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t(21;22)

MedGen UID:
925474
•Concept ID:
C4287942
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that involves a translocation between chromosomes 21 and 22. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(21;22)

Professional guidelines

PubMed

Integrated multimodal genetic testing of Ewing sarcoma--a single-institution experience.
Warren M, Weindel M, Ringrose J, Venable C, Reyes A, Terashima K, Rao P, Chintagumpala M, Hicks MJ, Lopez-Terrada D, Lu XY
Hum Pathol 2013 Oct;44(10):2010-9. Epub 2013 May 22 doi: 10.1016/j.humpath.2013.03.003. PMID: 23706910
Soft tissue sarcoma in children: prognosis and management.
Koscielniak E, Morgan M, Treuner J
Paediatr Drugs 2002;4(1):21-8. doi: 10.2165/00128072-200204010-00003. PMID: 11817983
Assessment of molecular genetic detection of chromosome translocations in the differential diagnosis of pediatric sarcomas.
Dockhorn-Dworniczak B, Schäfer KL, Blasius S, Christiansen H, Koscielniak E, Ritter J, Winkelmann W, Jürgens H, Böcker W
Klin Padiatr 1997 Jul-Aug;209(4):156-64. doi: 10.1055/s-2008-1043964. PMID: 9293447

Recent clinical studies

Etiology

Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.
Vujisic S, Korac P, Pavlica M, Vujnovic N, Dmitrovic R
J Assist Reprod Genet 2020 Jan;37(1):231-238. Epub 2019 Dec 13 doi: 10.1007/s10815-019-01648-x. PMID: 31834537Free PMC Article
Extraosseous Ewing sarcoma with foci of neuroblastoma-like differentiation associated with EWSR1(Ewing sarcoma breakpoint region 1)/FLI1 translocation without prior chemotherapy.
Vali K, Kokta V, Beaunoyer M, Fetni R, Teira P, Sartelet H
Hum Pathol 2012 Oct;43(10):1772-6. Epub 2012 Jun 14 doi: 10.1016/j.humpath.2012.03.006. PMID: 22703924
Soft tissue sarcoma in children: prognosis and management.
Koscielniak E, Morgan M, Treuner J
Paediatr Drugs 2002;4(1):21-8. doi: 10.2165/00128072-200204010-00003. PMID: 11817983
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Assessment of molecular genetic detection of chromosome translocations in the differential diagnosis of pediatric sarcomas.
Dockhorn-Dworniczak B, Schäfer KL, Blasius S, Christiansen H, Koscielniak E, Ritter J, Winkelmann W, Jürgens H, Böcker W
Klin Padiatr 1997 Jul-Aug;209(4):156-64. doi: 10.1055/s-2008-1043964. PMID: 9293447

Diagnosis

A Review of Effusion Cytomorphology of Small Round Cell Tumors.
Han LM, VandenBussche CJ, Abildtrup M, Chandra A, Vohra P
Acta Cytol 2022;66(4):336-346. Epub 2021 Jul 2 doi: 10.1159/000516497. PMID: 34218227
Integrated multimodal genetic testing of Ewing sarcoma--a single-institution experience.
Warren M, Weindel M, Ringrose J, Venable C, Reyes A, Terashima K, Rao P, Chintagumpala M, Hicks MJ, Lopez-Terrada D, Lu XY
Hum Pathol 2013 Oct;44(10):2010-9. Epub 2013 May 22 doi: 10.1016/j.humpath.2013.03.003. PMID: 23706910
Immunostaining of the p30/32MIC2 antigen and molecular detection of EWS rearrangements for the diagnosis of Ewing's sarcoma and peripheral neuroectodermal tumor.
Scotlandi K, Serra M, Manara MC, Benini S, Sarti M, Maurici D, Lollini PL, Picci P, Bertoni F, Baldini N
Hum Pathol 1996 Apr;27(4):408-16. doi: 10.1016/s0046-8177(96)90115-x. PMID: 8617485
Biphenotypic sarcomas with myogenic and neural differentiation express the Ewing's sarcoma EWS/FLI1 fusion gene.
Sorensen PH, Shimada H, Liu XF, Lim JF, Thomas G, Triche TJ
Cancer Res 1995 Mar 15;55(6):1385-92. PMID: 7882340
The emerging molecular genetics of sarcoma translocations.
Ladanyi M
Diagn Mol Pathol 1995 Sep;4(3):162-73. doi: 10.1097/00019606-199509000-00003. PMID: 7493135

