Ewing sarcoma of the small bowel: a study of seven cases, including one with the uncommonly reported EWSR1–FEV translocation
Massimo Milione
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorPatrizia Gasparini
Tumor Genomics Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorGabriella Sozzi
Tumor Genomics Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorVincenzo Mazzaferro
Liver Unit and Hepato-Oncology Group, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAndrea Ferrari
Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorPaolo G Casali
Adult Sarcoma Medical Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorFederica Perrone
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorElena Tamborini
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAlessio Pellegrinelli
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorGiorgio Gherardi
Division of Anatomic Pathology and Cytopathology, ‘Fatebenefratelli e Oftamico’ Hospital, Milan, Italy
Search for more papers by this authorGianluigi Arrigoni
Division of Anatomic Pathology, ‘San Raffaele’ Hospital, Milan, Italy
Search for more papers by this authorPaola Collini
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAdele Testi
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorElena De Paoli
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAntonella Aiello
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorSilvana Pilotti
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorCorresponding Author
Giuseppe Pelosi
Department of Biomedical and Clinical Sciences ‘Luigi Sacco’, Università degli Studi, Milan, Italy
Address for correspondence: G Pelosi, MD, MIAC, Dipartimento di Patologia Diagnostica e Laboratorio, Fondazione IRCCS Istituto Nazionale dei Tumori e Università degli Studi, Via G. Venezian, 1 I-20133 Milan, Italy. e-mail: [email protected]Search for more papers by this authorMassimo Milione
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorPatrizia Gasparini
Tumor Genomics Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorGabriella Sozzi
Tumor Genomics Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorVincenzo Mazzaferro
Liver Unit and Hepato-Oncology Group, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAndrea Ferrari
Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorPaolo G Casali
Adult Sarcoma Medical Oncology Unit, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorFederica Perrone
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorElena Tamborini
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAlessio Pellegrinelli
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorGiorgio Gherardi
Division of Anatomic Pathology and Cytopathology, ‘Fatebenefratelli e Oftamico’ Hospital, Milan, Italy
Search for more papers by this authorGianluigi Arrigoni
Division of Anatomic Pathology, ‘San Raffaele’ Hospital, Milan, Italy
Search for more papers by this authorPaola Collini
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAdele Testi
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorElena De Paoli
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorAntonella Aiello
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorSilvana Pilotti
Department of Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy
Search for more papers by this authorCorresponding Author
Giuseppe Pelosi
Department of Biomedical and Clinical Sciences ‘Luigi Sacco’, Università degli Studi, Milan, Italy
Address for correspondence: G Pelosi, MD, MIAC, Dipartimento di Patologia Diagnostica e Laboratorio, Fondazione IRCCS Istituto Nazionale dei Tumori e Università degli Studi, Via G. Venezian, 1 I-20133 Milan, Italy. e-mail: [email protected]Search for more papers by this authorAbstract
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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