Articles de revues : « Shwachman-Diamond »

1

Tan, Huihan, Dequan Su et Zhiqiang Zhuo. « Shwachman-diamond syndrome ». Medicine 100, n^o 7 (19 février 2021) : e24712. http://dx.doi.org/10.1097/md.0000000000024712.

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Sabirova, D. R., A. R. Shakirova, I. I. Ramazanova et N. V. Shakurova. « Shwachman–Diamond Syndrome ». Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 66, n^o 5 (9 décembre 2021) : 223–26. http://dx.doi.org/10.21508/1027-4065-2021-66-5-223-226.

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This article describes a clinical case of a rare Schwachman–Diamond syndrome. It covers the features of the clinical picture of the disease and the laboratory examinations. A multidisciplinary approach for the purpose of early diagnosis, timely initiation of complex treatment, including nutritional therapy, prescription of enzyme preparations and granulocyte colony-stimulating factor, makes it possible to improve the quality of life and prognosis in such patients.

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Shimamura, Akiko. « Shwachman-Diamond Syndrome ». Seminars in Hematology 43, n^o 3 (juillet 2006) : 178–88. http://dx.doi.org/10.1053/j.seminhematol.2006.04.006.

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Dror, Yigal, et Melvin H. Freedman. « Shwachman-Diamond Syndrome ». British Journal of Haematology 118, n^o 3 (15 août 2002) : 701–13. http://dx.doi.org/10.1046/j.1365-2141.2002.03585.x.

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Mack, David R. « Shwachman-Diamond syndrome ». Journal of Pediatrics 141, n^o 2 (août 2002) : 164–65. http://dx.doi.org/10.1067/mpd.2002.126918.

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Smith, O. P. « Shwachman-Diamond syndrome ». Seminars in Hematology 39, n^o 2 (avril 2002) : 95–102. http://dx.doi.org/10.1053/shem.2002.31915.

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Abraham-Inpijn, Luzi. « SHWACHMAN-DIAMOND SYNDROOM ». Tandartspraktijk 33, n^o 6 (juin 2012) : 58–61. http://dx.doi.org/10.1007/s12496-012-0085-7.

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Dall’Oca, C., M. Bondi, M. Merlini, M. Cipolli, F. Lavini et P. Bartolozzi. « Shwachman–Diamond syndrome ». MUSCULOSKELETAL SURGERY 96, n^o 2 (27 décembre 2011) : 81–88. http://dx.doi.org/10.1007/s12306-011-0174-z.

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Andolina, Jeffrey R., Colleen B. Morrison, Alexis A. Thompson, Sonali Chaudhury, A. Kyle Mack, Maria Proytcheva et Seth J. Corey. « Shwachman-Diamond Syndrome ». Journal of Pediatric Hematology/Oncology 35, n^o 6 (août 2013) : 486–89. http://dx.doi.org/10.1097/mph.0b013e3182667c13.

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Maslak, P. « Shwachman-Diamond Syndrome ». ASH Image Bank 2005, n^o 0314 (14 mars 2005) : 101320. http://dx.doi.org/10.1182/ashimagebank-2005-101320.

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Dror, Yigal. « Shwachman-Diamond syndrome ». Pediatric Blood & ; Cancer 45, n^o 7 (2005) : 892–901. http://dx.doi.org/10.1002/pbc.20478.

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Macipe Costa, R. M. ª., E. Javierre Miranda, M. ªG Lou Francés, S. Heredia González et M. ªT Calvo Martín. « Síndrome de Shwachman-Diamond ». Anales de Pediatría 65, n^o 1 (juillet 2006) : 79–82. http://dx.doi.org/10.1157/13090901.

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Myers, Kasiani C., Audrey Anna Bolyard, Jamie Leung, Joan Moore, Sara Loveless, Leann Mount, Richard E. Harris et al. « The North American Shwachman-Diamond Syndrome Registry : Genetically Undefined Shwachman-Diamond Syndrome ». Blood 126, n^o 23 (3 décembre 2015) : 3614. http://dx.doi.org/10.1182/blood.v126.23.3614.3614.

