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Epstein–Barr virus‐associated B‐cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome
Author(s) -
Toita Nariaki,
Hatano Norikazu,
Ono Satoru,
Yamada Masafumi,
Kobayashi Ryoji,
Kobayashi Ichiro,
Kawamura Nobuaki,
Okano Motohiko,
Satoh Akira,
Nakagawa Atsuko,
Ohshima Koichi,
Shindoh Masanobu,
Takami Tsuyoshi,
Kobayashi Kunihiko,
Ariga Tadashi
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31644
Subject(s) - dna ligase , lymphoma , cancer research , mutation , gene , gene mutation , dna , virology , medicine , biology , genetics , immunology
Abstract 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. She 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‐associated B‐cell lymphoma. © 2007 Wiley‐Liss, Inc.