title: An esophageal gastrointestinal stromal tumor in a patient with MEN1-related pancreatic gastrinoma: an unusual association and review of the literature.
abstract: Both multiple endocrine neoplasia type 1 (MEN1)-related gastrinomas and gastrointestinal stromal tumors (GISTs) are rare neoplasms, and their association has been rarely reported. We describe an unusual association between a GIST and a MEN1-related gastrinoma. A 44-year-old man had undergone surgical removal of a pancreatic gastrinoma in 2004 and was then administered long-term somatostatin analogs, and diagnosed as having MEN1 syndrome. Following an uneventful follow-up, in April 2009, an upper gastrointestinal tract endoscopy showed esophageal narrowing, with evidence of a 2-cm solid mass on endoscopic ultrasonography. Histology revealed a tumor composed of elongated cells with plump cytoplasm arranged in a storiform pattern. The immunophenotype of the lesion was CD117 and Platelet Derived Growth Factor (PDGF) positive, whereas alpha-1 muscle actin and S-100 protein were negative. Due to morphological and immunohistochemical results, a final diagnosis of esophageal GIST was made. The association between GISTs and MEN1 could be casual, although a single case of the coexistence of a GIST and a MEN1-related gastrinoma has already been reported. A role of the MEN1 gene in the pathogenesis of GISTs could be hypothesized.
authors.affiliation: Gastroenterology and Endoscopy Unit, Department of Pathophysiology and Transplant, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Massironi
authors.forename: Roberta E
authors.initials: RE
authors.lastname: Rossi
authors.forename: Stefano
authors.initials: S
authors.lastname: Ferrero
authors.forename: Federica
authors.initials: F
authors.lastname: Cavalcoli
authors.forename: Matilde P
authors.initials: MP
authors.lastname: Spampatti
authors.forename: Dario
authors.initials: D
authors.lastname: Conte
authors.forename: Sabrina
authors.initials: S
authors.lastname: Corbetta
authors.forename: Maddalena
authors.initials: M
authors.lastname: Peracchi
mesh_terms: D000328:Adult; D004938:Esophageal Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D015408:Gastrinoma / Q000000981:diagnostic imaging* / Q000556:secondary; D046152:Gastrointestinal Stromal Tumors / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008113:Liver Neoplasms / Q000000981:diagnostic imaging* / Q000556:secondary; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000000981:diagnostic imaging* / Q000473:pathology; D016609:Neoplasms, Second Primary / Q000000981:diagnostic imaging* / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000000981:diagnostic imaging* / Q000473:pathology; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014463:Ultrasonography
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins