Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.
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.
Toita
Nariaki
N
Department of Pediatrics, Graduate School of Medicine, Hokkaido University, Sapporo, Japan. toita@med.hokudai.ac.jp
Hatano
Norikazu
N
Ono
Satoru
S
Yamada
Masafumi
M
Kobayashi
Ryoji
R
Kobayashi
Ichiro
I
Kawamura
Nobuaki
N
Okano
Motohiko
M
Satoh
Akira
A
Nakagawa
Atsuko
A
Ohshima
Koichi
K
Shindoh
Masanobu
M
Takami
Tsuyoshi
T
Kobayashi
Kunihiko
K
Ariga
Tadashi
T
D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency / Q000235:genetics*; D020031:Epstein-Barr Virus Infections / Q000473:pathology* / Q000821:virology; D005260:Female; D004854:Herpesvirus 4, Human; D006801:Humans; D016393:Lymphoma, B-Cell / Q000473:pathology* / Q000821:virology; D017384:Sequence Deletion; D013577:Syndrome
C000607893:LIG4 protein, human; D011088:DNA Ligases; D000072481:DNA Ligase ATP