, familial adenomatous polyposis patients should be followed-up and surveillance should include abdominal examination to detect signs and symptoms. Treatment options include surgery and clinical management with antiestrogens, antiinflammatory drugs or chemotherapy.

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Makarenko, M. V., D. O. Govseyev, S. V. Gridchin, et al. "Desmoid tumor of the anterior abdominal wall in a female (Clinical case)." HEALTH OF WOMAN, no. 5(131) (June 30, 2018): 116–18. http://dx.doi.org/10.15574/hw.2018.131.116.

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Desmoid tumors (also called desmoids fibromatosis) are rare slow growing benign and musculoaponeurotic tumors. Although these tumors have a propensity to invade surrounding tissues, they are not malignant. These tumors are associated with women of fertile age, especially during and after pregnancy and postoperative surgeries. Our clinical case is interesting because of the rarity of the pathology and the difficulties in setting the correct diagnosis. The patient, with a history of laparoscopic myomectomy (2012), was preparing for a routine surgery for the endometrioma of the anterior abdominal wall, according to the results of the ultrasound and computed tomography. After surgical treatment, the final diagnosis was changed, based on the histological findings. Key words: desmoid tumor, abdominal wall tumor, fibroid.

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Boceska, Zhaneta P., Katerina B. Kubelka-Sabit, and Julija Zh Zhivadinovik. "FIBROMATOSIS (DESMOID TUMOR) OF THE BREAST. Fibromatosis (tumor desmoide) de mama." Revista Argentina de Anatomía Clínica 3, no. 2 (2016): 99–105. http://dx.doi.org/10.31051/1852.8023.v3.n2.13926.

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El tumor desmoide (fibromatosis) es una entidad patológica extremadamente rara que se desarrolla de la fascia muscular y la aponeusorsis. Aunque sin potencial metastático, estos tumores son localmente muy agresivos y tienden a infiltrarse en los tejidos circundantes. Nosotros presentamos un caso de tumour desmoide de mama, que tuvo apariencias clínicas sugestivas a carcinoma. La paciente, de 56 años presentó una masa palpable de mama derecho. La citología por aspiracion con aguja fina (AGF) no detectó ninguna célula maligna, por lo que se hizo una escisión local conservadora. La paciente no recibió ningun tratamiento postoperatorio adicional, y continúa viva y sana en los siguientes 18 meses. Desmoid tumor (fibromatosis) is extremely rare benign pathological entity that develops from muscular fasciae and aponeuroses. Although without metastatic potential, these tumors are locally very aggressive and tend to infiltrate the surrounding tissues. We present a case of a desmoid tumor of the breast that had clinical appearance suggestive of carcinoma. The patient was 56 years old female with a previous history of surgical trauma who presented with a palpable mass in the right breast. A fine needle aspiration (FNA) cytology did not reveal any malignant cells, thus conservative local excision was performed. The patient did not receive any additional postoperative treatment and was alive and free of disease after 18 months of follow-up.

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Murshid, Areen Abdulelah, and Hatim Q. Al-Maghraby. "Subsequent Development of Desmoid Tumor after a Resected Gastrointestinal Stromal Tumor." Case Reports in Pathology 2018 (2018): 1–5. http://dx.doi.org/10.1155/2018/1082956.

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Desmoid tumors (deep fibromatosis) of the mesentery are rare mesenchymal tumors. They are often misdiagnosed, especially with a previous history of resection for gastrointestinal stromal tumor (GIST). Immunohistochemistry can help differentiate between these two tumors. In this article, we present a case we had encountered: a Desmoid tumor developing in a patient with a history of GIST 3 years ago. It is the first case of GIST with subsequent development of Desmoid tumor to be reported in Saudi Arabia. We discuss the two entities of Desmoid tumor and GIST by comparing their definitions, clinical presentations, histological features, immunohistochemistry stains, molecular pathogenesis, prognosis, and treatment. We also discuss the relationship between GIST and the subsequent development of Desmoid tumors and compare our case with case reports in literature.

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Mercier, Kelly A., and Darragh M. Walsh. "The initiation, design, and establishment of the Desmoid Tumor Research Foundation Patient Registry and Natural History Study." Rare Tumors 11 (January 2019): 203636131988097. http://dx.doi.org/10.1177/2036361319880978.

