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Journal articles on the topic 'Translocation renal cell carcinoma'

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Author: Grafiati

Published: 11 March 2023

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1

Armah, Henry B., and Anil V. Parwani. "Xp11.2 Translocation Renal Cell Carcinoma." Archives of Pathology & Laboratory Medicine 134, no. 1 (January 1, 2010): 124–29. http://dx.doi.org/10.5858/2008-0391-rsr.1.

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Abstract Xp11.2 translocation renal cell carcinomas (RCCs), a recently recognized distinct subtype, are rare tumors predominantly reported in young patients. They comprise at least one-third of pediatric RCCs, and only few adult cases have been reported. They are characterized by various translocations involving chromosome Xp11.2, all resulting in gene fusions involving the transcription factor E3 (TFE3) gene. In recent years, at least 6 different Xp11.2 translocation RCCs have been identified and characterized at the molecular level. These include a distinctive RCC that bears a translocation with the identical chromosomal breakpoints (Xp11.2, 17q25) and identical resulting ASPL-TFE3 gene fusion as alveolar soft part sarcoma. They typically have papillary or nested architecture and are composed of cells with voluminous, clear, or eosinophilic cytoplasm. Their most distinctive immunohistochemical feature is nuclear labeling for TFE3 protein. Although only limited data are available so far, they are believed to be rather indolent, but there have been increasing, recent reports of an aggressive clinical course in adult cases. The consistent immunohistochemical staining for TFE3 in all RCC with unusual histology, regardless of patient age, is likely to expand the spectrum of Xp11.2 translocation RCC with respect to age, clinical behavior, and molecular abnormalities.

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2

Geller, James I., Pedram Argani, Adebowale Adeniran, Edith Hampton, Angelo De Marzo, Jessica Hicks, and Margaret H. Collins. "Translocation renal cell carcinoma." Cancer 112, no. 7 (2008): 1607–16. http://dx.doi.org/10.1002/cncr.23331.

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3

Kothari, KanchanS, PragatiA Sathe, LeenaP Naik, and BhuvaneshwariM Kandalkar. "Xp11 translocation renal cell carcinoma." Indian Journal of Pathology and Microbiology 56, no. 4 (2013): 471. http://dx.doi.org/10.4103/0377-4929.125383.

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4

Neagu, O., A. Petrescu, G. Berdan, L. Mitrache, S. Varban, P. Argani, and V. Jinga. "Xp11.2 translocation renal cell carcinoma." European Urology Supplements 17, no. 12 (October 2018): e2694. http://dx.doi.org/10.1016/s1569-9056(18)33533-4.

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5

Ross, Hillary, and Pedram Argani. "Xp11 translocation renal cell carcinoma." Pathology 42, no. 4 (June 2010): 369–73. http://dx.doi.org/10.3109/00313021003767348.

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6

Ross, Hillary, Morris Edelman, and Pedram Argani. "Xp11 Translocation Renal Cell Carcinoma." Pathology Case Reviews 15, no. 1 (January 2010): 3–6. http://dx.doi.org/10.1097/pcr.0b013e3181d2cfc2.

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7

Caliò, Anna, Diego Segala, Enrico Munari, Matteo Brunelli, and Guido Martignoni. "MiT Family Translocation Renal Cell Carcinoma: from the Early Descriptions to the Current Knowledge." Cancers 11, no. 8 (August 3, 2019): 1110. http://dx.doi.org/10.3390/cancers11081110.

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The new category of MiT family translocation renal cell carcinoma has been included into the World Health Organization (WHO) classification in 2016. The MiT family translocation renal cell carcinoma comprises Xp11 translocation renal cell carcinoma harboring TFE3 gene fusions and t(6;11) renal cell carcinoma harboring TFEB gene fusion. At the beginning, they were recognized in childhood; nevertheless, it has been demonstrated that these neoplasms can occur in adults as well. In the nineties, among Xp11 renal cell carcinoma, ASPL, PRCC, and SFPQ (PSF) were the first genes recognized as partners in TFE3 rearrangement. Recently, many other genes have been identified, and a wide spectrum of morphologies has been described. For this reason, the diagnosis may be challenging based on the histology, and the differential diagnosis includes the most common renal cell neoplasms and pure epithelioid PEComa/epithelioid angiomyolipoma of the kidney. During the last decades, many efforts have been made to identify immunohistochemical markers to reach the right diagnosis. To date, staining for PAX8, cathepsin K, and melanogenesis markers are the most useful identifiers. However, the diagnosis requires the demonstration of the chromosomal rearrangement, and fluorescent in situ hybridization (FISH) is considered the gold standard. The outcome of Xp11 translocation renal cell carcinoma is highly variable, with some patients surviving decades with indolent disease and others dying rapidly of progressive disease. Despite most instances of t(6;11) renal cell carcinoma having an indolent clinical course, a few published cases demonstrate aggressive behavior. Recently, renal cell carcinomas with TFEB amplification have been described in connection with t(6;11) renal cell carcinoma. Those tumors appear to be associated with a more aggressive clinical course. For the aggressive cases of MiT family translocation carcinoma, the optimal therapy remains to be determined; however, new target therapies seem to be promising, and the search for predictive markers is mandatory.

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8

de Oliveira, C. V. L., G. R. Bechara, S. R. Zacchi, M. C. L. de Miranda, G. Z. Pinho, and M. M. L. de Miranda. "MiT family translocation renal cell carcinoma." Journal of Pediatric Surgery Case Reports 45 (June 2019): 101190. http://dx.doi.org/10.1016/j.epsc.2019.101190.

