Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation.
A child with an unusual association of cancers is described. The patient first presented with a rhabdomyosarcoma of the right scapular muscle, and was successfully treated with chemotherapy. Six years after diagnosis of the first malignancy, the child presented with two synchronous malignancies: osteosarcoma of the jaw and adrenocortical carcinoma. Genetic mutation analysis was performed and revealed a germline p53 mutation of CGT > CAT at codon 273. The family history was negative for any other cancer consistent with the Li-Fraumeni syndrome. This case highlights the need for close surveillance of patients with p53 mutation for malignancy and describes the occurrence of two malignancies synchronously.
Khayat
Catherine M
CM
Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Johnston
Donna L
DL
D000306:Adrenal Cortex Neoplasms / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D002648:Child; D005500:Follow-Up Studies; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D012516:Osteosarcoma / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D012208:Rhabdomyosarcoma / Q000150:complications / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D015898:Tomography Scanners, X-Ray Computed; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
D016159:Tumor Suppressor Protein p53