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Desmoid tumors are locally invasive sarcoma, affecting 5–6 individuals out of 1,000,000 per year. The desmoid tumors have high rates of recurrence after resection and can lead to significant deterioration of the quality of life of patients. There is a need for a better understanding of the desmoid tumors’ patient experience from first symptoms through diagnosis, disease monitoring, and clinical treatment options. With the National Organization of Rare Disorders, the Desmoid Tumor Research Foundation Natural History Study was designed to be collected through the registry. This article describes the protocol for the Desmoid Tumor Research Foundation Natural History Study and some initial findings. The Desmoid Tumor Research Foundation Natural History Study Advisory Committee developed a series of questionnaires and longitudinal surveys, in addition to those from the National Organization of Rare Disorders for all of the rare diseases. These 13 surveys are designed to uncover initial symptoms, diagnosis process, disease monitoring, quality of life, treatments, as well as socioeconomic information. Since launching the Desmoid Tumor Research Foundation Registry and Natural History Study ( https://dtrf.iamrare.org ), more than 300 desmoid tumor patients have consented to the Desmoid Tumor Research Foundation Natural History Study and completed the Participant Profile. The majority of the respondents are between the ages of 21 and 50 years (76%), female (81.2%), White (91.5%), and live in the United States (47.1%). The majority of tumors are in the lower or upper extremity, (22.9%) followed closely by abdominal desmoid tumors (21.5%). Most are willing to donate specimens (89.9%) and participate in trials (97.2%). Ongoing efforts are addressing the demographic differences between the respondents and non-respondents and any selection bias based on access to the registry and study. The Desmoid Tumor Research Foundation Natural History Study is built on the largest desmoid tumors registry and has recruited more desmoid tumors participants since launching in September 2017. It will serve to fill desmoid tumors knowledge gaps and assist other researchers in their recruitment efforts for additional studies.

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Nath, Meryl C., Michael S. Torbenson, and Lori A. Erickson. "Desmoid Tumor." Mayo Clinic Proceedings 93, no. 4 (2018): 549–50. http://dx.doi.org/10.1016/j.mayocp.2018.02.009.

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Berri, Richard N., Donald P. Baumann, John E. Madewell, Alexander Lazar, and Raphael E. Pollock. "Desmoid Tumor." Annals of Plastic Surgery 67, no. 5 (2011): 551–64. http://dx.doi.org/10.1097/sap.0b013e3182084cf6.

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&NA;. "Desmoid tumor." Advances in Anatomic Pathology 5, no. 3 (1998): 184. http://dx.doi.org/10.1097/00125480-199805000-00021.

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Ataizi, Zeki Serdar, Gulay Simsek, Fulya Colak Ataizi, and Serdar Ercan. "Does A Vertebra Fracture Cause A Tumor? A Dorsolumbar Paraspinal Desmoid Tumor: Case Report." Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 39, no. 01 (2020): 058–60. http://dx.doi.org/10.1055/s-0039-3399538.

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AbstractExtraabdominal desmoid tumors are uncommon soft-tissue tumors. The etiology of the tumor is still unclear. Injury is one of the etiological factors of soft-tissue tumors. A 41-year-old female patient who had a traumatic vertebral body fracture on the thoracic spine was treated conservatively. Two and a half years later, she presented a painful, palpable swelling on the thoracolumbar region. In the present report, was discuss the patient, who underwent a surgery to remove the desmoid tumor (aggressive fibromatosis), within the context of the current literature. The literature on desmoid tumor caused by a trauma is rare. This is the first case that demonstrates an extraabdominal desmoid tumor following a spinal fracture. The swelling on the region of the trauma must be examined carefully and desmoid tumor must be kept in mind as a possible diagnosis.

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Singh, Neeraj, Rohit Sharma, Sanford A. Dorman, and Victor C. Dy. "An Unusual Presentation of Desmoid Tumor in the Ileum." American Surgeon 72, no. 9 (2006): 821–24. http://dx.doi.org/10.1177/000313480607200911.

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Desmoid tumors are nonencapsulated, locally invasive tumors of fibrous origin. Although lacking the ability to metastasize, they are notorious for recurrence. A wide variety of locations have been documented in the literature with respect to the origin of these tumors. Intra-abdominal desmoids are commonly found in the mesentery. We present the report of a case in which a sporadic desmoid tumor originated from the wall of the ileum. The patient was successfully treated with surgery alone, and has remained recurrence free on follow-up. Modalities of treatment documented in the literature include surgery, nonsteroidal, anti-inflammatory drugs such as sulindac, and chemotherapeutic drugs such as vinblastine and methotrexate, radiotherapy, and, recently, tyrosine kinase inhibitors such as Imatinib (gleevec). Of all the options described, surgery with tumor-free margins has been defined as the best treatment modality.

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Slavnova, E. N., E. K. Saribekyan, V. S. Surkova, D. R. Ortabaeva, O. B. Goryushkina, and A. N. Petrov. "COMPLEX MORPHOLOGICAL (CYTOLOGICAL, HISTOLOGICAL) DIAGNOSTICS OF DESMOID FIBROMA ASSOCIATED WITH A BREAST IMPLANT (CASE REPORT FROM PRACTICE)." Russian Clinical Laboratory Diagnostics 65, no. 4 (2020): 228–30. http://dx.doi.org/10.18821/0869-2084-2020-65-4-228-230.

