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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