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Primary primitive neuroectodermal tumour of the urinary bladder: a clinico-pathological study emphasising immunohistochemical, ultrastructural and molecular analyses
  1. A Lopez-Beltran1,
  2. C Pérez-Seoane1,
  3. R Montironi2,
  4. T Hernández-Iglesias3,
  5. C Mackintosh3,
  6. E de Alava3
  1. 1Department of Pathology, Reina Sofia University Hospital, Cordoba, Spain
  2. 2Institute of Pathological Anatomy and Histopathology, Polytechnic University of the Marche Region, Ancona, Italy
  3. 3Molecular Pathology Laboratory, Centro de Investigación del Cáncer-IBMCC, University of Salamanca-CSIC, Salamanca, Spain
  1. Correspondence to:
 A Lopez-Beltran
 Faculty of Medicine, Avda. Menendez Pidal S/N, 14004 Córdoba, Spain; em1lobea{at}uco.es

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.

  • CGH, comparative genomic hybridisation
  • PNET, primitive neuroectodermal tumour

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Footnotes

  • Competing interests: None.

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