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Rearrangement of 12p13.2

MedGen UID:
1746517
•Concept ID:
C5419220
•
Cell or Molecular Dysfunction
Synonym: 12p13.2 Rearrangement

Definition

A cytogenetic abnormality indicating the presence of rearrangement involving the short arm segment p12.3 of chromosome 12. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRearrangement of 12p13.2

Recent clinical studies

Etiology

Genomic aberrations involving 12p/ETV6 are highly prevalent in blastic plasmacytoid dendritic cell neoplasms and might represent early clonal events.
Tang Z, Li Y, Wang W, Yin CC, Tang G, Aung PP, Hu S, Lu X, Toruner GA, Medeiros LJ, Khoury JD
Leuk Res 2018 Oct;73:86-94. Epub 2018 Sep 17 doi: 10.1016/j.leukres.2018.09.006. PMID: 30248580
ETV6-RUNX1 fusion gene and additional genetic changes in infant leukemia: a genome-wide analysis.
Emerenciano M, Bungaro S, Cazzaniga G, Dorea MD, Coser VM, Magalhães IQ, Biondi A, Pombo-de-Oliveira MS
Cancer Genet Cytogenet 2009 Sep;193(2):86-92. doi: 10.1016/j.cancergencyto.2009.04.021. PMID: 19665068

Diagnosis

Primary Mammary-Analogue Secretory Carcinoma of the Lung: A Rare Entity With an Unusual Location.
Ramos J, Mahmud W, Ocampo FA, Alex G, Gattuso P
Int J Surg Pathol 2020 Oct;28(7):775-781. Epub 2020 Apr 12 doi: 10.1177/1066896920914975. PMID: 32279588
A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia.
Krstic AD, Impera L, Guc-Scekic M, Lakic N, Djokic D, Slavkovic B, Storlazzi CT
Cancer Genet Cytogenet 2009 Dec;195(2):125-31. doi: 10.1016/j.cancergencyto.2009.07.002. PMID: 19963112
Congenital fibrosarcoma with a novel complex 3-way translocation t(12;15;19) and unusual histologic features.
Mariño-Enríquez A, Li P, Samuelson J, Rossi MR, Reyes-Múgica M
Hum Pathol 2008 Dec;39(12):1844-8. Epub 2008 Jul 25 doi: 10.1016/j.humpath.2008.04.013. PMID: 18657299

Therapy

Genomic aberrations involving 12p/ETV6 are highly prevalent in blastic plasmacytoid dendritic cell neoplasms and might represent early clonal events.
Tang Z, Li Y, Wang W, Yin CC, Tang G, Aung PP, Hu S, Lu X, Toruner GA, Medeiros LJ, Khoury JD
Leuk Res 2018 Oct;73:86-94. Epub 2018 Sep 17 doi: 10.1016/j.leukres.2018.09.006. PMID: 30248580
Identification of cryptic aberrations and characterization of translocation breakpoints using array CGH in high hyperdiploid childhood acute lymphoblastic leukemia.
Paulsson K, Heidenblad M, Mörse H, Borg A, Fioretos T, Johansson B
Leukemia 2006 Nov;20(11):2002-7. Epub 2006 Sep 14 doi: 10.1038/sj.leu.2404372. PMID: 16990785

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