Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.
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.
Department of Oncology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Sarah
S
Curry
Fadi
F
Ibrahim
David
D
Grehan
Michael
M
McDermott
Michael
M
Capra
David
D
Betts
Maureen
M
O'Sullivan
D000008:Abdominal Neoplasms / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002292:Carcinoma, Renal Cell / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D007680:Kidney Neoplasms / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009154:Mutation; D016609:Neoplasms, Second Primary / Q000235:genetics* / Q000473:pathology; D020266:Radiotherapy, Conformal; D018233:Rhabdomyosarcoma, Embryonal / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53