Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome

被引：65
作者：
Toita, Nariaki
Hatano, Norikazu
Ono, Satoru
Yamada, Masafumi
Kobalashi, Ryoji
Kobayashi, Ichiro
Kawamura, Nobuaki
Okano, Motohiko
Satoh, Akira
Nakagawa, Atsuko
Ohshima, Koichi
Shindoh, Masanobu
Takami, Tsuyoshi
Kobayashi, Kunihiko
Ariga, Tadashi
机构：
[1] Hokkaido Univ, Grad Sch Med, Dept Pediat, Kita Ku, Sapporo, Hokkaido, Japan
[2] Hokkaido Univ, Dept Oral Pathobiol Sci, Grad Sch Dent Med, Sapporo, Hokkaido, Japan
[3] Aichi Med Univ, Dept Pathol 2, Nagakute, Aichi 48011, Japan
[4] Fukuoka Univ, Sch Med, Dept Pathol, Fukuoka 81401, Japan
[5] Hokkaido Univ, Grad Sch Dent Med, Dept Oral Pathol, Sapporo, Hokkaido, Japan
[6] Gifu Univ, Dept Pathol 2, Sch Med, Gifu, Japan
[7] Kitami Red Cross Gen Hosp, Dept Pediat, Kitami, Hokkaido, Japan
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2007年 / 143A卷 / 07期
关键词：
LIG4; syndrome; DNIA ligase IV; immunodeficiency; EBV; lymphoma;
D O I：
10.1002/ajmg.a.31644
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 14-year-old Japanese girl with a progressing combined immunodeficiency had developed non-Hodgkin's diffuse large B cell lymphoma. Her molecular analysis showed a compound heterozygote of novel mutations in the LIG4 gene, M249V substitution and a five nucleotides deletion from nucleotide position 1,270-1,274. Site had also a set of characteristic clinical features of LIG4 syndrome. Mutations in the LIG4 gene, which plays a critical role in the repair of DNA double-strand breaks, imply a correlation with malignancies and several cases with leukemia or lymphoma have already been reported. We report here on a case of LIG4 syndrome complicated with distinct EBV-associatecl B-cell lymphoma. (c) 2007 Wiley-Liss, Inc.
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收藏
页码：742 / 745
页数：4
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