Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.
AffiliationDepartment of Oncology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Carcinoma, Renal Cell/*genetics/pathology/surgery
Combined Modality Therapy
Neoplasms, Second Primary/*genetics/pathology
Tumor Suppressor Protein p53/*genetics
MetadataShow full item record
CitationPediatr Dev Pathol. 2011 May-Jun;14(3):248-51. Epub 2010 Nov 5.
JournalPediatric and developmental pathology : the official journal of the Society for, Pediatric Pathology and the Paediatric Pathology Society
AbstractThe 2004 World Health Organization classification includes the new entity "neuroblastoma-associated renal cell carcinoma." The pathogenetic link between these entities is unknown as yet. The patient reported herein developed renal cell carcinoma after anaplastic embryonal rhabdomyosarcoma, a previously unknown association. The 2nd malignancy developed very soon after the 1st one, prompting concern for inherent cancer predisposition rather than a therapy-induced 2nd malignancy. A variety of features raised suspicion for Tp53 mutation, and indeed a pathogenic germline Tp53 mutation was identified in this child, despite a negative family history for Li-Fraumeni syndrome. Consideration of underlying predisposition is advocated in the context of rapid evolution of 2nd childhood malignancy.
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