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t(12;22)(q13;q12)

MedGen UID:
272948
•Concept ID:
C1515719
•
Cell or Molecular Dysfunction

Definition

A cytogenetic abnormality that refers to the a translocation involving the long arm (q13) of chromosome 12 and the long arm (q12) of chromosome 22. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(12;22)(q13;q12)

Recent clinical studies

Etiology

Primary Cutaneous Clear Cell Sarcoma, Clinical Outcome With Sentinel Lymph Nodes Status.
Alhatem A, Nudelman M, Schwartz RA, Hassoun P, Malliah RB, Lambert WC
Am J Clin Pathol 2020 May 5;153(6):799-810. doi: 10.1093/ajcp/aqaa009. PMID: 32157275
Efficacy of trabectedin (ecteinascidin-743) in advanced pretreated myxoid liposarcomas: a retrospective study.
Grosso F, Jones RL, Demetri GD, Judson IR, Blay JY, Le Cesne A, Sanfilippo R, Casieri P, Collini P, Dileo P, Spreafico C, Stacchiotti S, Tamborini E, Tercero JC, Jimeno J, D'Incalci M, Gronchi A, Fletcher JA, Pilotti S, Casali PG
Lancet Oncol 2007 Jul;8(7):595-602. doi: 10.1016/S1470-2045(07)70175-4. PMID: 17586092
Expression profiling of t(12;22) positive clear cell sarcoma of soft tissue cell lines reveals characteristic up-regulation of potential new marker genes including ERBB3.
Schaefer KL, Brachwitz K, Wai DH, Braun Y, Diallo R, Korsching E, Eisenacher M, Voss R, Van Valen F, Baer C, Selle B, Spahn L, Liao SK, Lee KA, Hogendoorn PC, Reifenberger G, Gabbert HE, Poremba C
Cancer Res 2004 May 15;64(10):3395-405. doi: 10.1158/0008-5472.CAN-03-0809. PMID: 15150091
Classification of clear-cell sarcoma as a subtype of melanoma by genomic profiling.
Segal NH, Pavlidis P, Noble WS, Antonescu CR, Viale A, Wesley UV, Busam K, Gallardo H, DeSantis D, Brennan MF, Cordon-Cardo C, Wolchok JD, Houghton AN
J Clin Oncol 2003 May 1;21(9):1775-81. doi: 10.1200/JCO.2003.10.108. PMID: 12721254
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

Diagnosis

Pulmonary salivary gland tumor-hyalinizing clear cell carcinoma: a literature review.
Wang X, Hu S, Lu H
Diagn Pathol 2024 Feb 22;19(1):37. doi: 10.1186/s13000-024-01460-x. PMID: 38389101Free PMC Article
Angiomatoid fibrous histiocytoma: a review with recent genetic findings.
Thway K
Arch Pathol Lab Med 2008 Feb;132(2):273-7. doi: 10.5858/2008-132-273-AFHARW. PMID: 18251589
Clear cell sarcoma of tendons and aponeuroses: a review.
Dim DC, Cooley LD, Miranda RN
Arch Pathol Lab Med 2007 Jan;131(1):152-6. doi: 10.5858/2007-131-152-CCSOTA. PMID: 17227118
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
Translocation t(12;22)(q13;q12.2-12.3) in a clear cell sarcoma of tendons and aponeuroses.
Mrózek K, Karakousis CP, Perez-Mesa C, Bloomfield CD
Genes Chromosomes Cancer 1993 Apr;6(4):249-52. doi: 10.1002/gcc.2870060412. PMID: 7685631

