Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients.
Julien Masliah-PlanchonDominique LévyDelphine HéronFabienne GiulianoCatherine BadensPaul FréneauxLouise GalmicheJean-Marc GuinebretierreCécile CellierJoshua J WaterfallKhadija Aït-RaïsGaëlle PierronChristophe GlorionIsabelle DesguerreChristine SolerAnne DevilleOlivier DelattreJean MichonFranck BourdeautPublished in: European journal of human genetics : EJHG (2018)
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.
Keyphrases
- dna repair
- end stage renal disease
- young adults
- dna damage response
- ejection fraction
- newly diagnosed
- case report
- chronic kidney disease
- copy number
- squamous cell carcinoma
- early onset
- bone mineral density
- peritoneal dialysis
- dna damage
- body composition
- squamous cell
- drug induced
- patient reported
- amyotrophic lateral sclerosis