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Abstract Shwachman-Diamond syndrome (SDS) is an inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and an increased risk of myelodysplasia and leukemia. The majority of individuals with SDS carry biallelic SBDS gene mutations, however a subset of patients remain genetically undefined. The objective of this study was to compare the clinical characteristics of patients with and without SBDS mutations. To address these questions, we conducted a retrospective study of patients enrolled on the North American Shwachman-Diamond Syndrome Registry (SDSR). Clinical data from the SDSR were available for 55 individuals with biallelic SBDS mutations and 16 individuals who fulfilled clinical diagnostic criteria for SDS but lacked biallelic mutations in the SBDS gene. Study subject ages for SBDS mutation positive and negative cohorts span 2-52.4 and 2.8-21.4 years with median ages of 12.4 and 10.9 years respectively. Cytopenias were present for both SBDS mutation positive and negative cohorts, with neutropenia the most common event in 94% and 81% respectively. Bone marrow hypocellularity was reported in 91% of those with SBDS mutations and 69% of those without. Marrow dysplasia was reported in 65% of those with SBDS mutations and none of those without. Clonal abnormalities were present in 44% and 25% of those with and without SBDS mutations with median age of initial appearance at 9 years (0.8-45.1) and 7 years (1.2-14) respectively. Abnormalities included del7q and del20q in both groups as well as iso7q, trisomy 8 and others in the SBDS mutation positive group. Clonal abnormalities were all transient in the SBDS mutation negative cohort. One SBDS mutation positive individual developed AML. None of the SBDS mutation negative individuals developed malignancy or progressed to require HSCT thus far. Pancreatic dysfunction determined by low serum trypsinogen or pancreatic isoamylase was similar in both cohorts 79% vs 80%. However, only 27% (15/55) of SBDS mutation positive individuals reported requiring enzyme therapy with 33% (18/55) documenting failure to thrive, in contrast to 75% (12/16) of SBDS mutation negative individuals with 73% (11/15) having failure to thrive. A broad spectrum of congenital anomalies were reported in 55% and 56% of SBDS mutation positive and negative individuals respectively, with skeletal anomalies being the most common in both groups. Medical comorbidities commonly reported in both groups included eczema and endocrinopathies. Elevated liver transaminases were seen in 27% of SBDS mutation positive individuals but this was not seen in the SBDS mutation negative cohort. Conclusion: Patients with genetically undefined (SBDS mutation negative) SDS share clinical characteristics with SBDS mutation positive patients; however, the risk of leukemia in the genetically undefined patients remains unclear due to low patient numbers with short follow-up. Further studies of this young cohort are required to inform medical management and to advance our understanding of genetic etiology, mechanism, disease pathophysiology and treatment of these marrow failure disorders. Disclosures Dale: Amgen: Consultancy, Honoraria, Research Funding, Speakers Bureau.

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Cipolli, Marco. « Shwachman-Diamond Syndrome : Clinical Phenotypes ». Pancreatology 1, n^o 5 (janvier 2001) : 543–48. http://dx.doi.org/10.1159/000055858.

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Newburger, Peter E. « Shwachman-Diamond in the rough ». Blood 106, n^o 4 (15 août 2005) : 1140–41. http://dx.doi.org/10.1182/blood-2005-05-2075.

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Hall, G. W. « Shwachman-Diamond syndrome : UK perspective ». Archives of Disease in Childhood 91, n^o 6 (1 juin 2006) : 521–24. http://dx.doi.org/10.1136/adc.2003.046151.

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Jha, Ajaya Kumar, Deepak Bansal, Sheetal Sharda, Peter Ray, Leslie Steele, Neelam Varma, Akshay K. Saxena et Ram Kumar Marwaha. « Shwachman-Diamond syndrome in India ». Pediatric Blood & ; Cancer 58, n^o 3 (11 octobre 2011) : 479–80. http://dx.doi.org/10.1002/pbc.23332.

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Minelli, Antonella, Elena Nicolis, Zemira Cannioto, Daniela Longoni, Sandra Perobelli, Francesco Pasquali, Laura Sainati, Furio Poli, Marco Cipolli et Cesare Danesino. « Incidence of Shwachman-Diamond syndrome ». Pediatric Blood & ; Cancer 59, n^o 7 (8 août 2012) : 1334–35. http://dx.doi.org/10.1002/pbc.24260.

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Erdős, Melinda, et László Maródi. « Shwachman–Diamond syndrome : Clinical manifestations and molecular genetics ». Orvosi Hetilap 148, n^o 11 (1 mars 2007) : 513–19. http://dx.doi.org/10.1556/oh.2007.27922.

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A Shwachman–Diamond-szindróma ritka, autoszomális recesszív öröklődésmenetű primer immunhiánybetegség, amelyre exocrin pancreaselégtelenség, metaphysealis dysostosis, növekedési retardáció, csontvelő-diszfunkció és visszatérő fertőzések jellemzők. A közleményben a szerzők ismertetik a betegség klinikumát, laboratóriumi eltéréseit, összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket és kezelésének lehetőségeit. Bemutatják egy Magyarországon elsőként diagnosztizált Shwachman–Diamond-szindrómában szenvedő gyermek kórtörténetét, akinek alapbetegségét genetikai vizsgálattal igazolták. A klinikai képet congenitalis neutropenia, az exocrin pancreaselégtelenség következtében kialakuló súlyos malabsorptiós szindróma és visszatérő, gennyes bőr-, illetve alsó- és felső légúti fertőzések jellemezték. A Shwachman–Diamond-szindróma génjén két új, az irodalomban korábban még nem leírt mutációt (c.362A > C, p.N121T és c.523C > T, p.R175W) találtak. A beteg gyermek születendő testvérében praenatalis genetikai vizsgálatot végeztek, amely hordozó állapotot igazolt. Ennek alapján az anya dönthetett a terhesség kihordásáról.

