Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.

Abstract:

:Certain patients with lymphoma may harbor mutations in perforin 1 (PRF1), unc-13 homolog D (UNC13D), syntaxin 11 (STX11), STXBP2 (syntaxin binding protein 2) or SH2 domain containing 1A (SH2D1A), which causes functional defects of cytotoxic lymphocytes. Data regarding the association between genetic defects and the development of lymphoma in Chinese patients are limited to date. In the present study, 90 patients with lymphoma were analyzed for UNC13D, PRF1, STXBP2, STX11, SH2D1A and X-linked inhibitor of apoptosis. Mutations were observed in 24 (26.67%) patients; 16 patients exhibited mutations in UNC13D, 7 exhibited PRF1 mutations, and 1 exhibited monoallelic mutation in STX11. UNC13D c.2588G>A/p.G863D mutation was detected in 9 patients (10.00%) and in 4/210 controls (1.90%). This mutation was predicted to be pathogenic and it predominantly existed in the Chinese population. These findings suggest that impaired cytotoxic machinery may represent a predisposing factor for the development of lymphoma. Furthermore, these data describe a distinct mutation spectrum in Chinese patients with lymphoma, whereby UNC13D is the most frequently mutated gene. In addition, these findings suggest UNC13D c.2588G>A mutation is a founder mutation in Chinese patients.

journal_name

Oncol Lett

journal_title

Oncology letters

authors

Chen X,Zhang Y,Wang F,Wang M,Teng W,Lin Y,Han X,Jin F,Xu Y,Cao P,Fang J,Zhu P,Tong C,Liu H

doi

10.3892/ol.2017.6898

subject

Has Abstract

pub_date

2017-11-01 00:00:00

pages

5249-5256

issue

5

eissn

1792-1074

issn

1792-1082

pii

OL-0-0-6898

journal_volume

14

pub_type

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