Frequent BCOR Aberrations in Extranodal NK/T-Cell Lymphoma, Nasal Type.

Frequent BCOR Aberrations in Extranodal NK/T-Cell Lymphoma, Nasal Type.

Genes Chromosomes Cancer. 2016 Jan 16;

Authors: Dobashi A, Tsuyama N, Asaka R, Togashi Y, Ueda K, Sakata S, Baba S, Sakamoto K, Hatake K, Takeuchi K

Abstract
Extranodal natural killer/T cell lymphoma (ENKTL) is a rare subtype of lymphoma. Recurrent mutations in the JAK-STAT pathway, recently reported in ENKTL cases, are interesting in terms of both pathogenesis and inhibitor therapy. However, the frequencies of these mutations are low and variable among reports, and other pathognomonic mutations in ENKTL remain to be elucidated. In the present study, we performed targeted capture sequencing of 602 cancer-related genes from 25 frozen ENKTL samples, 11 of which were matched to normal samples. We identified several recurrent somatic mutations involving BCOR (32%), TP53 (16%), DDX3X (12%), FAT4 (8%), NRAS (8%), MLL3 (12%) and MIR17HG (8%). The pattern of BCOR aberrations (1 nonsense and 5 frame-shift mutations, a mutation leading to a splicing error, and gene loss) suggested that loss of function of BCOR was the functionally important outcome of such changes. We reviewed the literature and reanalyzed the public data on BCOR aberrations and found that the aberrations were frequently found in myeloid neoplasms, but, interestingly, were highly specific to ENKTL among lymphoid malignancies. Given the high frequency and pattern of aberration, BCOR is likely to play an important role in ENKTL pathogenesis as a tumor suppressor gene. This article is protected by copyright. All rights reserved.

PMID: 26773734 [PubMed - as supplied by publisher]

from #MedicinebyAlexandrosSfakianakis via xlomafota13 on Inoreader http://ift.tt/1Jagcc1
via IFTTT