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Kopel, Liliane, Paulo S. Gutierrez et Silvia G. Lage. « Dilated cardiomyopathy in a case of Shwachman–Diamond syndrome ». Cardiology in the Young 21, n^o 5 (13 avril 2011) : 588–90. http://dx.doi.org/10.1017/s1047951111000308.

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AbstractThe Shwachman–Diamond syndrome is an autosomal recessive bone marrow failure syndrome with exocrine pancreatic insufficiency. Additional organ systems, such as the liver, heart and bone, may also be affected. We report a patient with a long history of cardiac failure and diagnosis of dilated cardiomyopathy with intermittent neutropenia. Periodic follow-up revealed progressive cardiac failure and pulmonary hypertension. A diagnosis of Shwachman–Diamond syndrome was made at the autopsy.

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Kaabar, Mohamed, Pierre Lemaire, Vincent Cussac, Anne Besancon, Dominique Martin-Coignard, Odile Fenneteau, Kamel Laribi et Fabienne Pineau-Vincent. « Shwachman-Diamond syndrome : a case report ». Annales de biologie clinique 76, n^o 4 (juillet 2018) : 435–38. http://dx.doi.org/10.1684/abc.2018.1358.

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Pressato, Barbara, Roberto Valli, Cristina Marletta, Lydia Mare, Giuseppe Montalbano, Francesco Lo Curto, Francesco Pasquali et Emanuela Maserati. « Cytogenetic Monitoring in Shwachman-Diamond Syndrome ». Journal of Pediatric Hematology/Oncology 37, n^o 4 (mai 2015) : 307–10. http://dx.doi.org/10.1097/mph.0000000000000268.

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Wilschanski, Michael, Ellen van der Hoeven, Jim Phillips, Bruce Shuckett et Peter Durie. « Shwachman-Diamond Syndrome Presenting as Hepatosplenomegaly ». Journal of Pediatric Gastroenterology and Nutrition 19, n^o 1 (juillet 1994) : 111–13. http://dx.doi.org/10.1097/00005176-199407000-00019.

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Smith, Owen P., Ian M. Hann, Judith M. Chessells, Brian R. Reeves et Peter Milla. « Haematological abnormalities in Shwachman-Diamond syndrome ». British Journal of Haematology 94, n^o 2 (août 1996) : 279–84. http://dx.doi.org/10.1046/j.1365-2141.1996.d01-1788.x.

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Albrecht, Lindsey A., Sandra W. Gorges, Dennis M. Styne et Andrew A. Bremer. « Shwachman-Diamond Syndrome Presenting as Hypoglycemia ». Clinical Pediatrics 48, n^o 2 (2 octobre 2008) : 212–14. http://dx.doi.org/10.1177/0009922808323114.

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Costa, Elísio, et Rosário Santos. « Hematologically important mutations : Shwachman–Diamond syndrome ». Blood Cells, Molecules, and Diseases 40, n^o 2 (mars 2008) : 183–84. http://dx.doi.org/10.1016/j.bcmd.2007.07.008.

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Ruggiero, Antonio, Francesco Molinari, Paola Coccia, Giorgio Attinà, Palma Maurizi, Riccardo Riccardi et Lorenzo Bonomo. « MRI findings in Shwachman diamond syndrome ». Pediatric Blood & ; Cancer 50, n^o 2 (2007) : 352–54. http://dx.doi.org/10.1002/pbc.21109.

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Whitcomb, David C. « The genetics of Shwachman-Diamond syndrome ». Gastroenterology 125, n^o 5 (novembre 2003) : 1541–43. http://dx.doi.org/10.1016/j.gastro.2003.04.007.

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Sharma, Vagisha, Sheetal Ahuja et Amitabh Singh. « Shwachman Diamond Syndrome – A diagnostic challenege ». Pediatric Hematology Oncology Journal 7, n^o 4 (2022) : S44. http://dx.doi.org/10.1016/j.phoj.2022.10.137.

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Myers, Kasiani C., Audrey Anna Bolyard, Barbara Otto, Trisha E. Wong, Amanda T. Jones, Richard E. Harris, Stella M. Davies, David C. Dale et Akiko Shimamura. « Variable Clinical Presentation of Shwachman–Diamond Syndrome : Update from the North American Shwachman–Diamond Syndrome Registry ». Journal of Pediatrics 164, n^o 4 (avril 2014) : 866–70. http://dx.doi.org/10.1016/j.jpeds.2013.11.039.