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A rare clinical observation of desmoid fibroma associated with a breast implant is presented. When making a morphological (cytological, histological) diagnosis at the light-optical level before surgery, a differential morphological diagnosis was performed between cicatricial changes, the stromal component of the phyloid tumor and desmoid fibroma. Only immunohistochemistry allowed us to establish a diagnosis of desmoid fibroma, since tumor cells expressed diffusely SMA, focally desmin, and most importantly, ß-catenin expression was observed in some cells.

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Li, Luyuan, John N. Jensen, Sara Szabo, Peter VanTuinen, and Sean M. Lew. "Recurrent giant cranial desmoid tumor in a 3-year-old boy with familial adenomatous polyposis requiring bifrontoparietal cranioplasty: case report." Journal of Neurosurgery: Pediatrics 18, no. 6 (2016): 703–7. http://dx.doi.org/10.3171/2016.6.peds15741.

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Desmoid tumors, also known as aggressive fibromatosis, are locally infiltrating musculoaponeurotic neoplasms arising in connective tissues. Desmoid tumors may be associated with familial adenomatous polyposis (FAP), a genetic disorder that presents with hundreds to thousands of precancerous colorectal polyps. The authors report the case of an 18-month-old boy who underwent resection of a right temporal desmoid tumor (initially diagnosed as cranial fasciitis) and developed a bilateral frontoparietal calvarial desmoid tumor 2 years later. The patient underwent gross-total resection of the tumor that required a large cranioplasty. He was subsequently diagnosed with FAP. The patient has been without tumor recurrence for 9 years afterwards and has not required revision of his cranioplasty. This is the first report describing a recurrent cranial desmoid tumor in a pediatric patient with FAP. The authors believe, however, that some of the cases previously reported as cranial fasciitis are likely desmoid tumors pathobiologically and genetically.

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Andino, Lizmarie, Philip T. Cagle, Bruno Murer та ін. "Pleuropulmonary Desmoid Tumors: Immunohistochemical Comparison With Solitary Fibrous Tumors and Assessment of β-Catenin and Cyclin D1 Expression". Archives of Pathology & Laboratory Medicine 130, № 10 (2006): 1503–9. http://dx.doi.org/10.5858/2006-130-1503-pdticw.

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Abstract Context.—Desmoid tumors arising in the lung and pleura are extremely rare and can resemble other, more common neoplasms native to these sites. Alterations of the adenomatous polyposis coli/β-catenin pathway have been detected in sporadic desmoid tumors and have been associated with nuclear accumulation of β-catenin and overexpression of cyclin D1. Objective.—To analyze the expression of β-catenin and cyclin D1 in desmoid tumors and solitary fibrous tumors (SFTs), and to compare the utilities of these substances for distinguishing between these entities with those of other, more commonly used stains. Design.—Formalin-fixed, paraffin-embedded sections of 4 desmoid tumors (1 pulmonary, 1 pleural, 2 pleural/chest wall), and 5 benign and 6 malignant SFTs of the pleura were immunostained for β-catenin, cyclin D1, ALK1, CD34, vimentin, desmin, smooth muscle actin, muscle-specific actin, S100, and pancytokeratin. Staining intensity and the percentage of stained tumor cells were assessed semiquantitatively. Results.—Diffuse moderate or strong nuclear staining for β-catenin was found in all desmoid tumors, 4 of 5 benign SFTs, and 2 of 6 malignant SFTs. All cases except 1 benign SFT showed concurrent cytoplasmic staining. Nuclear and cytoplasmic cyclin D1 staining was increased in all groups. The best distinction between desmoid tumors and SFTs was provided by CD34 (desmoid tumors, 0/4; SFTs, 8/11) and smooth muscle actin (desmoid tumors, 4/4; SFTs, 0/11). Conclusions.—Our findings suggest that alterations in the adenomatous polyposis coli/β-catenin pathway and cyclin D1 dysregulation may contribute to the pathogenesis of pleuropulmonary desmoid tumors and SFTs. CD34 and smooth muscle actin stains are particularly useful for differentiating between pleuropulmonary desmoid tumors and SFTs.

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Lev, Dina, Dhanasekaran Kotilingam, Caimiao Wei, et al. "Optimizing Treatment of Desmoid Tumors." Journal of Clinical Oncology 25, no. 13 (2007): 1785–91. http://dx.doi.org/10.1200/jco.2006.10.5015.

