Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1–FEV translocation. Issue 7 (25th February 2014)

• Record Type: Journal Article
• Authors: Milione, Massimo; Gasparini, Patrizia; Sozzi, Gabriella; Mazzaferro, Vincenzo; Ferrari, Andrea; Casali, Paolo G; Perrone, Federica; Tamborini, Elena; Pellegrinelli, Alessio; Gherardi, Giorgio; Arrigoni, Gianluigi; Collini, Paola; Testi, Adele; De Paoli, Elena; Aiello, Antonella; Pilotti, Silvana; Pelosi, Giuseppe
• Is Part Of: Histopathology. Volume 64:Issue 7(2014)
• Page Start: 1014
• Page End: 1026
• Publication Date: 2014-02-25
• Subjects: Histology, Pathological -- Periodicals; 611.018
• DOI: 10.1111/his.12350
• Languages: English
• ISSNs: 0309-0167

Abstract

<abstract abstract-type="main" id="his12350-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="his12350-sec-0001" sec-type="section"> <title>Aims</title> <p>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. <italic>EWSR1–FEV</italic> translocation is exceedingly rare in Ewing sarcoma, as <italic>FEV</italic> expression is restricted to prostate, brain and serotonin neuroendocrine cells (NE) and related tumours.</p> </sec> <sec id="his12350-sec-0002" sec-type="section"> <title>Methods and Results</title> <p>Paraffin sections or snap‐frozen material were used in this investigation. Tumours were investigated by means of immunohistochemistry, RT–PCR (<italic>EWSR1–FLI1, EWSR1–ERG</italic> and <italic>EWSR1–FEV</italic> transcripts), FISH analysis (<italic>EWSR1</italic> break‐apart and specific <italic>EWSR1–FEV</italic> translocation) and spectral karyotyping (SKY). Ten ileal neuroendocrine tumours (INET) made up the control group for <italic>EWSR1–FEV</italic> 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 <italic>EWSR1</italic> rearrangement in all cases, with <italic>EWSR1–FLI1</italic> transcripts being detected in all but one tumour showing the uncommon <italic>EWSR1–FEV</italic> rearrangement, with SKY, RT–PCR and FISH confirmation. The mean survival of <italic>EWSR1–FLI1</italic> patients was 14 months, whereas the <italic>EWSR1–FEV</italic> patient was alive after 15 years despite several recurrences controlled by surgery alone. No INET showed <italic>EWSR1</italic> translocation.</p> </sec> <sec id="his12350-sec-0003" sec-type="section"> <title>Conclusions</title> <p>Most primary Ewing sarcomas of the ileum show the common <italic>EWSR1–FLI1</italic> translocation, but <italic>EWSR1–FEV</italic> could be specific for tumours arising in the ileum and showing better prognosis.</p> </sec> </abstract>