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Myers, Kasiani C., Audrey Anna Bolyard, Barbara Otto, Nicholas Dobbins, Amanda Jones, Trisha E. Wong, Richard E. Harris, Stella M. Davies, David C. Dale et Akiko Shimamura. « Variable Clinical Presentation of Shwachman-Diamond Syndrome : Update From the North-American Shwachman-Diamond Syndrome Registry. » Blood 120, n^o 21 (16 novembre 2012) : 2367. http://dx.doi.org/10.1182/blood.v120.21.2367.2367.

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Abstract Abstract 2367 Background: Shwachman-Diamond syndrome (SDS) is an autosomal recessively inherited marrow failure syndrome associated with exocrine pancreatic dysfunction and an increased leukemia risk. SDS is caused by biallelic mutations in the SBDS gene. Timely diagnosis prior to the development of life-threatening complications is essential for optimal medical management and outcomes. SDS hematologic complications such as severe marrow failure or leukemia are treated with a hematopoietic stem cell transplant. SDS patients require reduced intensity conditioning regimens to avoid undue regimen-related toxicities, thus the recognition of the underlying diagnosis of SDS is critical. The common constellation of clinical characteristics reported for SDS includes neutropenia, steatorrhea, and failure to thrive. Hypothesis: With the advent of genetic testing, diagnosis is now possible for patients with non-classical presentations of the inherited marrow failure syndromes. The aim of this study was to investigate the range of clinical presentations for SDS with the long-term goal of improving diagnosis. Methods: This study was a retrospective review of medical records obtained by the North American Shwachman-Diamond Syndrome Registry (SDSR) which was founded in 2008. The SDS Registry works in partnership with the Severe Chronic Neutropenia International Registry. Results: Genetic reports of biallelic SBDS mutations confirming the diagnosis of SDS were available for 31 patients. This SDS study cohort included 19 male and 12 female patients. Median patient age was 10 years with a range of 2 – 49 years. Radiologic reports were available for 23 patients. Pancreatic lipomatosis was noted in 22/23 patients. One patient had an atrophic pancreas without lipomatosis on CT scan at age 6.9 years. Two patients initially had normal early pancreatic studies by CT or ultrasound at ages 1.3 years and 2.6 years, but subsequently were found to have pancreatic lipomatosis by the same imaging modalities later in life. Fecal elastase has not been previously evaluated as a screen for SDS. 14/17 patients (82%) had low fecal elastase levels while 3/17 patients had normal fecal elastase levels. Serum trypsinogen or pancreatic isoamylase were low in all 18 patients tested. 26/31 patients (84%) presented with failure to thrive. 17/31 (54%) patients presented with diarrhea or steatorrhea. 17/31 patients (55%) had congenital anomalies. Neutropenia was the most common hematologic abnormality at presentation (77%). Strikingly, 2 patients presented with isolated thrombocytopenia, 3 patients presented with severe anemia requiring transfusion support, and 5 patients presented without any cytopenias. One patient presented with the initial diagnosis of MDS with a del 20q clone. One patient presented with short stature and a sibling who died from AML. Interestingly, one patient had very short telomeres (<1st percentile for age) across 3 lymphocyte subsets as well as in total lymphocytes, a pattern typically associated with dyskeratosis congenita. Conclusion: Data from the North-American Shwachman Diamond Syndrome Registry reveals an unexpected range of clinical presentation for this rare disorder that expands beyond that which is currently classically recognized. The diagnosis of SDS should be considered even in the absence of neutropenia or diarrhea. In our cohort, clues to the underlying diagnosis of SDS included other cytopenias, congenital anomalies, family history, and the del20q clonal marrow abnormality. Reliance on classical clinical descriptions of SDS would miss or delay diagnosis of a significant subset of SDS patients. Disclosures: Dale: AMGEN: Consultancy.

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Myers, Kasiani C., Susan R. Rose, Meilan M. Rutter, Parinda A. Mehta, Jane C. Khoury, Theresa Cole et Richard E. Harris. « Endocrine Evaluation of Children with and without Shwachman-Bodian-Diamond Syndrome Gene Mutations and Shwachman-Diamond Syndrome ». Journal of Pediatrics 162, n^o 6 (juin 2013) : 1235–40. http://dx.doi.org/10.1016/j.jpeds.2012.11.062.

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Bezzerri, Valentino, Donatella Bardelli, Jacopo Morini, Antonio Vella, Simone Cesaro, Claudio Sorio, Andrea Biondi et al. « Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells ». American Journal of Hematology 93, n^o 4 (9 février 2018) : 527–36. http://dx.doi.org/10.1002/ajh.25025.