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9

Argani, Pedram. "MiT family translocation renal cell carcinoma." Seminars in Diagnostic Pathology 32, no. 2 (March 2015): 103–13. http://dx.doi.org/10.1053/j.semdp.2015.02.003.

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10

Bambury, Richard Martin, Claire Brady, Aoife McCarthy, Stewart Fleming, Nicholas J. Mayer, and Derek Gerard Power. "Translocation renal cell carcinomas: An evolving entity." Journal of Clinical Oncology 30, no. 5_suppl (February 10, 2012): 472. http://dx.doi.org/10.1200/jco.2012.30.5_suppl.472.

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472 Background: Translocation renal cell carcinomas (RCCs) are a novel, rare and distinct clinicopathological entity. The term refers to RCCs with overexpression of transcription factor E3 (TFE3) due to translocation involving the Xp11 locus or less commonly with overexpression of transcription factor EB (TFEB) due to a t(6:11) translocation. In children it is estimated that these tumours account for 40% of RCCs but in adults this proportion is estimated to be 1-4%. As these neoplasms are only recently recognised, outcome data are premature. We report 2 cases of translocation RCC in an Irish regional cancer centre and describe clinicopathological characteristics and early outcome. Methods: In our recent practice, 2 renal cell carcinomas were suspected to be translocation tumours based on morphology and immunohistochemical features (RCC+/CK7-/EMA-). Using immunohistochemistry we tested for expression of TFE3 and TFEB. Results: Both tumours were translocation RCCs. The first case was a 74 year old lady who presented with right upper quadrant pain and had a 9cm right renal mass with no metastatic disease on CT imaging. Radical nephrectomy was performed and histology revealed a pT3aN2, Fuhrman grade 4 renal cell carcinoma with papillary architecture and eosinophillic hyaline nodules within many of the papillae. Staining for TFE3 showed focal nuclear positivity consistent with an Xp11 translocation RCC. She remains disease free 6 months post surgery. The second case was a 46 year old man with an incidental finding of a right renal mass on ultrasound abdomen performed after a new diagnosis of haemochromatosis. Staging CT imaging revealed no metastatic disease and he underwent laparoscopic nephrectomy. Histology revealed a pT1aNx, Fuhrman grade 3 renal cell carcinoma with predominantly alveolar architecture and focal papillary and microcystic areas. Staining for TFEB was positive consistent with a t6:11 translocation RCC. He remains disease free 5 months post surgery. Conclusions: We report 2 new cases of this rare subset of RCC. The therapeutic implications for patients with these mutations are as yet unclear. We plan to update with ongoing follow-up and identification of new cases to determine the clinical behaviour of these rare cancers in the Irish setting.

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11

Ellati, Riyad T., Ibrahim Abukhiran, Kholoud Alqasem, Judy Jasser, Juakub Khzouz, Tamer Bisharat, Ibrahim Al-saidi, and Ali Al-Daghmin. "Clinicopathologic Features of Translocation Renal Cell Carcinoma." Clinical Genitourinary Cancer 15, no. 1 (February 2017): 112–16. http://dx.doi.org/10.1016/j.clgc.2016.05.013.

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12

Malouf, Gabriel G., Federico A. Monzon, Jérôme Couturier, Vincent Molinié, Bernard Escudier, Philippe Camparo, Xiaoping Su, et al. "Genomic Heterogeneity of Translocation Renal Cell Carcinoma." Clinical Cancer Research 19, no. 17 (July 1, 2013): 4673–84. http://dx.doi.org/10.1158/1078-0432.ccr-12-3825.

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13

Torous, Vanda Farahmand, Albert Su, David Y. Lu, and Sarah M. Dry. "Adult Patient with Synchronous Gastrointestinal Stromal Tumor and Xp11 Translocation-Associated Renal Cell Carcinoma: A Unique Case Presentation with Discussion and Review of Literature." Case Reports in Urology 2015 (2015): 1–6. http://dx.doi.org/10.1155/2015/814809.

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Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal tumor of the gastrointestinal tract. This entity comprises a wide spectrum of tumors that vary from benign to overtly malignant, with the majority of these tumors harboring oncogenic mutations of the KIT receptor tyrosine kinase that can aid in diagnosis as well as in targeted therapy. Although the majority of GISTs are sporadic, there are forms that are associated with a variety of syndromes including Carney-Stratakis syndrome and neurofibromatosis type 1, as well as a subset of familial GIST syndromes that are caused by germline mutations in KIT or PDGFRA. Here, we describe an unusual case of a patient who was found to have a large abdominal GIST with an incidentally found Xp11 translocation-associated renal carcinoma. The karyotype of the renal carcinoma revealed an unbalanced rearrangement involving an (X;22) translocation at Xp11.2 and 22p11.2, which has not been reported in the literature. Although GISTs have shown an association with other primary malignant neoplasms, including simultaneous presence with unilateral clear cell renal cell carcinoma and bilateral papillary renal cell carcinomas, we describe the first reported case of synchronous GIST and Xp11 translocation-associated renal cell carcinoma.

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14

Martin, Elizabeth E., Rohit Mehra, Colleen Jackson-Cook, and Steven Christopher Smith. "Renal Cell Carcinoma With TFEB Translocation Versus Unclassified Renal Cell Carcinoma With TFEB Amplification." AJSP: Reviews and Reports 22, no. 6 (November 2017): 305–12. http://dx.doi.org/10.1097/pcr.0000000000000214.

