title: Primary primitive neuroectodermal tumour of the urinary bladder: a clinico-pathological study emphasising immunohistochemical, ultrastructural and molecular analyses.
abstract: Primary 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.
authors.affiliation: Department of Pathology, Reina Sofia University Hospital, Cordoba, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Lopez-Beltran
authors.forename: C
authors.initials: C
authors.lastname: Pérez-Seoane
authors.forename: R
authors.initials: R
authors.lastname: Montironi
authors.forename: T
authors.initials: T
authors.lastname: Hernández-Iglesias
authors.forename: C
authors.initials: C
authors.lastname: Mackintosh
authors.forename: E
authors.initials: E
authors.lastname: de Alava
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D009363:Neoplasm Proteins / Q000378:metabolism; D018242:Neuroectodermal Tumors, Primitive / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics; D034802:RNA-Binding Protein EWS; D001749:Urinary Bladder Neoplasms / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: C106031:EWS-FLI fusion protein; D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; D051789:Proto-Oncogene Protein c-fli-1; D034802:RNA-Binding Protein EWS