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Title

Primary primitive neuroectodermal tumour of the urinary bladder: a clinico-pathological study emphasising immunohistochemical, ultrastructural and molecular analyses

AuthorsLópez-Beltran, A.; Hernández, M. Teresa ; Mackintosh, Carlos ; Álava, Enrique de
Issue Date2006
PublisherBMJ Publishing Group
CitationJournal of Clinical Pathology 59(7): 775-778 (2006)
AbstractPrimary primitive neuroectodermal tumours (PNETs) of the bladder are extremely rare and aggressive neoplasms, and only six examples have been reported in the literature. The case of a 21-year-old woman, who remains disease free 3 years after tumour resection, is reported here. Morphological features were found to correspond to a small round blue cell tumour without rosette formation and with extensive areas of necrosis. Strong expression of CD99, vimentin and CD117 (c-kit), and focal reactivity to cytokeratin and S-100 protein was observed in tumour cells. Ultrastructurally, sparse neurosecretory granules were observed. Diagnosis of PNET was supported by molecular genetic analysis, showing the EWS-FLI-1 fusion transcript type 2 by RT-PCR and EWS gene rearrangement by fluorescence in situ hybridisation. A normal genetically balanced genotype was shown by comparative genomic hybridisation, which, together with the expression of c-kit, a known therapeutic target for imatinib, may have prognostic and therapeutic implications.
URIhttp://hdl.handle.net/10261/62665
DOI10.1136/jcp.2005.029199
Identifiersdoi: 10.1136/jcp.2005.029199
issn: 0021-9746
e-issn: 1472-4146
Appears in Collections:(IBMCC) Artículos
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