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15

Zhao, Jianping, and Eduardo Eyzaguirre. "Clear Cell Papillary Renal Cell Carcinoma." Archives of Pathology & Laboratory Medicine 143, no. 9 (January 23, 2019): 1154–58. http://dx.doi.org/10.5858/arpa.2018-0121-rs.

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Clear cell papillary renal cell carcinoma (ccpRCC) is a recently recognized entity and represents the fourth most common variant of renal cell carcinoma (RCC). It has unique morphologic and immunohistochemical features and demonstrates an indolent clinical behavior. Microscopically, it may mimic other RCCs with clear cell features, such as clear cell RCC, translocation RCC, and papillary RCC with clear cell changes. A high index of suspicion is required to keep ccpRCC in the differential diagnosis of RCCs with features of clear cell and/or papillary architecture. In equivocal cases, immunohistochemistry is generally sufficient to substantiate the diagnosis of ccpRCC. In this review, we discuss the clinical, gross, and histopathologic features, immunohistochemical and genetic profiling, and prognosis of ccpRCC.

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16

Cutruzzula, Paulette, David Cahn, Dana Kivlin, Carmen Tong, Daniel Edwards, and Melanie Amster. "A Review of Translocation T(6;11) Renal Cell Carcinoma Tumors in the Adult Patient." Current Urology 10, no. 2 (2016): 69–71. http://dx.doi.org/10.1159/000447154.

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Historically, T(6;11) renal cell carcinoma (RCC) has been associated with the pediatric and adolescent populations and documentation of this tumor in adults has been rare. However, the frequency of translocation renal cell carcinoma (TRCC) may be widely underestimated in the adult population due to an inadequate immunohistochemical workup or misdiagnosis from similar gross and histological findings to other RCC. A subset of MiT family translocation carcinomas, t(6:11) (p21;q12) translocation tumors cause an alpha-TFEB gene fusion. Morphologically, this neoplasm tends to mimic the various types of RCC's, including clear cell, papillary, and even epitheloid angiomyolipomas. Adult cases of TRCC have shown to behave more aggressively than their indolent pediatric counterpart, but due to the limited number of reported cases the true nature of these tumors has yet to be determined. The aim of this review is to bring an awareness of translocation RCC to better understand its diagnoses, treatment and prognosis, and, in turn, to allow for new cases to further highlight the behavior of this rare variant.

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17

Al-Daghmin, Ali, Sohaib Alhamss, Khloud Al-qasem, Hani Al-najjar, Khaled Al-smadi, Aseel Olaimat, and Layana Al-halbouni. "Patterns of management of translocation renal cell carcinoma." Türk Üroloji Dergisi/Turkish Journal of Urology 44, no. 6 (October 8, 2018): 467–72. http://dx.doi.org/10.5152/tud.2018.40460.

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18

Lim, Bumjin, Dalsan You, In Gab Jeong, Taekmin Kwon, Sungwoo Hong, Cheryn Song, Yong Mee Cho, et al. "Clinicopathological features of Xp11.2 translocation renal cell carcinoma." Korean Journal of Urology 56, no. 3 (2015): 212. http://dx.doi.org/10.4111/kju.2015.56.3.212.

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19

Sureka, Binit, Kalpana Bansal, and Ankur Arora. "Imaging hallmark of Xp11.2 translocation renal cell carcinoma." Canadian Urological Association Journal 9, no. 7-8 (August 10, 2015): 572. http://dx.doi.org/10.5489/cuaj.2817.

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20

Sano, Yuho, Ryuta Tanimoto, Katsumi Sasaki, Satoko Nakamura, Koichi Mizobuchi, and Naoto Kuroda. "6p21 translocation renal cell carcinoma: A case report." Urology Case Reports 34 (January 2021): 101470. http://dx.doi.org/10.1016/j.eucr.2020.101470.

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21

Taşkınlar, Hakan, Dinçer Avlan, Çağlar Çıtak, Ayşe Polat, and Ali Naycı. "A rare cause of childhood renal cysts: Xp11.2 translocation renal cell carcinoma." Canadian Urological Association Journal 9, no. 1-2 (January 12, 2015): 36. http://dx.doi.org/10.5489/cuaj.2321.

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Pediatric renal cysts are rare, usually asymptomatic and incidentally detected in children. Cyst associated renal cell carcinoma (RCC) or cystic RCC is extremely rare in children. Bosniak classification system has been accepted for the management of cystic renal masses. Xp11.2 translocation RCC is a recently classified distinct subtype and usually affects children and adolescents. We report the case of a 10-year-old girl with Xp11.2 translocation RCC from a cyst of the right kidney.

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22

Chan, Susanne M., Christopher G. Sherman, Manal Y. Gabril, Ingrid J. Zbieranowski, Linda M. Sugar, George M. Yousef, and Georg A. Bjarnason. "Xp11.2 translocations in adult renal cell carcinomas with clear cell and papillary features." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): 4613. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.4613.

