Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

Eur J Hum Genet. 2018 Aug;26(8):1217-1221. doi: 10.1038/s41431-018-0147-x. Epub 2018 Apr 30.

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.

Publication types

  • Case Reports

MeSH terms

  • Bone Neoplasms / epidemiology
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Child
  • Female
  • Germ-Line Mutation*
  • Humans
  • Male
  • Mental Retardation, X-Linked / complications
  • Mental Retardation, X-Linked / genetics*
  • Mental Retardation, X-Linked / pathology
  • Osteosarcoma / epidemiology
  • Osteosarcoma / genetics*
  • Osteosarcoma / pathology
  • Pedigree
  • X-linked Nuclear Protein / genetics
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / pathology

Substances

  • ATRX protein, human
  • X-linked Nuclear Protein

Supplementary concepts

  • ATR-X syndrome