Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types

Am J Surg Pathol. 2010 May;34(5):636-44. doi: 10.1097/PAS.0b013e3181d6150d.

Abstract

The Carney triad (CT) is gastrointestinal stromal tumor (GIST), paraganglioma, and pulmonary chondroma. The GISTs of CT show different clinical, molecular, and morphologic features to usual adult GISTs but are similar to the majority of pediatric GISTs. We postulated that these GISTs would show negative staining for succinate dehydrogenase B (SDHB). We performed SDHB immunohistochemistry on GISTs arising in 5 individuals with CT, 1 child, 7 individuals with GIST in young adulthood including 2 with germline KIT mutations, 3 individuals with neurofibromatosis 1, one 63-year-old female with multifocal gastric epithelioid GIST with lymph node metastases, and 104 consecutive unselected individuals with apparently sporadic GIST. The GISTs and paragangliomas arising in CT, the pediatric GIST, and the multifocal gastric GIST from the 63-year-old showed negative SDHB staining. GISTs from the 7 young adults and 3 with neurofibromatosis were SDHB positive. Of the unselected GISTs, 101 (97%) were positive. One of the negative GISTs arose in a 48-year-old female with previous recurrent multifocal gastric GISTs and the other 2 arose in females also in their 40s with gastric GISTs with epithelioid morphology. We conclude that negative staining for SDHB is characteristic of the GISTs of CT and the subgroup of pediatric GISTs which it resembles. Furthermore, when negative staining occurs in apparently sporadic GISTs in adults, the GISTs show morphologic and clinical features similar to pediatric and CT type GISTs. GISTs may therefore be divided into type 1 (SDHB positive) and type 2 (SDHB negative) subtypes.

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers, Tumor / metabolism
  • Chondroma / genetics
  • Chondroma / metabolism
  • Chondroma / pathology
  • Female
  • Gastrointestinal Stromal Tumors / diagnosis*
  • Gastrointestinal Stromal Tumors / genetics
  • Gastrointestinal Stromal Tumors / metabolism
  • Germ-Line Mutation
  • Humans
  • Immunohistochemistry / methods*
  • Lung Neoplasms / genetics
  • Lung Neoplasms / metabolism
  • Lung Neoplasms / pathology
  • Lymph Nodes / pathology
  • Lymphatic Metastasis
  • Male
  • Middle Aged
  • Neoplastic Syndromes, Hereditary / genetics
  • Neoplastic Syndromes, Hereditary / metabolism
  • Neoplastic Syndromes, Hereditary / pathology
  • Neurofibromatosis 1 / metabolism
  • Neurofibromatosis 1 / pathology
  • Paraganglioma / genetics
  • Paraganglioma / metabolism
  • Paraganglioma / pathology
  • Succinate Dehydrogenase / metabolism*
  • Young Adult

Substances

  • Biomarkers, Tumor
  • SDHB protein, human
  • Succinate Dehydrogenase