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4613 Background: Xp11.2 translocation renal cell carcinoma (RCC) is a rare tumor with unpredictable clinical course and prognosis in adults. Recognition of these tumors depends on the identification of a RCC with unique histology, particularly clear cell and papillary (CCP) features. Our objectives were to determine the incidence of Xp11.2 translocations in adult RCCs with clear cell and papillary features, and to characterize the clinicopathological features and prognosis of adult Xp11.2 RCCs. Methods: Slides for 1047 RCCs in adults (1999-2009) were retrieved from multiple institutions. Cases were reviewed histologically in order to detect any degree of clear cell and papillary change. Tissue microarrays were constructed from the clear cell and papillary RCCs as well as 40 non-papillary clear cell, 5 papillary, 3 chromophobe and 2 unclassified RCCs. Immunohistochemistry using TFE3, a marker highly sensitive (97.5%) and specific (99.6%) for Xp11.2 translocations was performed. Four pathologists independently reviewed the TFE3 results. Clinical and pathologic data were also retrieved. Results: Out of 1047 RCCs, 140 (13%) exhibited clear cell and papillary features. Four out of these 140 (3%) were positive for TFE3. All of the non-papillary clear cell, papillary, chromophobe and unclassified RCCs were negative for TFE3. Mean follow up for TFE3+ RCCs was 55 months. Conclusions: Xp11.2 translocation RCCs diagnosed by TFE3 immunohistochemistry were identified in 3% of adult RCCs that had clear cell and papillary changes. These tumors appear to present with smaller tumour size, lower stage and better prognosis in comparison to non-Xp11.2 CCPRCC and clear cell RCCs. In addition to Xp11.2 translocation carcinoma, coexistence of clear cell and papillary features may be present in other subsets of tumors that have yet to be characterized. [Table: see text]

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23

Power, Derek Gerard, Jodie E. Battley, Aoife McCarthy, Claire Brady, John P. Sweeney, Stewart Fleming, Nicholas J. Mayer, and Richard Martin Bambury. "Translocation renal cell carcinomas: An evolving entity." Journal of Clinical Oncology 30, no. 15_suppl (May 20, 2012): e15078-e15078. http://dx.doi.org/10.1200/jco.2012.30.15_suppl.e15078.

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e15078 Background: Translocation renal cell carcinomas (tRCCs) are a novel, rare and distinct clinicopathological entity. The term refers to RCCs with overexpression of transcription factor E3 (TFE3) due to translocation involving the Xp11 locus or less commonly with overexpression of transcription factor EB (TFEB) due to a t(6:11) translocation. In children it is estimated that these tumours account for 40% of RCCs but in adults this proportion is estimated to be 1-4%. These neoplasms are only recently recognised and outcome data are premature. We report 2 cases of tRCC in an Irish regional cancer centre and describe clinicopathological characteristics and early outcome. Methods: : Approximately 70 new cases of RCC are referred to our centre annually. Recently, 2 renal cell carcinomas were suspected to be tRCCs on morphology and immunohistochemical(IHC) features (RCC+/CK7-/EMA-). Using IHC we tested for expression of TFE3 and TFEB. Results: : Both tumours were tRCCs. The first case was a 74 year old lady who presented with right upper quadrant pain and had a 9cm right renal mass with no metastatic disease on CT imaging. Radical nephrectomy was performed and histology revealed a pT3aN2, Fuhrman grade 4 RCC with mixed clear cell and papillary architecture. IHC for TFE3 showed focal nuclear positivity consistent with an Xp11 translocation RCC. She relapsed 9 months later with local recurrence, retroperitoneal adenopathy and lung metastases. She commenced sunitinib and response assessment is pending. The 2nd case was a 46 year old man with an incidental finding of a right renal mass on ultrasound abdomen. Staging CT revealed no metastatic disease and he underwent laparoscopic nephrectomy. Histology revealed a pT1aNx, Fuhrman grade 3 renal cell carcinoma with predominantly alveolar architecture and focal papillary and microcystic areas. IHC for TFEB was positive consistent with a t6:11 translocation RCC. He remains disease free 9 months post surgery. Conclusions: We report 2 new cases of this rare subset of RCC. The therapeutic implications for patients with these mutations are as yet unclear. We plan to update with ongoing follow-up and will also report 3 further cases suspected to be tRCCs based on morphology and IHC. Confirmatory TFE3/TFEB IHC is awaited.

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24

Parihar, Asmita, Satish K. Tickoo, Sunil Kumar, and Vinod Kumar Arora. "Xp11 Translocation Renal Cell Carcinoma Morphologically Mimicking Clear Cell–Papillary Renal Cell Carcinoma in an Adult Patient." International Journal of Surgical Pathology 23, no. 3 (December 17, 2014): 234–37. http://dx.doi.org/10.1177/1066896914562280.

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25

Jeong, Chang Wook, Jae So Cho, Moses Lee, Murim Choi, Cheryn Song, Sangchul Lee, Ja Hyeon Ku, Cheol Kwak, and Hyeon Hoe Kim. "Comprehensive genetic characterization of TFE3-positive renal cell carcinoma." Journal of Clinical Oncology 36, no. 6_suppl (February 20, 2018): 635. http://dx.doi.org/10.1200/jco.2018.36.6_suppl.635.