Therapy

Trabectedin is a promising antitumor agent potentially inducing melanocytic differentiation for clear cell sarcoma.
Nakai T, Imura Y, Tamiya H, Yamada S, Nakai S, Yasuda N, Kaneko K, Outani H, Takenaka S, Hamada K, Myoui A, Araki N, Ueda T, Itoh K, Yoshikawa H, Naka N
Cancer Med 2017 Sep;6(9):2121-2130. Epub 2017 Jul 26 doi: 10.1002/cam4.1130. PMID: 28745431Free PMC Article
Efficacy of trabectedin (ecteinascidin-743) in advanced pretreated myxoid liposarcomas: a retrospective study.
Grosso F, Jones RL, Demetri GD, Judson IR, Blay JY, Le Cesne A, Sanfilippo R, Casieri P, Collini P, Dileo P, Spreafico C, Stacchiotti S, Tamborini E, Tercero JC, Jimeno J, D'Incalci M, Gronchi A, Fletcher JA, Pilotti S, Casali PG
Lancet Oncol 2007 Jul;8(7):595-602. doi: 10.1016/S1470-2045(07)70175-4. PMID: 17586092
Association of the t(12;22)(q13;q12) EWS/ATF1 rearrangement with polyphenotypic round cell sarcoma of bone: a case report.
Somers GR, Viero S, Nathan PC, Teshima I, Pereira C, Zielenska M
Am J Surg Pathol 2005 Dec;29(12):1673-9. doi: 10.1097/01.pas.0000176434.19197.c1. PMID: 16327442
Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).
Birch NC, Antonescu CR, Nelson M, Sarran L, Neff JR, Seemayer T, Bridge JA
J Mol Diagn 2003 Aug;5(3):191-4. doi: 10.1016/S1525-1578(10)60472-2. PMID: 12876210Free PMC Article

Prognosis

Protein arginine methyltransferase 5 is essential for oncogene product EWSR1-ATF1-mediated gene transcription in clear cell sarcoma.
Li BX, David LL, Davis LE, Xiao X
J Biol Chem 2022 Oct;298(10):102434. Epub 2022 Aug 27 doi: 10.1016/j.jbc.2022.102434. PMID: 36041632Free PMC Article
Primary Cutaneous Clear Cell Sarcoma, Clinical Outcome With Sentinel Lymph Nodes Status.
Alhatem A, Nudelman M, Schwartz RA, Hassoun P, Malliah RB, Lambert WC
Am J Clin Pathol 2020 May 5;153(6):799-810. doi: 10.1093/ajcp/aqaa009. PMID: 32157275
Intra-Extracranial Primary Clear Cell Sarcoma: The First Report and Review of the Literature.
Chen G, Sun S, Du Z, Sun Y, Pan Z, Che X, Xie R
World Neurosurg 2019 Jun;126:e1140-e1146. Epub 2019 Mar 14 doi: 10.1016/j.wneu.2019.02.216. PMID: 30880192
Efficacy of trabectedin (ecteinascidin-743) in advanced pretreated myxoid liposarcomas: a retrospective study.
Grosso F, Jones RL, Demetri GD, Judson IR, Blay JY, Le Cesne A, Sanfilippo R, Casieri P, Collini P, Dileo P, Spreafico C, Stacchiotti S, Tamborini E, Tercero JC, Jimeno J, D'Incalci M, Gronchi A, Fletcher JA, Pilotti S, Casali PG
Lancet Oncol 2007 Jul;8(7):595-602. doi: 10.1016/S1470-2045(07)70175-4. PMID: 17586092
Clear cell sarcoma of tendons and aponeuroses: a review.
Dim DC, Cooley LD, Miranda RN
Arch Pathol Lab Med 2007 Jan;131(1):152-6. doi: 10.5858/2007-131-152-CCSOTA. PMID: 17227118

Clinical prediction guides

Gastrointestinal clear cell sarcoma-like tumour of the ascending colon.
Gahanbani Ardakani A, Boyle DJ, Elton C
Ann R Coll Surg Engl 2016 Mar;98(3):e37-9. doi: 10.1308/rcsann.2016.0073. PMID: 26890846Free PMC Article
Cutaneous clear cell sarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 12 cases emphasizing its distinction from dermal melanoma.
Hantschke M, Mentzel T, Rütten A, Palmedo G, Calonje E, Lazar AJ, Kutzner H
Am J Surg Pathol 2010 Feb;34(2):216-22. doi: 10.1097/PAS.0b013e3181c7d8b2. PMID: 20087159Free PMC Article
Myxoid clear cell sarcoma.
Kim YC, Vandersteen DP, Jung HG
Am J Dermatopathol 2005 Feb;27(1):51-5. doi: 10.1097/01.dad.0000141547.31306.4e. PMID: 15677980
Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).
Birch NC, Antonescu CR, Nelson M, Sarran L, Neff JR, Seemayer T, Bridge JA
J Mol Diagn 2003 Aug;5(3):191-4. doi: 10.1016/S1525-1578(10)60472-2. PMID: 12876210Free PMC Article
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

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