Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.

Hdl Handle:
http://hdl.handle.net/10147/207424
Title:
Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.
Authors:
Curry, Sarah; Ibrahim, Fadi; Grehan, David; McDermott, Michael; Capra, Michael; Betts, David; O'Sullivan, Maureen
Affiliation:
Department of Oncology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.
Citation:
Pediatr Dev Pathol. 2011 May-Jun;14(3):248-51. Epub 2010 Nov 5.
Journal:
Pediatric and developmental pathology : the official journal of the Society for, Pediatric Pathology and the Paediatric Pathology Society
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207424
DOI:
10.2350/10-07-0871-CR.1
PubMed ID:
21054160
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
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
ISSN:
1093-5266 (Print); 1093-5266 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorCurry, Sarahen_GB
dc.contributor.authorIbrahim, Fadien_GB
dc.contributor.authorGrehan, Daviden_GB
dc.contributor.authorMcDermott, Michaelen_GB
dc.contributor.authorCapra, Michaelen_GB
dc.contributor.authorBetts, Daviden_GB
dc.contributor.authorO'Sullivan, Maureenen_GB
dc.date.accessioned2012-02-01T10:24:39Z-
dc.date.available2012-02-01T10:24:39Z-
dc.date.issued2012-02-01T10:24:39Z-
dc.identifier.citationPediatr Dev Pathol. 2011 May-Jun;14(3):248-51. Epub 2010 Nov 5.en_GB
dc.identifier.issn1093-5266 (Print)en_GB
dc.identifier.issn1093-5266 (Linking)en_GB
dc.identifier.pmid21054160en_GB
dc.identifier.doi10.2350/10-07-0871-CR.1en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207424-
dc.description.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.en_GB
dc.language.isoengen_GB
dc.subject.meshAbdominal Neoplasms/*genetics/pathology/therapyen_GB
dc.subject.meshAntineoplastic Combined Chemotherapy Protocols/therapeutic useen_GB
dc.subject.meshCarcinoma, Renal Cell/*genetics/pathology/surgeryen_GB
dc.subject.meshChild, Preschoolen_GB
dc.subject.meshCombined Modality Therapyen_GB
dc.subject.meshFemaleen_GB
dc.subject.meshHumansen_GB
dc.subject.meshKidney Neoplasms/*genetics/pathology/surgeryen_GB
dc.subject.mesh*Mutationen_GB
dc.subject.meshNeoplasms, Second Primary/*genetics/pathologyen_GB
dc.subject.meshRadiotherapy, Conformalen_GB
dc.subject.meshRhabdomyosarcoma, Embryonal/*genetics/pathology/therapyen_GB
dc.subject.meshTumor Suppressor Protein p53/*geneticsen_GB
dc.titleRhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation.en_GB
dc.contributor.departmentDepartment of Oncology, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.en_GB
dc.identifier.journalPediatric and developmental pathology : the official journal of the Society for, Pediatric Pathology and the Paediatric Pathology Societyen_GB
dc.description.provinceLeinster-

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