Premium
Multiple malignant diseases in a patient with Rothmund–Thomson syndrome with RECQL4 mutations: Case report and literature review
Author(s) -
Simon T.,
Kohlhase J.,
Wilhelm C.,
Kochanek M.,
De Carolis B.,
Berthold F.
Publication year - 2010
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.33427
Subject(s) - mutation , exon , medicine , lymphoma , cancer research , loss of heterozygosity , gene , genetics , pathology , biology , allele
RECQL4 mutations cause genetic instability and increase the risk of malignant disease. We report on a patient with compound heterozygosity for two novel RECQL4 mutations: mutation c.1919_1924delTCACAG, p.L640_A642delinsP in exon 12 of the RECQL4 gene and mutation c.1704+1G>A in intron 10 of the RECQL4 gene. He subsequently developed large cell anaplastic T cell lymphoma at the age of 9 years, diffuse large cell B lymphoma and osteosarcoma when he was 14 years old, and finally acute lymphatic leukemia when he was 21 years old. The most remarkable clinical features are young age, spontaneous remission of diffuse large cell lymphoma, and severe CNS and skin toxicity of cytotoxic treatment. © 2010 Wiley‐Liss, Inc.