Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.
Curry, Sarah Ibrahim, Fadi Grehan, David McDermott, Michael Capra, Michael Betts, David O'Sullivan, Maureen
Curry, Sarah
Ibrahim, Fadi
Grehan, David
McDermott, Michael
Capra, Michael
Betts, David
O'Sullivan, Maureen
Advisors
Editors
Other Contributors
Date
2012-02-01T10:24:39Z
Date Submitted
Keywords
Other Subjects
Subject Mesh
Abdominal Neoplasms/*genetics/pathology/therapy
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Carcinoma, Renal Cell/*genetics/pathology/surgery
Child, Preschool
Combined Modality Therapy
Female
Humans
Kidney Neoplasms/*genetics/pathology/surgery
*Mutation
Neoplasms, Second Primary/*genetics/pathology
Radiotherapy, Conformal
Rhabdomyosarcoma, Embryonal/*genetics/pathology/therapy
Tumor Suppressor Protein p53/*genetics
Antineoplastic Combined Chemotherapy Protocols/therapeutic use
Carcinoma, Renal Cell/*genetics/pathology/surgery
Child, Preschool
Combined Modality Therapy
Female
Humans
Kidney Neoplasms/*genetics/pathology/surgery
*Mutation
Neoplasms, Second Primary/*genetics/pathology
Radiotherapy, Conformal
Rhabdomyosarcoma, Embryonal/*genetics/pathology/therapy
Tumor Suppressor Protein p53/*genetics
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
The 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.
Language
eng
ISSN
1093-5266 (Print)
1093-5266 (Linking)
1093-5266 (Linking)
eISSN
ISBN
DOI
10.2350/10-07-0871-CR.1
PMID
21054160