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635 Background: MiT family translocation renal cell carcinoma (RCC) is very rare variant which has translocation of Xp11.2/TFE3 gene or t(6;11)/TFEB gene. Xp11.2 translocation RCC is predominantly reported in younger age and has aggressive features. However, its pathophysiology or genetic characteristics are rarely understood. The aim of the study is to describe the comprehensive genetic characteristics of TFE3-positive RCC diagnosed by immunohistochemistry. Methods: We identified patients who were clinically diagnosed as Xp11.2 translocation RCC by immunostaining positive of TFE3 from two tertiary referral hospitals. Among them, a total of 19 patients whose fresh frozen tissue and normal DNA were achieved were included in the analysis. Whole exome sequencing (WES) was performed to evaluate somatic mutations and copy-number variation (CNV). We also performed RNAseq on the TFE3-positive RCC, 7 clear cell RCC, and 4 normal kidney tissue for comparison. Fusion partners were identified and clustering analysis was done by RNAseq. Results: Mutational landscape of TFE3-positive RCC is unique by low somatic mutation rate and very rare COSMIC variants. High prevalence of CNV with loss of 3p, 6q, 9, gain of 5, 7, and 12 were most frequent. We identified NONO, RBM10, SFPQ, ASPSCR1 and PRCC as fusion partner as previously described. We could not find TFE3 fusion in 6 out of 19 patients by RNAseq, and they were older and had more mutations than the others. They were also genetically clustered with clear cell RCC. Oxidative reducatase pathway was upregulated and immune response and cell adhesion were downregulated by gene ontology results from heatmap clusters. These may promote metastasis, resistant to immunity and cell survival in poorer condition which could be potential mechanism of Xp11.2 translocation RCC aggressiveness. Conclusions: TFE3-positive RCC showed distinctive mutation pattern with low somatic mutation and rare common driver gene. One-third clinically diagnosed Xp11.2 translocation RCC (6/19) did not have real gene fusion even in TFE3 overexpression. They were older and had more somatic mutations than the others. Furthermore, they were clustered with clear cell RCC.

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26

Dey, Biswajit, Bhawana Badhe, Krishna Kumar Govindarajan, and Ranjith Arumbakkam Ramesh. "Xp11.2 Translocation Renal Cell Carcinoma Diagnosed by Immunohistochemistry and Cytogenetics." Journal of Laboratory Physicians 8, no. 02 (July 2016): 123–25. http://dx.doi.org/10.4103/0974-2727.180796.

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ABSTRACTXp11.2 translocation renal cell carcinomas (TRCCs) are a group of neoplasms with distinct clinical, histopathological appearance, immunohistochemical, and cytogenetic profile. We report a case of Xp11.2 translocation TRCC in an 11-year-old male diagnosed based on immunohistochemistry and fluorescence in situ hybridization.

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27

Petrinec, Benjamin, Bryan Morales Vargas, Lara R. Harik, and Viraj A. Master. "Renal Cancer Without Primary Cancer in the Kidney: Extra-Renal TFE3 Translocation Associated Renal Cell Carcinoma." Kidney Cancer 5, no. 2 (June 16, 2021): 107–12. http://dx.doi.org/10.3233/kca-200102.

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We report a case of an isolated para-aortic retroperitoneal renal cell carcinoma (RCC) in the absence of a primary cancer in the kidney. Single case reports in the literature have described extra-renal RCC in different locations with no evidence of primary renal tumor. We present the initial presentation, diagnostic imaging, surgical treatment, and pathologic evaluation. Immunohistochemistry demonstrated positivity for TFE3 and TFEB, both of which are Microphthalmia associated transcription factors (MiT) associated with translocation RCCs. We hypothesize these few cases of extra-renal RCC represent rare forms of translocation RCC.

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28

Williamson, Sean R., Leonardo Cardili, Lisa J. Whiteley, Jessica Sanchez, and Olena Kis. "Sclerosing TSC1 mutated renal cell carcinoma: An unusual pattern mimicking MITF family translocation renal cell carcinoma." Genes, Chromosomes and Cancer 59, no. 10 (June 13, 2020): 591–94. http://dx.doi.org/10.1002/gcc.22860.

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29

Chen, J., G. Sun, J. Liang, X. Yin, X. Zhang, Y. Chen, J. Yao, P. Shen, N. Chen, and H. Zeng. "Comprehensive molecular characterization of TFE3-translocation renal cell carcinoma." European Urology 79 (June 2021): S750. http://dx.doi.org/10.1016/s0302-2838(21)00929-5.

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30

Fok, Cynthia S., Maria M. Picken, Paul N. Meyer, Joseph I. Clark, Robert C. Flanigan, and Marcus L. Quek. "1308: XP11.2 Translocation Renal Cell Carcinoma in Adult Patients." Journal of Urology 177, no. 4S (April 2007): 430. http://dx.doi.org/10.1016/s0022-5347(18)31522-2.

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31

Zhong, Minghao, Paul Weisman, Bing Zhu, Maria Brassesco, Youfeng Yang, W. Marston Linehan, Maria J. Merino, et al. "Xp11.2 Translocation Renal Cell Carcinoma With PSF-TFE3 Rearrangement." Diagnostic Molecular Pathology 22, no. 2 (June 2013): 107–11. http://dx.doi.org/10.1097/pdm.0b013e318278962e.

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32

He, Huiying, Grace X. Zhou, Ming Zhou, and Longwen Chen. "The Distinction of Clear Cell Carcinoma of the Female Genital Tract, Clear Cell Renal Cell Carcinoma, and Translocation-Associated Renal Cell Carcinoma." International Journal of Gynecological Pathology 30, no. 5 (September 2011): 425–30. http://dx.doi.org/10.1097/pgp.0b013e318214dd4f.

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33

Owari, Takuya, Takamitsu Sasaki, Kiyomu Fujii, Rina Fujiwara-Tani, Shingo Kishi, Shiori Mori, Takuya Mori, et al. "Role of Nuclear Claudin-4 in Renal Cell Carcinoma." International Journal of Molecular Sciences 21, no. 21 (November 6, 2020): 8340. http://dx.doi.org/10.3390/ijms21218340.