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Purpose This study compared a large series of desmoid patients treated at a single institution to a previously published series from the same institution to determine if patient population characteristics, treatment approaches, and clinical outcomes had undergone change over the two study periods. Materials and Methods Data from a prospective soft tissue tumor database was used to analyze clinical courses of 189 desmoid patients treated at The University of Texas M.D. Anderson Cancer Center (UTMDACC) from 1995 to 2005 as compared with 189 UTMDACC desmoid patients treated between 1965 and 1994. Results A nearly three-fold increase in annualized UTMDACC desmoid referral volume with significantly higher percentages and numbers of primary desmoid tumor referrals to UTMDACC was observed in the most recent study period. Significantly increased systemic therapy use and decreased reliance on surgery alone was observed more recently. While the recent series patients had higher rates of macroscopic residual disease and equivalent rates of positive microscopic margins after definitive surgery, the estimated 5-year local recurrence rate of 20% was improved compared with the 30% rate observed in the earlier series. Conclusion Increased awareness of the complex multidisciplinary management needed for desmoid tumor control may underlie significantly increased numbers of referrals to UTMDACC, especially primary untreated desmoids. Increased neoadjuvant treatments may be associated with improved desmoid patient outcomes. These trends should be supported, particularly if personalized molecular-based therapies are to be rapidly and effectively deployed for the benefit of those afflicted by this rare and potentially debilitating disease.

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Santos, Daniel Britto, Jomar Rezende, Arthur Mendes Gasperini, et al. "Tumor Desmóide: Relato de Caso / Desmoid Tumor: A Case Report." Brazilian Journal of Development 7, no. 11 (2021): 101782–92. http://dx.doi.org/10.34117/bjdv7n11-005.

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Chan, David, Jason Kaplan, Gary Gordon, and Jayesh Desai. "Activity of the Gamma Secretase Inhibitor AL101 in Desmoid Tumors: A Case Report of 2 Adult Cases." Current Oncology 28, no. 5 (2021): 3659–67. http://dx.doi.org/10.3390/curroncol28050312.

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Desmoid tumors (aggressive fibromatosis) are soft tissue mesenchymal tumors that can be locally invasive and life-threatening. Depending on the location, these tumors are often unresectable or tend to recur after surgery. To date, there are no approved systemic therapies for desmoid tumors. These tumors typically harbor mutations in the β-catenin oncogene CTNNB1 or the tumor suppressor gene adenomatous polyposis coli, resulting in constitutive activation of the WNT pathway. The Notch pathway is part of the underlying cause for desmoid tumor development, possibly due to crosstalk with the WNT pathway, providing a rationale for Notch inhibition as a therapeutic strategy. The gamma secretase activation of the Notch receptor can be targeted with investigational gamma secretase inhibitors. In this case report, we follow the course of 2 patients with desmoid tumors treated with the highly potent, parenterally administered investigational gamma secretase inhibitor AL101, resulting in long-lasting responses. Case 1 reports on a patient with a mesenteric desmoid tumor who participated in a phase 1 trial and then transitioned into a compassionate use program; Case 2 reports on a patient with recurrent pelvic tumors receiving AL101 through a compassionate use program. After tumor progression on other systemic therapies, Cases 1 and 2 had confirmed partial responses (41% and 60% maximal tumor size decrease from baseline) recorded after 1.0 and 1.6 years of treatment with AL101, with a duration of response of 8.6+ and 2.6+ years, respectively. Also, in a phase 1 study of AL102, a potent orally administered gamma secretase inhibitor that shares structural features with AL101, a patient with a desmoid tumor was noted to have tumor shrinkage. Formal clinical testing of AL102 for the treatment of patients with desmoid tumors that are not amenable to surgery or are refractory to/recurrent from other prior therapies is currently underway.

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Mallouh, Ahmad A. "Congenital Desmoid Tumor." Annals of Saudi Medicine 13, no. 5 (1993): 477–78. http://dx.doi.org/10.5144/0256-4947.1993.477.

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D’Hooghe, L., S. Dekeyzer, T. Dewaele, K. Gieraerts, and K. Coenegrachts. "Intrathoracic Desmoid Tumor." Journal of the Belgian Society of Radiology 99, no. 1 (2015): 123–24. http://dx.doi.org/10.5334/jbr-btr.834.

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Soysal, O., and H. I. Libshitz. "Diaphragmatic desmoid tumor." American Journal of Roentgenology 166, no. 6 (1996): 1496–97. http://dx.doi.org/10.2214/ajr.166.6.8633477.

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Pignatti, G., G. Barbanti-Br??dano, D. Ferrari, et al. "Extraabdominal Desmoid Tumor." Clinical Orthopaedics and Related Research 375 (June 2000): 207–13. http://dx.doi.org/10.1097/00003086-200006000-00025.

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Romaní, Jorge, Mireia Yébenes, Oscar Escuder, et al. "Cutaneous Desmoid Tumor." Dermatologic Surgery 35, no. 10 (2009): 1582–87. http://dx.doi.org/10.1111/j.1524-4725.2009.01280.x.

