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- Title
Germline cytotoxic lymphocytes defective mutations in Chinese patients with lymphoma.
- Authors
XUE CHEN; YANG ZHANG; FANG WANG; MANGJU WANG; WEN TENG; YUEHUI LIN; XIANGPING HAN; FANGYUAN JIN; Yuanli Xu; PANXIANG CAO; JIANCHENG FANG; PING ZHU; CHUNRONG TONG; HONGXING LIU
- 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.
- Subjects
GERM cells; GENETIC mutation; LYMPHOCYTES; HEALTH of Chinese people; LYMPHOMAS; PERFORINS
- Publication
Oncology Letters, 2017, Vol 14, Issue 5, p5249
- ISSN
1792-1074
- Publication type
Article
- DOI
10.3892/ol.2017.6898