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Claudin-4 (CLDN4) is a tight junction protein to maintain the cancer microenvironment. We recently reported the role of the CLDN4 not forming tight junction in the induction of epithelial-mesenchymal transition (EMT). Herein, we investigated the role of CLDN4 in renal cell carcinoma (RCC), focusing on CLDN4. CLDN4 expression in 202 RCCs was examined by immunostaining. CLDN4 phosphorylation and subcellular localization were examined using high metastatic human RCC SN12L1 and low metastatic SN12C cell lines. In 202 RCC cases, the CLDN4 expression decreased in the cell membrane and had no correlation with clinicopathological factors. However, CLDN4 was localized in the nucleus in 5 cases (2%), all of which were pT3. Contrastingly, only 6 of 198 nuclear CLDN4-negative cases were pT3. CLDN4 was found in the nuclear fraction of a highly metastatic human RCC cell line, SN12L1, but not in the low metastatic SN12C cells. In SN12L1 cells, phosphorylation of tyrosine and serine residues was observed in cytoplasmic CLDN4, but not in membranous CLDN4. In contrast, phosphorylation of serine residues was observed in nuclear CLDN4. In SN12L1 cells, CLDN4 tyrosine phosphorylation by EphA2/Ephrin A1 resulted in the release of CLDN4 from tight junction and cytoplasmic translocation. Furthermore, protein kinase C (PKC)-ε phosphorylated the CLDN4 serine residue, resulting in nuclear import. Contrarily, in SN12C cells that showed decreased expression of EphA2/Ephrin A1 and PKCε, the activation of EphA2/EphrinA1 and PKCε induced cytoplasmic and nuclear translocation of CLDN4, respectively. Furthermore, the nuclear translocation of CLDN4 promoted the nuclear translocation of Yes-associated protein (YAP) bound to CLDN4, which induced the EMT phenotype. These findings suggest that the release of CLDN4 by impaired tight junction might be a mechanism underlying the malignant properties of RCC. These findings suggest that the release of CLDN4 by impaired tight junction might be one of the mechanisms of malignant properties of RCC.

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34

Webster, Bradley R., Nikhil Gopal, and Mark W. Ball. "Tumorigenesis Mechanisms Found in Hereditary Renal Cell Carcinoma: A Review." Genes 13, no. 11 (November 15, 2022): 2122. http://dx.doi.org/10.3390/genes13112122.

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Renal cell carcinoma is a heterogenous cancer composed of an increasing number of unique subtypes each with their own cellular and tumor behavior. The study of hereditary renal cell carcinoma, which composes just 5% of all types of tumor cases, has allowed for the elucidation of subtype-specific tumorigenesis mechanisms that can also be applied to their sporadic counterparts. This review will focus on the major forms of hereditary renal cell carcinoma and the genetic alterations contributing to their tumorigenesis, including von Hippel Lindau syndrome, Hereditary Papillary Renal Cell Carcinoma, Succinate Dehydrogenase-Deficient Renal Cell Carcinoma, Hereditary Leiomyomatosis and Renal Cell Carcinoma, BRCA Associated Protein 1 Tumor Predisposition Syndrome, Tuberous Sclerosis, Birt–Hogg–Dubé Syndrome and Translocation RCC. The mechanisms for tumorigenesis described in this review are beginning to be exploited via the utilization of novel targets to treat renal cell carcinoma in a subtype-specific fashion.

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Pei, Jianming, Harry Cooper, Douglas B. Flieder, Jacqueline N. Talarchek, Tahseen Al-Saleem, Robert G. Uzzo, Essel Dulaimi, Arthur S. Patchefsky, Joseph R. Testa, and Shuanzeng Wei. "NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma." Modern Pathology 32, no. 5 (January 8, 2019): 710–16. http://dx.doi.org/10.1038/s41379-018-0191-7.

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Gemmill, Robert M., James D. West, Ferenc Boldog, Naotake Tanaka, Linda J. Robinson, David I. Smith, Frederick Li, and Harry A. Drabkin. "The hereditary renal cell carcinoma 3;8 translocation fuses FHIT to a patched-related gene, TRC8." Proceedings of the National Academy of Sciences 95, no. 16 (August 4, 1998): 9572–77. http://dx.doi.org/10.1073/pnas.95.16.9572.

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The 3;8 chromosomal translocation, t(3;8)(p14.2;q24.1), was described in a family with classical features of hereditary renal cell carcinoma. Previous studies demonstrated that the 3p14.2 breakpoint interrupts the fragile histidine triad gene (FHIT) in its 5′ noncoding region. However, evidence that FHIT is causally related to renal or other malignancies is controversial. We now show that the 8q24.1 breakpoint region encodes a 664-aa multiple membrane spanning protein, TRC8, with similarity to the hereditary basal cell carcinoma/segment polarity gene, patched. This similarity involves two regions of patched, the putative sterol-sensing domain and the second extracellular loop that participates in the binding of sonic hedgehog. In the 3;8 translocation, TRC8 is fused to FHIT and is disrupted within the sterol-sensing domain. In contrast, the FHIT coding region is maintained and expressed. In a series of sporadic renal carcinomas, an acquired TRC8 mutation was identified. By analogy to patched, TRC8 might function as a signaling receptor and other pathway members, to be defined, are mutation candidates in malignant diseases involving the kidney and thyroid.

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Tan, Ayça, and Nalan Neşe. "MiT Family Translocation Renal Cell Carcinomas." Journal of Urological Surgery 3, no. 3 (September 23, 2016): 108–9. http://dx.doi.org/10.4274/jus.1131.