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Anderson, Timothy, Gregory S. Weinstein, John Harwick, and David I. Rosenthal. "Hypopharyngeal Desmoid Tumor." Otolaryngology–Head and Neck Surgery 123, no. 3 (2000): 279–81. http://dx.doi.org/10.1067/mhn.2000.104521.

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Pereyo, Neville G., and William L. Heimer. "Extraabdominal desmoid tumor." Journal of the American Academy of Dermatology 34, no. 2 (1996): 352–56. http://dx.doi.org/10.1016/s0190-9622(07)80007-7.

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Posner, Mitchell C. "The Desmoid Tumor." Archives of Surgery 124, no. 2 (1989): 191. http://dx.doi.org/10.1001/archsurg.1989.01410020061010.

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Gluck, Robert W., Glenn Bloiso, and Jeffrey Glasser. "Paratesticular desmoid tumor." Urology 29, no. 6 (1987): 648–49. http://dx.doi.org/10.1016/0090-4295(87)90114-2.

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Makhson, A. N., N. E. Makhson, and M. Y. Shupak. "Desmoplastic fibroma (desmoid) of the femur: 2 cases." N.N. Priorov Journal of Traumatology and Orthopedics 6, no. 4 (1999): 66–68. http://dx.doi.org/10.17816/vto105618.

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Desmoplastic fibroma (extra-abdominal desmoid) was first identified as an independent nosological form in 1958 by H.L. Jaffe [6]. This tumor differs significantly in its course from the desmoid of the abdominal wall. It has a pronounced ability to infiltrate the surrounding tissues, there are frequent cases of tumor spread to the vessels and nerves. The disease usually affects soft tissues. Extra-abdominal desmoids often occur in the area of the shoulder, chest wall, back, and scapula [1, 6]. Desmoplastic bone fibromas are extremely rare. So, R. Buhm et al. [5] described two cases of this tumor affecting the tibia. According to their data, by 1996 only a few dozen cases of bone lesions were presented in the literature. N.P. Petrovichev [3] described the case of femoral desmoid. In the book by S.T. Zatsepin "Saved surgery for bone tumors" [2] reports on operations on the forearm in two patients with recurrence of desmoplastic fibroma. Surgical interventions were accompanied by resection of the bones of the forearm. The observations are interesting, but in neither case are there any clinical or radiological data that could indicate damage to the bones of the forearm by desmoid, and the author himself does not indicate this. We did not find other publications on desmoplastic bone fibroma in the domestic literature. According to N.N. Petrovichev with reference to the work of H.J. Spjut, published in 1971, only 6 cases of femoral injury were described in the literature by that time.

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Oybek, Davronov, Gippeum Park, Uralboev Ikromjon Erkinovich, and Hwunjae Lee. "A Case Study of Abdominal Wall Desmoid Tumor in a 33-Year-Old Woman." Journal of Medical Imaging 7, no. 1 (2024): 1–5. https://doi.org/10.31916/sjmi2024-01-01.

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Desmoid tumors, also known as aggressive fibromatosis, are rare, benign soft tissue neoplasms characterized by locally invasive growth. These tumors originate from fibroblasts and commonly occur in the abdominal wall, particularly in females of reproductive age. Although desmoid tumors are non-metastatic, they can infiltrate surrounding tissues, leading to significant morbidity and a high recurrence rate following incomplete surgical excision. The exact etiology of desmoid tumors remains unclear; however, genetic mutations, hormonal influences, and trauma are considered contributing factors. In this case study, we present the clinical features, imaging characteristics, diagnosis, and treatment of a desmoid tumor in the abdominal wall of a 35-year-old woman. surgical excision. The exact etiology of desmoid tumors remains unclear; however, genetic mutations, hormonal influences, and trauma are considered contributing factors. In this case study, we present the clinical features, imaging characteristics, diagnosis, and treatment of a desmoid tumor in the abdominal wall of a 35-year-old woman.

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Mizuno, Mari, Yoshiaki Kawaguchi, Aya Kawanishi, et al. "An Intra-Abdominal Desmoid Tumor, Embedded in the Pancreas, Preoperatively Diagnosed as an Extragastric Growing Gastrointestinal Stromal Tumor." Case Reports in Oncology 10, no. 1 (2017): 301–7. http://dx.doi.org/10.1159/000468983.

