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Am J Med Genet A. 2010 Jun;152A(6):1575-9. doi: 10.1002/ajmg.a.33427.

Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.

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Department of Pediatric Oncology and Hematology, Children's Hospital, University of Cologne, Cologne, Germany.


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.

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