Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation

Pediatric Blood & Cancer
Catherine M Khayat, Donna L Johnston

Abstract

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.

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Citations

Nov 12, 2005·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Funda CorapçíoğluDeniz Uren
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Feb 22, 2012·The American Journal of Surgical Pathology·Khin ThwayCyril Fisher

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