Key result
The rare EWSR1-FEV translocation in primary Ewing sarcoma of the ileum was associated with survival of over 15 years, compared to a mean survival of 14 months for patients with EWSR1-FLI1.
Observational (n=7)
The rare EWSR1-FEV translocation may be specific to Ewing sarcomas arising in the ileum and could be associated with a better prognosis compared to the common EWSR1-FLI1 translocation.
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Hypothesis-generating for better prognosis with EWSR1-FEV in ileal Ewing sarcoma; leaves open whether it alters management.
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.
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Milione et al. (2013) conducted an observational in Primary Ewing sarcoma of the ileum (n=7). EWSR1-FEV translocation vs. EWSR1-FLI1 translocation was evaluated on Survival. The rare EWSR1-FEV translocation in primary Ewing sarcoma of the ileum was associated with survival of over 15 years, compared to a mean survival of 14 months for patients with EWSR1-FLI1.
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