An esophageal gastrointestinal stromal tumor in a patient with MEN1-related pancreatic gastrinoma: an unusual association and review of the literature

J Cancer Res Ther. 2014 Apr-Jun;10(2):443-5. doi: 10.4103/0973-1482.136685.

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.

Publication types

  • Case Reports
  • Letter
  • Review

MeSH terms

  • Adult
  • Esophageal Neoplasms / diagnostic imaging*
  • Esophageal Neoplasms / pathology
  • Gastrinoma / diagnostic imaging*
  • Gastrinoma / secondary
  • Gastrointestinal Stromal Tumors / diagnostic imaging*
  • Gastrointestinal Stromal Tumors / pathology
  • Humans
  • Liver Neoplasms / diagnostic imaging*
  • Liver Neoplasms / secondary
  • Male
  • Multiple Endocrine Neoplasia Type 1 / diagnostic imaging*
  • Multiple Endocrine Neoplasia Type 1 / pathology
  • Neoplasms, Second Primary / diagnostic imaging*
  • Neoplasms, Second Primary / pathology
  • Pancreatic Neoplasms / diagnostic imaging*
  • Pancreatic Neoplasms / pathology
  • Proto-Oncogene Proteins / genetics
  • Ultrasonography

Substances

  • MEN1 protein, human
  • Proto-Oncogene Proteins