Therapy

Chronic myeloid leukemia with a rare variant Philadelphia translocation: t(9;22;21)(q34;q11;q22).
Guillaume B, Ameye G, Libouton JM, Dierlamm J, Vaerman JL, Straetmans N, Ferrant A, Verellen-Dumoulin C, Michaux L
Cancer Genet Cytogenet 2000 Jan 15;116(2):166-9. doi: 10.1016/s0165-4608(99)00115-6. PMID: 10640151
Banding studies of chromosomal abnormalities in patients with acute lymphocytic leukemia.
Cimino MC, Rowley JD, Kinnealey A, Variakojis D, Golomb HM
Cancer Res 1979 Jan;39(1):227-38. PMID: 367578

Prognosis

A Review of Effusion Cytomorphology of Small Round Cell Tumors.
Han LM, VandenBussche CJ, Abildtrup M, Chandra A, Vohra P
Acta Cytol 2022;66(4):336-346. Epub 2021 Jul 2 doi: 10.1159/000516497. PMID: 34218227
Chromosomal segregation in sperm of the Robertsonian translocation (21;22) carrier and its impact on IVF outcome.
Vujisic S, Korac P, Pavlica M, Vujnovic N, Dmitrovic R
J Assist Reprod Genet 2020 Jan;37(1):231-238. Epub 2019 Dec 13 doi: 10.1007/s10815-019-01648-x. PMID: 31834537Free PMC Article
Soft tissue sarcoma in children: prognosis and management.
Koscielniak E, Morgan M, Treuner J
Paediatr Drugs 2002;4(1):21-8. doi: 10.2165/00128072-200204010-00003. PMID: 11817983
Presence of tumor cells in bone marrow but not in blood is associated with adverse prognosis in patients with Ewing's tumor. Société Française d'Oncologie Pédiatrique.
Fagnou C, Michon J, Peter M, Bernoux A, Oberlin O, Zucker JM, Magdelenat H, Delattre O
J Clin Oncol 1998 May;16(5):1707-11. doi: 10.1200/JCO.1998.16.5.1707. PMID: 9586882
Immunohistochemical and molecular genetic approaches to soft tissue tumor diagnosis: a primer.
Hibshoosh H, Lattes R
Semin Oncol 1997 Oct;24(5):515-25. PMID: 9344317

Clinical prediction guides

The NFATc2 gene is involved in a novel cloned translocation in a Ewing sarcoma variant that couples its function in immunology to oncology.
Szuhai K, Ijszenga M, de Jong D, Karseladze A, Tanke HJ, Hogendoorn PC
Clin Cancer Res 2009 Apr 1;15(7):2259-68. Epub 2009 Mar 24 doi: 10.1158/1078-0432.CCR-08-2184. PMID: 19318479
Presence of tumor cells in bone marrow but not in blood is associated with adverse prognosis in patients with Ewing's tumor. Société Française d'Oncologie Pédiatrique.
Fagnou C, Michon J, Peter M, Bernoux A, Oberlin O, Zucker JM, Magdelenat H, Delattre O
J Clin Oncol 1998 May;16(5):1707-11. doi: 10.1200/JCO.1998.16.5.1707. PMID: 9586882
The role of cytogenetics in the classification of soft tissue tumours.
Dei Tos AP, Dal Cin P
Virchows Arch 1997 Aug;431(2):83-94. doi: 10.1007/s004280050073. PMID: 9293889
Olfactory neuroblastoma is a peripheral primitive neuroectodermal tumor related to Ewing sarcoma.
Sorensen PH, Wu JK, Berean KW, Lim JF, Donn W, Frierson HF, Reynolds CP, López-Terrada D, Triche TJ
Proc Natl Acad Sci U S A 1996 Feb 6;93(3):1038-43. doi: 10.1073/pnas.93.3.1038. PMID: 8577710Free PMC Article
The emerging molecular genetics of sarcoma translocations.
Ladanyi M
Diagn Mol Pathol 1995 Sep;4(3):162-73. doi: 10.1097/00019606-199509000-00003. PMID: 7493135

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