Gastrointestinal stromal tumors (GISTs) are neoplasms arising from mesenchymal cells localized into the muscularis propria of the gastrointestinal (GI) tract [1]; 5% of GISTs are extra-GISTs (EGISTs), as they differently originate from adipose tissue adjacent to the GI tract (omentum and mesentery) or from the pancreas [2]. So far, both GISTs and EGISTs have been managed indistinctively by combining surgery, histopathological distinctive features, imaging, and molecular analysis. Moreover, despite the contribution of defined genetic backgrounds whose influence is acknowledged in this type of tumor (i.e. Carney’s triad or familiar form of GIST), the pathobiology of both GISTs and EGISTs is not yet fully understood. We describe an interesting case of an extensively diffuse EGIST involving only omentum and mesocolon with multinodular growth and peculiar histological features, and for which a deeper histopathological/ molecular analysis is reported. Case presentation A 74-year-old female with a historical diagnosis of multiple myeloma was referred for anemia, alvus disorders (diarrhea and constipation), weight loss (15 kg in 6 months), and palpable mass of the right flank that had appeared 8 weeks before. On medication for multiple myeloma since 2016 (melphalan combined with prednisone and bortezomib9; carfilzomib/lenalidomide/ desametasone6 until complete remission), she also had type II diabetes, treated with oral medications and open cholecystectomy in the 1980s. Physical examination revealed the presence of a large mobile non-painful mass in the right flank apparently from the right colon, without signs of occlusion or intestinal bleeding. Blood analysis showed: hemoglobin 7.9 g/dL, white blood cells 2.3103/lL, glycemia 191 mg/dL, and a low potassium level of 2.8 mEq/L. We first treated the glycemia by insulin infusion and, second, we investigated the signs of anemia. By lower GI Submitted: 14 May 2020; Revised: 20 July 2020; Accepted: 28 July 2020

A rare case of omental extra-gastrointestinal stromal tumor showing two coexisting mutations on exon 14 of the PDGFRA gene / Caruso, Gianluca; Pacini, Luca; Iossa, Angelo; Di Cristofano, Claudio; Bastianelli, Daniela; Silecchia, Gianfranco; Mele, Maria; Petrozza, Vincenzo; Calogero, Antonella; De Falco, Elena. - In: GASTROENTEROLOGY REPORT. - ISSN 2052-0034. - 9:4(2021), pp. 377-379. [10.1093/gastro/goaa086]

A rare case of omental extra-gastrointestinal stromal tumor showing two coexisting mutations on exon 14 of the PDGFRA gene

Caruso, Gianluca
Conceptualization
;
Pacini, Luca
Conceptualization
;
Iossa, Angelo
Membro del Collaboration Group
;
Di Cristofano, Claudio
Methodology
;
Bastianelli, Daniela
Membro del Collaboration Group
;
Silecchia, Gianfranco
Methodology
;
Petrozza, Vincenzo
Validation
;
Calogero, Antonella
Supervision
;
De Falco, Elena
Writing – Original Draft Preparation
2021

Abstract

Gastrointestinal stromal tumors (GISTs) are neoplasms arising from mesenchymal cells localized into the muscularis propria of the gastrointestinal (GI) tract [1]; 5% of GISTs are extra-GISTs (EGISTs), as they differently originate from adipose tissue adjacent to the GI tract (omentum and mesentery) or from the pancreas [2]. So far, both GISTs and EGISTs have been managed indistinctively by combining surgery, histopathological distinctive features, imaging, and molecular analysis. Moreover, despite the contribution of defined genetic backgrounds whose influence is acknowledged in this type of tumor (i.e. Carney’s triad or familiar form of GIST), the pathobiology of both GISTs and EGISTs is not yet fully understood. We describe an interesting case of an extensively diffuse EGIST involving only omentum and mesocolon with multinodular growth and peculiar histological features, and for which a deeper histopathological/ molecular analysis is reported. Case presentation A 74-year-old female with a historical diagnosis of multiple myeloma was referred for anemia, alvus disorders (diarrhea and constipation), weight loss (15 kg in 6 months), and palpable mass of the right flank that had appeared 8 weeks before. On medication for multiple myeloma since 2016 (melphalan combined with prednisone and bortezomib9; carfilzomib/lenalidomide/ desametasone6 until complete remission), she also had type II diabetes, treated with oral medications and open cholecystectomy in the 1980s. Physical examination revealed the presence of a large mobile non-painful mass in the right flank apparently from the right colon, without signs of occlusion or intestinal bleeding. Blood analysis showed: hemoglobin 7.9 g/dL, white blood cells 2.3103/lL, glycemia 191 mg/dL, and a low potassium level of 2.8 mEq/L. We first treated the glycemia by insulin infusion and, second, we investigated the signs of anemia. By lower GI Submitted: 14 May 2020; Revised: 20 July 2020; Accepted: 28 July 2020
2021
mutation; exons; genes; omentum; platelet-derived growth factor alpha receptor; stromal neoplasm; histopathology tests
01 Pubblicazione su rivista::01i Case report
A rare case of omental extra-gastrointestinal stromal tumor showing two coexisting mutations on exon 14 of the PDGFRA gene / Caruso, Gianluca; Pacini, Luca; Iossa, Angelo; Di Cristofano, Claudio; Bastianelli, Daniela; Silecchia, Gianfranco; Mele, Maria; Petrozza, Vincenzo; Calogero, Antonella; De Falco, Elena. - In: GASTROENTEROLOGY REPORT. - ISSN 2052-0034. - 9:4(2021), pp. 377-379. [10.1093/gastro/goaa086]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1468457
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