Radiation-induced sarcomas are well-known though uncommon potential late sequelae of radiation therapy. We report irradiation-induced osteosarcoma involving the maxilla following treatment of nasopharyngeal carcinoma in a 44-year-old man who presented with painful cheek swelling. Radiographs and computed tomography showed a large destructive lesion of the left maxilla. Diagnosis of osteosarcoma was confirmed by excision biopsy.
Rothmund-Thomson syndrome (OMIM #268400) is a severe autosomal recessive genodermatosis: characterised by growth retardation, hyperpigmentation and frequently accompanied by congenital bone defects, brittle hair and hypogonadism. Mutations in helicase RECQ4 gene are responsible for a subset of cases of RTS. Only six mutations have been reported, thus, far and each affecting the coding sequence or the splice junctions. We report the first homozygous mutation in RECQ4 helicase: 2746-2756-delTGGGCTGAGGC in IVS8 responsible for the severe phenotype associated with RTS in a Malaysian pedigree. We report also a 5321 G-->A transition in exon 17 and the updated list of the RECQ4 gene mutations.