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38

Zhong, Minghao, Patricia De Angelo, Lisa Osborne, Alberto E. Paniz-Mondolfi, Matthew Geller, Youfeng Yang, W. Marston Linehan, Maria J. Merino, Carlos Cordon-Cardo, and Dongming Cai. "Translocation Renal Cell Carcinomas in Adults." American Journal of Surgical Pathology 36, no. 5 (May 2012): 654–62. http://dx.doi.org/10.1097/pas.0b013e31824f24a6.

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39

Carlo, Maria Isabel, Nabeela Khan, Yingbei Chen, James Hsieh, A. Ari Hakimi, Chung-Han Lee, Darren R. Feldman, Robert J. Motzer, and Martin Henner Voss. "The genomic landscape of metastatic non-clear cell renal cell carcinoma." Journal of Clinical Oncology 35, no. 6_suppl (February 20, 2017): 474. http://dx.doi.org/10.1200/jco.2017.35.6_suppl.474.

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474 Background: Non-clear cell renal cell carcinoma (nccRCC) encompasses about 20% of RCC cases and includes a number of subtypes that vary clinically and molecularly. Compared to ccRCC, these tumors have more limited sensitivity to conventional anti-VEGF agents and mTOR inhibitors, and there is clear need for better therapies. Analysis of genomic alterations in potentially targetable pathways may lead to novel therapeutic development strategies. Methods: We retrospectively analyzed tumors from 112 patients with metastatic nccRCC with targeted next-generation sequencing (NGS) across a panel of >340 cancer-relevant genes. Matched tumor and normal was used to facilitate somatic calling. We report on recurrent alterations observed for nccRCC variants. Results: Median age was 53 years (range 12-77), 67% were male; 47% presented with metastatic disease and 53% with localized disease that later metastasized. NGS was performed on tissue from primary tumors (57%) or metastatic sites (43%). Subtype classifications included unclassified (44%), papillary (21%), chromophobe (13%), translocation (12%), and other (9%). The most frequently altered genes by subtype are included in table. 36% of unclassified or papillary tumors had a mutation in a putative driver gene amenable to targeted therapies, including MET, NOTCH1, SMARCB1, TSC1, TSC2, PIK3CA, and FGFR3. 3 chromophobe tumors and 1 translocation tumor had a mutation in a potentially targetable pathway. Conclusions: The mutation profiles of metastatic nccRCC vary by papillary, chromophobe, and translocation subtype, with unclassified tumors most approximating papillary subtype. Unclassified and papillary subtypes harbor frequent mutations in potentially targetable pathways that merit further investigation. [Table: see text]

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Solano, Cristian, Shrinjaya Thapa, and Mohammad Muhsin Chisti. "Adult Xp11.2 translocation renal cell carcinoma managed effectively with pazopanib." BMJ Case Reports 14, no. 6 (June 2021): e243058. http://dx.doi.org/10.1136/bcr-2021-243058.

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Xp11.2 translocation renal cell carcinoma (TRCC) is a rare and aggressive variant of renal cell carcinoma (RCC) when presenting in adults. We report a case of a man in his early 40s who was diagnosed with stage III Xp11.2 TRCC and underwent radical nephrectomy. Seven months following the surgery, an adrenal nodule and bilateral pulmonary nodules were discovered. He underwent cryoablation of the adrenal nodule and systemic treatment with daily pazopanib. He displayed stable disease for approximately 6 years. Following this period, multiple hospitalisations interrupted daily pazopanib therapy resulting in progression of disease. His regimen was then changed to ipilimumab and nivolumab, followed by current daily therapy with axitinib. The patient now shows stable disease in his 10th year after diagnosis. This case study demonstrates the efficacy of pazopanib for metastatic Xp11.2 TRCC and warrants further investigation to supplement the guidelines regarding the use of targeted therapy for TRCC.

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Venyo, Anthony. "Anaplastic Lymphoma Kinase (ALK) Translocation Re-arrangement Renal Cell Carcinomas: A Review and Update of the Literature." International Journal of Clinical Case Reports and Reviews 3, no. 5 (December 25, 2020): 01–13. http://dx.doi.org/10.31579/2690-4861/055.

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Less than 50 cases of anaplastic lymphoma kinase (ALK) re-arrangement-associated renal cell carcinoma (ALK-RCC) been reported in the literature. ALK-RCC does affect children who have sickle cell trait and also adults with no evidence of sickle cell trait or sickle cell disease. ALK-RCC may be diagnosed incidentally or in individuals who have typical symptoms that simulate those or more common renal tumours.. Diagnosis of ALK-RCC does depend upon histopathology examination, immunohistochemistry studies as well as electron microscopy studies of nephrectomy / biopsy specimens of the kidney lesion that that show: typical pathology examination features of ALK-RCC as described within the text. Immunohistochemistry studies in ALK-RCC tend to show positive staining for: ALK, PAX8, INI1 (Intact), AE1/AE3, CAM5.2, CK7, EMA, LMWCK, P53, +Vimentin, CD10 (this tends to be variable), AMACR (this tends to be variable), and TFE3 (within the majority of the tumour cells). Majority of ALK-RCCs have been localized tumours at the time of initial diagnosis, but some cases of locally advanced tumours or tumours associated with metastases have been reported. There is no consensus opinion on the treatment of ALK-RCC but nephrectomy has been undertaken in most cases with good short term and medium term; nevertheless metastases and death have been reported. Response to utilization of to ALK inhibitor alectinib, as well as ALK Translocation Renal Cell Carcinoma does respond to Crizotinib. Improvements in the outcome of ALK-RCC could possibly be achieved through routine screening of sickle cell trait individuals, routine pre-operative per-cutaneous radiology imaging guided biopsies of all renal lesions, small localized tumours could be treated by (a) partial nephrectomy, or (b) radical nephrectomy, (c) cryotherapy, (d) radiofrequency ablation, (e ) irreversible electroporation plus / minus adjuvant therapy (radiotherapy, chemotherapy or ALK inhibitor plus or minus immunotherapy.

