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t(12;16)(q13;p11)

MedGen UID:
273737
•Concept ID:
C1515716
•
Cell or Molecular Dysfunction

Definition

A chromosomal translocation that involves chromosome 12 and chromosome 16. It is often associated with the development of angiomatoid fibrous histiocytoma or myxoid liposarcoma. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVt(12;16)(q13;p11)

Recent clinical studies

Etiology

Pathology and genetics of adipocytic tumors.
Hameed M
Cytogenet Genome Res 2007;118(2-4):138-47. doi: 10.1159/000108294. PMID: 18000364
Liposarcoma: new entities and evolving concepts.
Dei Tos AP
Ann Diagn Pathol 2000 Aug;4(4):252-66. doi: 10.1053/adpa.2000.8133. PMID: 10982304
Lipoblastoma and liposarcoma in children: an analysis of 9 cases and a review of the literature.
Miller GG, Yanchar NL, Magee JF, Blair GK
Can J Surg 1998 Dec;41(6):455-8. PMID: 9854536Free 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
Chromosome abnormalities in liposarcomas.
Ohjimi Y, Iwasaki H, Kaneko Y, Ishiguro M, Ohgami A, Fujita C, Shinohara N, Yoshitake K, Kikuchi M
Cancer Genet Cytogenet 1992 Dec;64(2):111-7. doi: 10.1016/0165-4608(92)90339-a. PMID: 1486559

Diagnosis

Contributions of cytogenetics and molecular cytogenetics to the diagnosis of adipocytic tumors.
Nishio J
J Biomed Biotechnol 2011;2011:524067. Epub 2011 Jan 11 doi: 10.1155/2011/524067. PMID: 21274402Free 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
Pathology and genetics of adipocytic tumors.
Hameed M
Cytogenet Genome Res 2007;118(2-4):138-47. doi: 10.1159/000108294. PMID: 18000364
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;16)(q13;p11) in myxoid liposarcoma and round cell liposarcoma: molecular and cytogenetic analysis.
Knight JC, Renwick PJ, Dal Cin P, Van den Berghe H, Fletcher CD
Cancer Res 1995 Jan 1;55(1):24-7. PMID: 7805034

Therapy

A comprehensive review of the current evidence for trabectedin in advanced myxoid liposarcoma.
Assi T, Kattan J, El Rassy E, Honore C, Dumont S, Mir O, Le Cesne A
Cancer Treat Rev 2019 Jan;72:37-44. Epub 2018 Nov 15 doi: 10.1016/j.ctrv.2018.11.003. PMID: 30468937
A systems biology approach to characterize the regulatory networks leading to trabectedin resistance in an in vitro model of myxoid liposarcoma.
Uboldi S, Calura E, Beltrame L, Fuso Nerini I, Marchini S, Cavalieri D, Erba E, Chiorino G, Ostano P, D'Angelo D, D'Incalci M, Romualdi C
PLoS One 2012;7(4):e35423. Epub 2012 Apr 16 doi: 10.1371/journal.pone.0035423. PMID: 22523595Free 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
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
Trisomy 8 as a nonrandom secondary change in myxoid liposarcoma.
Sreekantaiah C, Karakousis CP, Leong SP, Sandberg AA
Cancer Genet Cytogenet 1991 Feb;51(2):195-205. doi: 10.1016/0165-4608(91)90132-e. PMID: 1993305

Prognosis

Establishment and characterization of NCC-MLPS1-C1: a novel patient-derived cell line of myxoid liposarcoma.
Noguchi R, Yoshimatsu Y, Sei A, Hirabayashi K, Ozawa I, Kikuta K, Kondo T
Hum Cell 2021 Mar;34(2):667-674. Epub 2020 Nov 4 doi: 10.1007/s13577-020-00454-3. PMID: 33146842
Myxoid and round cell liposarcoma: a spectrum of myxoid adipocytic neoplasia.
Orvieto E, Furlanetto A, Laurino L, Dei Tos AP
Semin Diagn Pathol 2001 Nov;18(4):267-73. PMID: 11757867
Liposarcoma: new entities and evolving concepts.
Dei Tos AP
Ann Diagn Pathol 2000 Aug;4(4):252-66. doi: 10.1053/adpa.2000.8133. PMID: 10982304
Lipoblastoma and liposarcoma in children: an analysis of 9 cases and a review of the literature.
Miller GG, Yanchar NL, Magee JF, Blair GK
Can J Surg 1998 Dec;41(6):455-8. PMID: 9854536Free 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

Clinical prediction guides

Myxoid and round cell liposarcoma: a spectrum of myxoid adipocytic neoplasia.
Orvieto E, Furlanetto A, Laurino L, Dei Tos AP
Semin Diagn Pathol 2001 Nov;18(4):267-73. PMID: 11757867
Liposarcoma: new entities and evolving concepts.
Dei Tos AP
Ann Diagn Pathol 2000 Aug;4(4):252-66. doi: 10.1053/adpa.2000.8133. PMID: 10982304
Lipoblastoma and liposarcoma in children: an analysis of 9 cases and a review of the literature.
Miller GG, Yanchar NL, Magee JF, Blair GK
Can J Surg 1998 Dec;41(6):455-8. PMID: 9854536Free 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
Myxoid liposarcoma with t(12;16) (q13;p11) contains site-specific differences in methylation patterns surrounding a zinc-finger gene mapped to the breakpoint region on chromosome 12.
Paulien S, Turc-Carel C, Dal Cin P, Jani-Sait S, Sreekantaiah C, Leong SP, Vogelstein B, Kinzler KW, Sandberg AA, Gemmill RM
Cancer Res 1990 Dec 15;50(24):7902-7. PMID: 2253229

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