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Warren, Alan John. « Linking Defective Ribosome Maturation to Shwachman-Diamond Syndrome ». Blood 122, n^o 21 (15 novembre 2013) : SCI—36—SCI—36. http://dx.doi.org/10.1182/blood.v122.21.sci-36.sci-36.

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Abstract Ribosomes are RNA-protein machines that translate the genetic information encoded by the mRNA template in all living cells. Recent high-resolution structures of the ribosome have revolutionized our understanding of protein translation. However, the mechanisms of ribosome assembly and the surveillance mechanisms that monitor this process and couple it to growth are poorly understood. Causative mutations and deletions of genes involved in ribosome biogenesis define an emerging group of disorders known as the ribosomopathies. Recent work from my laboratory strongly supports the hypothesis that Shwachman-Diamond syndrome (SDS) is a ribosomopathy caused by defective maturation of the large ribosomal subunit. Elucidation of the specific function of the SBDS protein that is deficient in SDS is revealing unexpected new insights that extend our understanding of the mechanisms underlying the late cytoplasmic steps of ribosome assembly and the quality control surveillance pathways that monitor 60S maturation. Genetic dissection of this pathway may inform novel therapeutic strategies for SDS. 1. Wong C.C., Traynor D., Basse N., Kay R.R., Warren A.J. Defective ribosome assembly in Shwachman-Diamond syndrome. Plenary Paper, Blood. 2011 Oct 20;118(16):4305-12. 2. Finch A.J., Hilcenko C., Basse N., Drynan L.F., Goyenechea B., Menne T.F., González Fernández Á., Simpson P., D’Santos C.S., Arends M.J., Donadieu J., Bellanné-Chantelot C., Costanzo M., Boone C., McKenzie A.N., Freund S.M., Warren A.J. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes and Development (2011) 25: 917-929. 3. Menne T.M., Goyenechea B., Sánchez-Puig N., Wong C.C., Tonkin L.M., Ancliff P., Brost R.L., Costanzo M., Boone C. and Warren A.J. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nature Genetics (2007) 39: 486-95. Disclosures: No relevant conflicts of interest to declare.

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Shimamura, Akiko. « Inherited Bone Marrow Failure Syndromes : Molecular Features ». Hematology 2006, n^o 1 (1 janvier 2006) : 63–71. http://dx.doi.org/10.1182/asheducation-2006.1.63.

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Abstract Recent advances resulting from the identification of the genes responsible for four inherited marrow failure syndromes, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, are reviewed. The interpretation of genetic testing should be guided by an understanding of the limitations of such testing for each disorder. The possibility of an inherited basis for marrow failure must be considered for adults as well as children with aplastic anemia. Shared molecular themes are emerging from functional studies of the genes underlying the different inherited disorders. Genomic instability may result from impaired DNA repair in Fanconi anemia or telomere dysregulation in dyskeratosis congenita. Mutations affecting ribosome assembly or function are associated with Diamond-Blackfan anemia, dyskeratosis congenita, and Shwachman-Diamond syndrome. These findings raise new questions about the molecular mechanisms regulating hematopoiesis and leukemogenesis. Clinical implications arising from these molecular studies are explored.

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Warren, Alan J. « Shwachman-Diamond Syndrome and the Quality Control of Ribosome Assembly ». Blood 128, n^o 22 (2 décembre 2016) : SCI—42—SCI—42. http://dx.doi.org/10.1182/blood.v128.22.sci-42.sci-42.

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Abstract The synthesis of new ribosomes is a fundamental conserved process in all cells. Ribosomes are pre-assembled in the nucleus and subsequently exported to the cytoplasm where they acquire functionality through a series of final maturation steps that include formation of the catalytic center, recruitment of the last remaining ribosomal proteins and the removal of inhibitory assembly factors. Surprisingly, a number of key factors (SBDS, DNAJC21, RPL10 (uL16)) involved in late cytoplasmic maturation of the large (60S) ribosomal subunit are mutated in both inherited and sporadic forms of leukemia. In particular, biallelic mutations in the SBDS gene cause Shwachman-Diamond syndrome (SDS), a recessive bone marrow failure disorder with significant predisposition to acute myeloid leukemia. By using the latest advances in single-particle cryo-electron microscopy to elucidate the function of the SBDS protein, we have uncovered an elegant mechanism that couples final maturation of the 60S subunit to a quality control assessment of the structural integrity of the active sites of the ribosome. Further molecular dissection of this pathway may inform novel therapeutic strategies for SDS and leukemia more generally. References: 1. Weis F, Giudice E, Churcher M,et al. Mechanism of eIF6 release from the nascent 60S ribosomal subunit. Nat Struct Mol Biol, (2015) Nov;22(11):914-9. 2. Wong CC, Traynor D, Basse N, et al. Defective ribosome assembly in Shwachman-Diamond syndrome. Plenary Paper, Blood. 2011 Oct 20;118(16):4305-12. 3. Finch AJ, Hilcenko C, Basse N, et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev (2011) 25: 917-929. 4. Menne TM, Goyenechea B, Sánchez-Puig N, et al. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nature Genetics (2007) 39: 486-95. Disclosures No relevant conflicts of interest to declare.

