Aims: Primary Ewing sarcoma of the ileum has rarely been documented. Little is known about its pathogenesis and clinical implications, and it would be helpful to identify novel molecular markers. EWSR1-FEV translocation is exceedingly rare in Ewing sarcoma, as FEV expression is restricted to prostate, brain and serotonin neuroendocrine cells (NE) and related tumours. Methods and Results: Paraffin sections or snap-frozen material were used in this investigation. Tumours were investigated by means of immunohistochemistry, RT-PCR (EWSR1-FLI1, EWSR1-ERG and EWSR1-FEV transcripts), FISH analysis (EWSR1 break-apart and specific EWSR1-FEV translocation) and spectral karyotyping (SKY). Ten ileal neuroendocrine tumours (INET) made up the control group for EWSR1-FEV translocation. Among 445 Ewing sarcomas cases spanning a period of 20 years, seven (1.6%) arose in the ileum. All tumours were immunoreactive for synaptophysin, CD99, FLI1 and vimentin. FISH identified EWSR1 rearrangement in all cases, with EWSR1-FLI1 transcripts being detected in all but one tumour showing the uncommon EWSR1-FEV rearrangement, with SKY, RT-PCR and FISH confirmation. The mean survival of EWSR1-FLI1 patients was 14 months, whereas the EWSR1-FEV patient was alive after 15 years despite several recurrences controlled by surgery alone. No INET showed EWSR1 translocation. Conclusions: Most primary Ewing sarcomas of the ileum show the common EWSR1-FLI1 translocation, but EWSR1-FEV could be specific for tumours arising in the ileum and showing better prognosis.
Ewing sarcoma of the small bowel : a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation / M. Milione, P. Gasparini, G. Sozzi, V. Mazzaferro, A. Ferrari, P.G. Casali, F. Perrone, E. Tamborini, A. Pellegrinelli, G. Gherardi, G. Arrigoni, P. Collini, A.Testi, E. De Paoli, A. Aiello, S. Pilotti, G. Pelosi. - In: HISTOPATHOLOGY. - ISSN 0309-0167. - 64:7(2014 Jun), pp. 1014-1026.
|Titolo:||Ewing sarcoma of the small bowel : a study of seven cases, including one with the uncommonly reported EWSR1-FEV translocation|
|Parole Chiave:||cytogenetic assay; Ewing sarcoma; EWSR1–FEV fusion gene; EWSR1–FLI1 fusion gene; fluorescence in-situ hybridization; gastrointestinal stromal tum our; ileum; immunohistochemistry; neuroectodermal; neuroendocrine; reverse transcriptase–polymerase chain reaction|
|Settore Scientifico Disciplinare:||Settore MED/18 - Chirurgia Generale|
|Data di pubblicazione:||giu-2014|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1111/his.12350|
|Appare nelle tipologie:||01 - Articolo su periodico|