Immunohistochemical spectrum of GISTs at different sites and their differential diagnosis with a reference to CD117 (KIT)

Mod Pathol. 2000 Oct;13(10):1134-42. doi: 10.1038/modpathol.3880210.

Abstract

Gastrointestinal (GI) stromal tumor (GIST) is the designation for the major subset of GI mesenchymal tumors and encompasses most tumors previously classified as GI smooth muscle tumors. Although GISTs typically express CD117 (KIT), often express CD34, and sometimes express alpha-smooth muscle actin (SMA), the relative frequency of these markers has not been characterized in large series of GISTs of different sites, and the CD117 expression has not been fully characterized in intra-abdominal tumors. In this study, we immunohistochemically analyzed 292 GISTs throughout the GI tract, including omentum and mesentery, and compared the immunoreactivities with 211 other tumors that may enter in the differential diagnosis. GISTs were defined in this study as CD117-positive primary spindied or epithelioid mesenchymal tumors of the GI tract, omentum, or mesentery. The CD34 positivity of GISTs varied from 47% in small bowel to 96 to 100% in rectum and esophagus, whereas SMA expression showed the opposite patterns and was most frequent in the GISTs of small bowel (47%) and rarest in the GISTs of rectum and esophagus (10-13%). Desmin was seen only occasionally. S100 positivity was rare but was seen most frequently in small intestinal GISTs (15%). True leiomyomas from esophagus, muscularis mucosae of colorectum, and pericolic leiomyomas similar to uterine leiomyomas were negative for CD117 and CD34 and positive for SMA and desmin (46 of 46). Inflammatory fibroid polyps of stomach and small intestine were negative for CD117 but were often positive for CD34 (6 of 8) and variable for SMA (3 of 8). Inflammatory myofibroblastic tumors involving gastric or colonic wall were negative for CD117 but some showed CD117-positive endothelia. GI schwannomas were all negative for CD117 and positive for S100 protein (11 of 11). Extremely focal CD117 positivity was seen in the neoplastic cells of some retroperitoneal leiomyosarcomas and liposarcomas. Among other CD117-positive tumors were intestinal metastatic melanomas (8 of 11) and extraskeletal Ewing's sarcomas (5 of 11), two of which were abdominal. In conclusion, strong CD117 expression defines most primary GI mesenchymal tumors as GISTs, which show different patterns for CD34 and SMA in various parts of the GI tract. Some unrelated CD117-positive tumors (melanomas, Ewing's sarcomas) should not be confused with GISTs.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / analysis
  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antigens, CD34 / analysis
  • Biomarkers, Tumor / analysis
  • Diagnosis, Differential
  • Female
  • Gastrointestinal Neoplasms / chemistry
  • Gastrointestinal Neoplasms / diagnosis*
  • Humans
  • Immunoenzyme Techniques
  • Leiomyoma / chemistry
  • Leiomyoma / diagnosis*
  • Leiomyosarcoma / chemistry
  • Leiomyosarcoma / diagnosis*
  • Male
  • Middle Aged
  • Neoplasm Proteins / analysis
  • Proto-Oncogene Proteins c-kit / analysis*
  • S100 Proteins / analysis
  • Stromal Cells / chemistry
  • Stromal Cells / pathology*

Substances

  • Actins
  • Antigens, CD34
  • Biomarkers, Tumor
  • Neoplasm Proteins
  • S100 Proteins
  • Proto-Oncogene Proteins c-kit