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A 45-year-old woman was found to have a pancreatic tumor by abdominal ultrasound performed for a medical check-up. Abdominal contrast-enhanced computed tomography showed a hypovascular tumor measuring 30 mm in diameter in the pancreatic tail. Endoscopic ultrasound-guided fine needle aspiration was performed. An extragastric growing gastrointestinal stromal tumor was thereby diagnosed preoperatively, and surgical resection was planned. Laparoscopic surgery was attempted but conversion to open surgery was necessitated by extensive adhesions, and distal pancreatectomy, splenectomy, and partial gastrectomy were performed. The histological diagnosis was an intra-abdominal desmoid tumor. A desmoid tumor is a fibrous soft tissue tumor arising in the fascia and musculoaponeurotic tissues. It usually occurs in the extremities and abdominal wall, and only rarely in the abdominal cavity. We experienced a case with an intra-abdominal desmoid tumor that was histologically diagnosed after laparotomy, which had been preoperatively diagnosed as an extragastric growing gastrointestinal stromal tumor. Although rare, desmoid tumors should be considered in the differential diagnosis of intra-abdominal tumors. Herein, we report this case with a literature review.

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Margarint, Irina Maria, Tammam Youssef, Cristina Filip, et al. "A Rare Case of Neonatal Desmoid Tumor Leading to Severe Aortic Coarctation: Review of Literature and Case Report." Life 15, no. 1 (2025): 123. https://doi.org/10.3390/life15010123.

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Desmoid tumors are a rare entity, especially in the pediatric population. There are no reports of such a tumor in newborns. They are associated with high rates of morbidity and mortality, even though they are benign soft tissue tumors. This is due to them exhibiting locally aggressive growth with the compression or invasion of adjacent structures. Abdominal localization is most commonly reported, although there are reports of mediastinal desmoid tumors. We present the case of a 6-day male patient with a mediastinal desmoid tumor that led to severe aortic coarctation with hemodynamic instability. The tumor also compressed the left pulmonary artery and obstructed the left main bronchus. The initial management consisted of successful emergency surgery with partial resection of the tumor mass and coarctation repair. In the postoperative setting, the patient evolved with severe respiratory dysfunction which was managed with tracheostomy, allowing weaning the child from the mechanical ventilation one month after surgery, along with chemotherapy. We also review the literature, focusing on the management of desmoid tumors.

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Majors, Jaqueline, Nathaniel F. Stoikes, Reza Nejati, and Jeremiah L. Deneve. "Resection and Abdominal Wall Reconstruction of a Desmoid Tumor with Endometrioma Features." Case Reports in Surgery 2016 (2016): 1–4. http://dx.doi.org/10.1155/2016/9453450.

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Desmoid tumors are rare, musculoaponeurotic mesenchymal origin tumors arising from the proliferation of well-differentiated fibroblasts. Desmoid tumors may arise from any location with the abdominal cavity, abdominal wall and extremity locations being most frequent. We present the case of a 35-year-old female with a history of endometriosis who presented palpable abdominal mass and cyclic abdominal pain. Resection was performed for a presumed desmoid soft tissue tumor. Final pathology demonstrated desmoid histology admixed with abdominal wall endometriosis (endometrioma). This unique pathologic finding has only been rarely reported and is discussed with a brief review of the literature.

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Zenzri, Yosr, Yosra Yahyaoui, Lamia Charfi, et al. "The Management of Desmoid Tumors: A Retrospective Study of 30 Cases." International Journal of Surgical Oncology 2020 (July 18, 2020): 1–7. http://dx.doi.org/10.1155/2020/9197216.

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Objectives. Desmoid tumor also called aggressive fibromatosis is a rare type of benign tumor. It is a mesenchymal malignancy without metastatic potential. The standard management is resection, but other options including observation may be discussed. Desmoid-type fibromatosis may occur throughout the body, but the abdominal wall is the most common site. The aim of our study was to assess the clinicoepidemiological profile, prognostic factors, and treatment outcome of desmoid tumors. Methods. A monocentric retrospective study was conducted over a period of 19 years between February 2000 and November 2019 at the oncology department of Salah Azaïz Institute. Our study concerns 30 patients with desmoid tumor. All data regarding patients were obtained from the medical record. Results. Thirty patients were included. The median age was 35 years with a female predominance (sex ratio = 0.07). A palpable mass was the most common complaint (n = 27). Median tumor size was 5 cm. The principal site of involvement was the abdominal wall (n = 14). Surgery was performed in 27 patients. The histopathology reports listed 14 (52%) cases with negative margins and 13 (48%) cases with positive margins. Radiation therapy was performed in 2 patients. One patient received tamoxifen. Local recurrence occurred in 11 patients. Two patients died of their desmoid tumor. Abdominal wall tumors have less risk of recurrence compared with other sites (p=0.047). Macroscopic margin involvement (R2) was the only prognostic factor influencing disease-free-survival (p=0.034). Conclusion. Desmoid tumors are aggressive tumors with a tendency for local recurrence. Abdominal wall tumors have less risk of recurrence. Macroscopic margin involvement was the only prognostic factor that affects disease-free-survival.

