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Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation
Author(s) -
Khayat Catherine M.,
Johnston Donna L.
Publication year - 2004
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.20142
Subject(s) - adrenocortical carcinoma , medicine , rhabdomyosarcoma , li–fraumeni syndrome , malignancy , germline , germline mutation , osteosarcoma , mutation , sarcoma , cancer , cancer research , oncology , pathology , genetics , biology , gene
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. © 2004 Wiley‐Liss, Inc.