Immunohistochemical (IHC) and Cytogenetic Approach for Improving Diagnosis and Therapy of Ewing Sarcoma (ES)/pPNET Arising in the Ileocecal Region

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Introduction: ES/pPNET primary to the ileocecal region (IpPNET) have been rarely reported on and show close similarities in histology and clinical presentation with small round blue cell tumors. The EWS gene is fused to four members of the ETS family.

Aim(s): Little is known about the pathogenesis and clinical implications of IpPNETs, which may be critical to identifying novel molecular markers.

Materials and methods: We collected seven patients with IpPNET with primary ileo-cecal neoplasia. Tumors were characterized by means of RT-PCR (EWS-Fli1, ESW-ERG), FISH (EWS-FEV), and array comparative genomic hybridization (CGH) focusing on recurrent breakpoints by spectral karyotyping (SKY).

Conference: 10th Annual ENETSConcerence (2013)

Presenting Author: MILIONE M

Authors: Milione M, Gasparini P, Pusceddu S, Damato A, Pellegrinelli A,

Keywords: EWS, pPnet, FEV,