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Hapgood, Connie, and Allison DeLong. "Recurrent Enlarging Mesenteric Desmoid Tumor following Remote Surgical Resection." Case Reports in Radiology 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/2312617.

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Intra-abdominal desmoid tumors are commonly associated with genetic syndromes such as familial polyposis coli. Radiological cross imaging studies such as CT and MRI are used in the preoperative work-up of such tumors. Postoperatively, CT and MRI are useful in the assessment of recurrent desmoid tumors. MRI is more accurate in tissue characterization. Where possible, surgical resection remains the standard first-line treatment. For patients where surgery is not possible, or the resection margins are not clear, other forms of treatment are possible. These include hormonal and nonhormonal options. We present a case of a recurrent sporadic intra-abdominal (mesenteric) desmoid tumor. Such an entity is rare with few cases reported in the literature. Treatment options regarding intra-abdominal desmoid tumors will be discussed.

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M. Al-Rekabi, Adel. "Desmoid tumors of the abdominal wall:Two cases report." AL-QADISIYAH MEDICAL JOURNAL 4, no. 6 (2017): 151–55. http://dx.doi.org/10.28922/qmj.2008.4.6.151-155.

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Desmoid tumors are slow growing deep fibromatoses with aggressive infiltration of adjacent tissue but without any metastatic potential.We report on two female patients with desmoid tumor of the abdominal wall who underwent primary resection and proline mesh repair. Bothpatients had a history of an earlier abdominal surgery. Preoperative evaluation included abdominal ultrasound,and computed tomography. The histology in both cases revealed a desmoid tumor.Complete surgical resection and proline mesh repair is the first line management of this tumor entity.

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Liu, Seiya, Bernadette Miramontes, Felipe Ferreira Souza, et al. "Cryoablation as an effective treatment for desmoid tumors: A single-institution case series." Journal of Clinical Oncology 40, no. 16_suppl (2022): e23543-e23543. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e23543.

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e23543 Background: Desmoid tumors are locally invasive mesenchymal neoplasms of fibroblastic origin arising in deep soft tissue. Despite a rare incidence of 2.4-4.3 per one million and an inability to metastasize, desmoid tumors can cause significant morbidity by invading surrounding structures, causing pain, anatomic deformities, and, in some cases, death. Due to the high post-excision recurrence rate (21-29%) and frequent spontaneous regression or stabilization (50-88%), active surveillance is the first-line treatment for desmoid tumors. Most therapeutic agents only achieve tumor stability and response rates of 10-30%. As such, a large subset of patients face disease progression without an effective therapeutic option. In this context, percutaneous cryoablation arises as a novel treatment for desmoid tumors. This retrospective chart review case series aims to describe the effectiveness of cryoablation in the treatment of desmoid tumors. Methods: We retrospectively reviewed medical records of patients with a pathologically confirmed desmoid tumor who received computed tomography (CT) guided percutaneous cryoablation at a single academic hospital between 2010 and 2021. We defined objective response rate (ORR) as the percentage of patients who have partial or complete response to cryoablation. Disease progression (PD), Stable Disease (SD), Partial Response (PR), and Complete Response (CR) were defined per mRECIST criteria. Results: We identified nine patients (8 female, mean age 33) with desmoid tumors who underwent percutaneous cryoablation. The most common tumor location was the abdominal wall (n = 5,) and the median longer axis tumor size was 9.5 cm (range: 4.5-16 cm). Seven patients received previous systemic treatments. Sorafenib (n = 6) was the most common systemic therapeutic option, followed by methotrexate/vinblastine, Adriamycin/dacarbazine, tamoxifen, nirogacestat, and sulindac. Before cryoablation, six of the seven patients receiving systematic therapies had PD; one had SD. After cryoablation, seven underwent post-cryoablation imaging. Mean time to initial post-op follow-up was 38.85 days (range: 22-60 days). Six patients achieved PR (66.67%), one patient maintained SD (11.11%), and two (22.22%) were lost to follow-up. Two patients with PR regressed to SD two and three months after initial post-cryoablation imaging, respectively, and one with SD improved to PR after eleven months. As such, ORR was 71.43% (95% CI: 0.352 to 1.08). Conclusions: Our data support cryoablation as an effective therapy for decreasing tumor burden in multi-treatment resistant desmoid tumor patients. Although larger studies are needed to assess efficacy and safety, with an ORR of over 70% and a disease control rate of over 75%, cryoablation demonstrates promising results without the toxicity of systemic therapy and thus may be an effective strategy for multi-treatment resistant desmoid tumors.

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Borkhataria, Ketan, and Bhargav Shingala. "A Rare Case Desmoid Tumour of Appendix Mimicking a Gastrointestinal Stromal Tumor." International Journal of Science and Research (IJSR) 11, no. 3 (2022): 431–33. http://dx.doi.org/10.21275/sr22309165603.