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Akhavein, Arash, Julia Han, Christopher Carter, Samer Z. Al-Quran, and Li-Ming Su. "Xp11 Translocation Renal Cell Carcinoma: Unusual Variant Masquerading as Upper Tract Urothelial Cell Carcinoma." Urology Case Reports 2, no. 3 (May 2014): 75–77. http://dx.doi.org/10.1016/j.eucr.2014.02.003.

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Yan, Benjamin C., A. Craig Mackinnon, and Hikmat A. Al-Ahmadie. "Recent Developments in the Pathology of Renal Tumors: Morphology and Molecular Characteristics of Select Entities." Archives of Pathology & Laboratory Medicine 133, no. 7 (July 1, 2009): 1026–32. http://dx.doi.org/10.5858/133.7.1026.

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Abstract Context.—Renal cell carcinoma is a heterogeneous group of tumors with distinct histopathologic features, molecular characteristics, and clinical outcome. These tumors can be sporadic as well as familial or associated with syndromes. The genetic abnormalities underlying these syndromes have been identified and were subsequently found in corresponding sporadic renal tumors. Objective.—To review the recent molecular and genetic advancements relating to sporadic and familial renal carcinomas as well as those related to Xp11.2 translocation– associated renal cell carcinoma and renal medullary carcinoma. Data Sources.—Literature review, personal experience, and material from the University of Chicago. Conclusions.—Molecular genetic diagnostic techniques will continue to introduce new biomarkers that will aid in the differential diagnosis of difficult cases. The identification of specific signaling pathways that are defective in certain renal tumors also makes possible the development of new therapies that selectively target the aberrant activity of the defective proteins.

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Ahluwalia, Puneet, Balagopal Nair, and Ginil Kumar. "Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusion: A Rare Case Report with Review of the Literature." Case Reports in Urology 2013 (2013): 1–4. http://dx.doi.org/10.1155/2013/810590.

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Introduction. The recently recognized renal cell carcinomas associated with Xp11.2 translocations are rare tumors predominantly reported in children. Chromosome Xp11.2 translocation results in gene fusion related to transcription factor E3 (TFE3) that plays an important role in proliferation and survival.Case Report. Herein, we present two cases of a TFE3 translocation-associated RCC in young female adults, one detected incidentally and the other one presenting with gross hematuria. Tumor is characterized by immunohistochemistry and a literature review with optimal treatment regimen is presented.Discussion. Xp11.2 translocation RCCs in adult patients are associated with advanced stages, large tumors, and extracapsular disease and usually have an aggressive clinical course.Conclusion. In TFE3 RCC, the genetic background may not only contribute to tumorigenesis, but also determine the response to chemotherapy and targeted therapy. Therefore it is necessary to diagnose this tumor entity accurately. Because of the small number ofTFE3gene fusion-related renal tumors described in the literature, the exact biologic behavior and impact of current treatment modalities remain to be uncertain.

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Aiyer, HemaMailini, and Prachi. "MiT family translocation renal cell carcinoma in an elderly male." Indian Journal of Pathology and Microbiology 64, no. 3 (2021): 553. http://dx.doi.org/10.4103/ijpm.ijpm_365_20.

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Bakouny, Ziad, Ananthan Sadagopan, Praful Ravi, Nebiyou Y. Metaferia, Jiao Li, Shatha AbuHammad, Stephen Tang, et al. "Integrative clinical and molecular characterization of translocation renal cell carcinoma." Cell Reports 38, no. 1 (January 2022): 110190. http://dx.doi.org/10.1016/j.celrep.2021.110190.

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Klaassen, Zachary, Alexander Tatem, Jason O. Burnette, Jeffrey M. Donohoe, and Martha K. Terris. "Adult Xp11 Translocation Associated Renal Cell Carcinoma: Time to Recognize." Urology 80, no. 5 (November 2012): 965–68. http://dx.doi.org/10.1016/j.urology.2012.07.051.

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Kurahashi, R., T. Kadomatsu, Y. Oike, and T. Kamba. "A novel urinary biomarker of Xp11.2 translocation renal cell carcinoma." European Urology Open Science 19 (July 2020): e553. http://dx.doi.org/10.1016/s2666-1683(20)32936-0.

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Gorin, Michael A., Mark W. Ball, Phillip M. Pierorazio, Pedram Argani, and Mohamad E. Allaf. "Partial Nephrectomy for the Treatment of Translocation Renal Cell Carcinoma." Clinical Genitourinary Cancer 13, no. 3 (June 2015): e199-e201. http://dx.doi.org/10.1016/j.clgc.2014.12.008.

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Smirnova, E. A., S. D. Bezhanova, N. A. Kozlov, I. A. Bukaeva, N. T. Raikhlin, A. M. Stroganova, and A. I. Senderovich. "Renal cell carcinoma associated with Xp11 translocation involving the gene." Arkhiv patologii 80, no. 1 (2018): 58. http://dx.doi.org/10.17116/patol201880158-62.

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