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Dror, Yigal. « p53 Protein Overexpression in Shwachman-Diamond Syndrome ». Archives of Pathology & ; Laboratory Medicine 126, n^o 10 (1 octobre 2002) : 1157–58. http://dx.doi.org/10.5858/2002-126-1157b-ppoiss.

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Khavkin, A. I., N. S. Rachkova et S. L. Morozov. « A clinical case of Shwachman–Diamond syndrome ». Voprosy detskoj dietologii 10, n^o 5 (2012) : 64–68. http://dx.doi.org/10.20953/1727-5784-2012-5-64-68.

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Kirkham, SE, J. Hinks, M. Schwarz, Z. Ahmad, C. Mason, KJ Lindley, P. Ancliff et N. Shah. « GENOTYPE-PHENOTYPE CORRELATION IN SHWACHMAN-DIAMOND SYNDROME ». Journal of Pediatric Gastroenterology and Nutrition 40, n^o 5 (mai 2005) : 630. http://dx.doi.org/10.1097/00005176-200505000-00060.

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Myers, Kasiani C., Elissa Muse Furutani, Sara Loveless, Maggie Malsch, Ashley Galvin, Ellie Fratt, Jordan Larson et al. « The Shwachman-Diamond Syndrome Registry : Hematologic Complications ». Blood 132, Supplement 1 (29 novembre 2018) : 3871. http://dx.doi.org/10.1182/blood-2018-99-117582.

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Abstract The Shwachman-Diamond Syndrome Registry (SDSR) was established in December 2008 with the goal of understanding the natural history and biology of SDS to improve the lives of people with SDS. The SDSR has enrolled 220 patients with biallelic SBDS mutations or SDS-Like features. Longitudinal data has been collected for 176 patients with a median duration of follow-up of 10.7 (0.3-52.8) years. Biallelic SBDS mutations were noted in 117 patients, and biallelic DNAJC21 mutations in one patient. Sequencing of genetically undefined cases did not identify EFL1 or SRP54 mutations. Ongoing characterization of SBDS mutation-negative individuals has identified subgroups of clinically defined SDS individuals, as well as a more heterogenous subgroup with features of SDS but who do not meet classic diagnostic criteria. Clinical characteristics and outcomes of patients with biallelic SBDS mutations were examined. AML developed in 5 patients and MDS in 11 patients at a median age 37.9 years (range, 19.5-47.3) and 10.7 years (range, 1-45) respectively. No solid tumors were diagnosed. 21 individuals have undergone stem cell transplantation. Overall survival was 91% in the 10 years since registry establishment, with deaths mainly caused by myelodysplasia (MDS) (n=3) and acute myeloid leukemia (AML) (n=4). One individual with MDS died of hepatic failure unrelated to MDS. Hematologic parameters, trends over time, and clinical correlations were examined.. Cytopenias were almost universal (98.8%) and often intermittent, with neutropenia the most frequent in 98.8%, anemia in 16.5% and thrombocytopenia in 45.3%. Bone marrow evaluations were available in 98, with 88.2% demonstrating marrow hypoplasia. Notable, marrow hypoplasia was progressive, with average marrow cellularity of 74% in patients <1 year of age (n=13), 45% in marrows of children 1-19 years of age (n=277), and 38% in marrows of adults 19-43 years of age (n=38). Cases with discordance between marrow cellularity and cytopenias were noted, so a systematic analysis of the patterns of marrow cellularity and blood counts is ongoing. Marrow dysmorphologies were common and present in in 40.9%, 49.5%, and 28% of the erythroid, myeloid and megakaryocyte lineages respectively, highlighting the need for review from pathologists experienced in the baseline dysmorphologies common in SDS. Marrow cytogenetic data were available for 89 patients of whom 30 (33%) developed clonal abnormalities diagnosed at median age of 8.67 years (range, 0.3-38.9). The most common clonal abnormalities were iso(7q) (n=4) and del(20q) (n=13). Blood count patterns associated with these clonal abnormalities were variable. Notably, iso7q clones were transient while the majority of del20q clones were persistent. One patient with a history of an iso(7q) clone and one with a del(20q) clone progressed to MDS. There is a paucity of evidence to guide optimal surveillance strategies for leukemia predisposition syndromes. The SDSR revealed wide variation in clinical practice amongst local hematologists including: 1) no surveillance for well-appearing patients, 2) intermittent blood counts, or 3) bone marrow exams of variable frequency with variable testing of cytogenetics and FISH. Some patients were not followed by hematology because they looked well until they presented with AML. In one illustrative case, a teenage patient with a transient iso7q clone had improving hemoglobin, platelet counts, absolute neutrophil counts, and reduction in red cell macrocytosis over the year prior to diagnosis of MDS. Additional clinical and laboratory studies are underway to provide evidence-based guidelines and to develop more sensitive tests for optimal surveillance of patients with predisposition to myeloid malignancies. Disclosures Myers: Novartis: Membership on an entity's Board of Directors or advisory committees; Bellicum Pharmaceuticals: Membership on an entity's Board of Directors or advisory committees.

