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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
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
Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection.
Baschat AA, Küpker W, al Hasani S, Diedrich K, Schwinger E
Hum Reprod 1996 Feb;11(2):330-3. doi: 10.1093/humrep/11.2.330. PMID: 8671219

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
Molecular diagnosis in Ewing family tumors: the Rizzoli experience--222 consecutive cases in four years.
Gamberi G, Cocchi S, Benini S, Magagnoli G, Morandi L, Kreshak J, Gambarotti M, Picci P, Zanella L, Alberghini M
J Mol Diagn 2011 May;13(3):313-24. Epub 2011 Mar 31 doi: 10.1016/j.jmoldx.2011.01.004. PMID: 21458383Free PMC Article
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
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
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
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
Unusual presentation of Ewing sarcoma with t(21;22) in a 3-year-old boy.
Massey GV, Dunn NL, Heckel JL, Davis EC, Jackson-Cook C, Russell EC
J Pediatr Hematol Oncol 1996 May;18(2):198-201. doi: 10.1097/00043426-199605000-00022. PMID: 8846139

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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