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Nathenson, Michael J., Junxiao Hu, Ravin Ratan, et al. "Systemic Chemotherapies Retain Antitumor Activity in Desmoid Tumors Independent of Specific Mutations in CTNNB1 or APC: A Multi-institutional Retrospective Study." Clinical Cancer Research 28, no. 18 (2022): 4092–104. http://dx.doi.org/10.1158/1078-0432.ccr-21-4504.

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Abstract Purpose: Determine whether specific CTNNB1 or APC mutations in patients with desmoid tumor were associated with differences in clinical responses to systemic treatments. Experimental Design: We established a multi-institutional dataset of previously treated patients with desmoid tumor across four U.S. sarcoma centers, including demographic and clinicopathologic characteristics, treatment regimens, and clinical and radiographic responses. CTNNB1 or APC mutation status was determined from prior pathology records, or archival tissue was requested and analyzed by Sanger sequencing and/or next-generation sequencing. Evaluable patients with mutation results were analyzed to determine clinical progression-free survival (cPFS), RECIST 1.1 PFS (rPFS), time to next treatment (TTNT), and overall survival (OS). Kaplan–Meier analysis and Cox proportional hazards regression were performed to identify differences in cPFS, rPFS, TTNT, and OS by mutation subtype, desmoid tumor location, and treatment regimen. Results: A total of 259 evaluable patients were analyzed for at least one of the survival outcomes, with 177 patients having mutation data. First- and second-line cPFS, rPFS, and TTNT were not significantly affected by mutation subtype; however, APC-mutant desmoid tumors demonstrated nonstatistically significant inferior outcomes. Extremity/trunk desmoid tumor location and treatment with doxorubicin-based, methotrexate/vinca alkaloids and sorafenib regimens were associated with better clinical outcomes compared with surgery or “other” therapies, including estrogen-receptor blockade and imatinib. OS was significantly worse with APC or CTNNB1 negative/other mutations. Conclusions: Mutation subtype did not affect responses to specific systemic therapies. APC mutations and nonextremity desmoid tumor locations remain prognostic for worse outcomes, and earlier initiation of systemic therapy for these higher-risk desmoid tumors should be prospectively evaluated. See related commentary by Greene and Van Tine, p. 3911

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Sandogji, Hasan, Majdi Ibrahim, and Abdullah Allam. "Huge intrathoracic desmoid tumor." Annals of Thoracic Medicine 4, no. 3 (2009): 146. http://dx.doi.org/10.4103/1817-1737.53350.

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Hashizume, Toshinori, Jun Yamamoto, Masaoki Shimanouchi, Atsushi Hamamoto, Tetsushi Suito, and Shimao Fukai. "Anterior mediastinal desmoid tumor." Journal of the Japanese Association for Chest Surgery 24, no. 6 (2010): 901–5. http://dx.doi.org/10.2995/jacsurg.24.901.

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Alshee, TimorA, AbdulA A. Zahrani, and SheikhM Shafi. "Denovo childhood desmoid tumor." Archives of International Surgery 3, no. 2 (2013): 178. http://dx.doi.org/10.4103/2278-9596.122981.

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Stanek, Kimberly I. "Intra-abdominal Desmoid Tumor." Journal of Diagnostic Medical Sonography 23, no. 4 (2007): 212–14. http://dx.doi.org/10.1177/8756479307304394.

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Bender, Yvonne, Gerd Diederichs, and Marcus Makowski. "Desmoid-Tumor des Rückens." RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren 190, no. 03 (2018): 275–78. http://dx.doi.org/10.1055/s-0043-123474.

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Aggarwal, Deepak, PrasantaRaghab Mohapatra, Usha Dalal, and Niti Singhal. "Intra-thoracic desmoid tumor." Lung India 29, no. 2 (2012): 160. http://dx.doi.org/10.4103/0970-2113.95325.

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Neinstein, Lawrence S. "Life-threatening desmoid tumor." Journal of Adolescent Health Care 11, no. 5 (1990): 453–55. http://dx.doi.org/10.1016/0197-0070(90)90095-j.

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Choi, Jonathan, Evan Walgama, John McClay, Pete S. Batra, and Ron B. Mitchell. "Pediatric Sinonasal Desmoid Tumor." Ear, Nose & Throat Journal 96, no. 10-11 (2017): 417–18. http://dx.doi.org/10.1177/0145561317096010-1120.

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Owens, Christopher L., Rajni Sharma, and Syed Z. Ali. "Deep fibromatosis (desmoid tumor)." Cancer 111, no. 3 (2007): 166–72. http://dx.doi.org/10.1002/cncr.22689.

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