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McReynolds, Lisa J., Kristine Jones, Kedest Teshome, Alyssa Kennedy, Akiko Shimamura, Neelam Giri, Blanche P. Alter et Sharon A. Savage. « Large Genomic Deletions in Shwachman-Diamond Syndrome ». Blood 132, Supplement 1 (29 novembre 2018) : 2586. http://dx.doi.org/10.1182/blood-2018-99-118495.

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Abstract Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure syndrome (IBMFS) with gastrointestinal manifestations (pancreatic insufficiency) and cytopenias, primarily neutropenia. Skeletal dysplasias and short stature are frequent. Patients with SDS are at significantly increased risk of myelodysplastic syndrome and acute myeloid leukemia. More than 90% of patients have autosomal recessive inheritance of germline pathogenic variants in SBDS, a ribosome biogenesis gene. The most common variants are c.258+2T>C (disrupts the donor splice site of intron 2, leading to an 8bp deletion and a premature protein truncation due to a frameshift); and c.183_184TA>CT (introduces an in-frame stop codon). To date, the vast majority of pathogenic alleles reported have been single nucleotide variants (SNVs) or small insertions/deletions. Rare cases have been reported with SBDS exon 3 deletions. The National Cancer Institute's IBMFS study is a longitudinal cohort study with 521 families enrolled, including 54 SDS or SDS-like families. Through clinical testing or whole exome sequencing all but nine families have had their disease-causing alleles identified. Three of the nine families had a known single pathogenic variant in SBDS. Array comparative genomic hybridization (aCGH) was uninformative in all but one. We initially focused on the family with a known SBDS c.258+2T>C and potential deletion on aCGH. The 27 year-old (yo) male proband was diagnosed with SDS at 5yo due to a history of malabsorption, requiring pancreatic enzyme supplementation, failure to thrive (FTT), short stature and neutropenia. He also has metaphyseal dysplasia, scoliosis, psychomotor retardation and learning disability. A bone marrow (BM) biopsy at 21yo showed hypoplasia with mild dysplastic changes and a del20q clone. aCGH showed a possible large deletion, but the resolution was too low to determine exact breakpoints. Therefore, long-range Single Molecule, Real-Time (SMRT) Sequencing (PacBio Systems) was undertaken. This identified a read spanning a 19kb deletion with exact coordinates (hg19: chr7:66,436,397-66,455,294), and was confirmed with polymerase chain reaction and Sanger sequencing. This deletion removes part of intron 4, all of exon 5 and the 3'UTR of SBDS. Western blotting for SBDS showed significant decrease in protein production from cultured fibroblasts. This deletion in combination with the known SBDS variant and western blot is consistent with the SDS phenotype in this patient. We then designed a targeted SMRT sequencing panel consisting of the four published SDS genes: SBDS, EFL1, DNAJC21 and SRP54 to evaluate the remaining families. The second proband evaluated was a 19yo female heterozygous for the SBDS c.258+2T>C variant. She had a history of malabsorption requiring enzyme supplementation and FTT in childhood. She has short stature, deformity of the distal metaphysis of the ulnae, and ongoing neutropenia with a hypocellular BM but no cytogenetic clones. Targeted SMRT sequencing identified a deletion in SBDS which deletes all of exon 3 and part of the surrounding introns (872bp, hg19: chr7: 66,457,992-66,458,863). Western blotting for SBDS showed a decrease in protein production in cultured fibroblasts consistent with a diagnosis of SDS. Sequencing of the family members indicated the deletion was paternal in origin, while the SNV was maternal. A deletion of SRP54 was identified in two affected siblings from a third family; both siblings have a history of neutropenia and mild BM dysplasia. The deletion encompasses exon 8 of SRP54, which encodes part of the G-domain, critical for SRP54 cotranslational function, and is near other reported autosomal dominant pathogenic variants. One affected individual in this family also has a single SBDS c.183_184TA>CT variant, but had normal SBDS protein levels by western blot. In this family, the SBDS variant is likely not disease causing as individuals with heterozygous pathogenic variants of SBDS are generally asymptomatic, but rather the dominant SRP54 deletion is the disease causing genetic alteration in this SDS-like family. No large deletions or insertions were identified in DNAJC21. Analysis of EFL1 is on-going. These cases illustrate the advantages of using long-read sequencing methodologies to identify large deletions which are not readily found using short-read sequencing, and identify large deletions as a novel mechanism of SDS inheritance. Disclosures No relevant conflicts of interest to declare.

