| Literature DB >> 29706636 |
Julien Masliah-Planchon1,2, Dominique Lévy3, Delphine Héron4, Fabienne Giuliano5, Catherine Badens6, Paul Fréneaux7, Louise Galmiche8, Jean-Marc Guinebretierre7, Cécile Cellier9, Joshua J Waterfall2,10, Khadija Aït-Raïs1, Gaëlle Pierron1, Christophe Glorion11, Isabelle Desguerre12, Christine Soler13, Anne Deville13, Olivier Delattre1,2, Jean Michon3, Franck Bourdeaut14,15.
Abstract
Osteosarcoma is the most common malignant bone tumor in adolescents and young adults. Most osteosarcomas are sporadic but the risk of osteosarcoma is also increased by germline variants in TP53, RB1 and RECQL4 genes. ATRX germline variations are responsible for the rare genetic disorder X-linked alpha-thalassemia mental retardation (ATR-X) syndrome characterized by severe developmental delay and alpha-thalassemia but no obvious increased risk of cancer. Here we report two children with ATR-X syndrome who developed osteosarcoma. Notably, one of the children developed two osteosarcomas separated by 10 years. Those two cases raise the possibility that ATRX germline variant could be associated with an increased risk of osteosarcoma.Entities:
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Year: 2018 PMID： 29706636 PMCID： PMC6057977 DOI： 10.1038/s41431-018-0147-x
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246