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Grinspan, Zachary M., et Cheryl A. Pikora. « Infections in Patients with Shwachman-Diamond Syndrome ». Pediatric Infectious Disease Journal 24, n^o 2 (février 2005) : 179–81. http://dx.doi.org/10.1097/01.inf.0000151042.90125.f6.

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Wong, Chi C., David Traynor, Nicolas Basse, Robert R. Kay et Alan J. Warren. « Defective ribosome assembly in Shwachman-Diamond syndrome ». Blood 118, n^o 16 (20 octobre 2011) : 4305–12. http://dx.doi.org/10.1182/blood-2011-06-353938.

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AbstractShwachman-Diamond syndrome (SDS), a recessive leukemia predisposition disorder characterized by bone marrow failure, exocrine pancreatic insufficiency, skeletal abnormalities and poor growth, is caused by mutations in the highly conserved SBDS gene. Here, we test the hypothesis that defective ribosome biogenesis underlies the pathogenesis of SDS. We create conditional mutants in the essential SBDS ortholog of the ancient eukaryote Dictyostelium discoideum using temperature-sensitive, self-splicing inteins, showing that mutant cells fail to grow at the restrictive temperature because ribosomal subunit joining is markedly impaired. Remarkably, wild type human SBDS complements the growth and ribosome assembly defects in mutant Dictyostelium cells, but disease-associated human SBDS variants are defective. SBDS directly interacts with the GTPase elongation factor-like 1 (EFL1) on nascent 60S subunits in vivo and together they catalyze eviction of the ribosome antiassociation factor eukaryotic initiation factor 6 (eIF6), a prerequisite for the translational activation of ribosomes. Importantly, lymphoblasts from SDS patients harbor a striking defect in ribosomal subunit joining whose magnitude is inversely proportional to the level of SBDS protein. These findings in Dictyostelium and SDS patient cells provide compelling support for the hypothesis that SDS is a ribosomopathy caused by corruption of an essential cytoplasmic step in 60S subunit maturation.

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Stockman, J. A. « Defective ribosome assembly in Shwachman-Diamond syndrome ». Yearbook of Pediatrics 2013 (janvier 2013) : 55–58. http://dx.doi.org/10.1016/j.yped.2012.03.083.

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Belkind-Gerson, Jaime, Patricia Ontiveros-Nevares, Valeria Ocampo-Roosens et Daniel Sandoval-Juárez. « Shwachman-Diamond Syndrome in a Mexican Family ». Archives of Medical Research 32, n^o 4 (juillet 2001) : 318–23. http://dx.doi.org/10.1016/s0188-4409(01)00293-4.

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Valli, Roberto, Annalisa Frattini et Antonella Minelli. « Shwachman-Diamond syndrome : diagnosis, pathogenesis and prognosis ». Expert Opinion on Orphan Drugs 5, n^o 10 (22 août 2017) : 753–67. http://dx.doi.org/10.1080/21678707.2017.1367282.

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Robberecht, E., P. Nachtegaele, R. Van Rattinghe, M. Afschrift, M. Kunnen et R. Verhaaren. « Pancreatic lipomatosis in the Shwachman-Diamond syndrome ». Pediatric Radiology 15, n^o 5 (juillet 1985) : 348–49. http://dx.doi.org/10.1007/bf02386774.

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Kathuria, Rachana, Ujjal Poddar et Surender Kumar Yachha. « Shwachman-diamond syndrome : Are we missing many ? » Indian Pediatrics 49, n^o 9 (septembre 2012) : 748–49. http://dx.doi.org/10.1007/s13312-012-0138-x.

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Hsu, JW, G. Vogelsang, RJ Jones et RA Brodsky. « Bone marrow transplantation in Shwachman–Diamond syndrome ». Bone Marrow Transplantation 30, n^o 4 (août 2002) : 255–58. http://dx.doi.org/10.1038/sj.bmt.1703631.

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Le Gloan, Laurianne, Nicolas Blin et Jean-Marc Langlard. « Atrioventricular septal defect in a case of Shwachman–Diamond syndrome ». Cardiology in the Young 24, n^o 3 (27 juin 2013) : 549–51. http://dx.doi.org/10.1017/s104795111300084x.

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AbstractShwachman–Diamond syndrome is an inherited bone marrow failure and cancer predisposition syndrome that affects multiple organ systems, including bone, pancreas, and, to a lesser extent, the heart. Myocardial fibrosis, necrosis, and a case of dilated cardiomyopathy have, so far, been described. We report the first case of atrioventricular septal defect in a patient with Shwachman–Diamond syndrome.

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