Gastrointestinal stromal tumors with KIT mutations exhibit a remarkably homogeneous gene expression profile

Susanne V. Allander, Nina N. Nupponen, Markus Ringnér, Galen Hostetter, Greg W. Maher, Natalie Goldberger, Yidong Chen, John Carpten, Abdel G. Elkahloun, Paul S. Meltzer

Research output: Contribution to journalArticlepeer-review

181 Scopus citations


Gastrointestinal stromal tumors (GISTs), the most common mesenchymal tumors of the digestive tract, are believed to arise from the interstitial cells of Cajal. GISTs are characterized by mutations in the proto-oncogene KIT that lead to constitutive activation of its tyrosine kinase activity. The tyrosine kinase inhibitor STI571, active against the BCR-ABL fusion protein in chronic myeloid leukemia, was recently shown to be highly effective in GISTs. We used 13, 826-element cDNA microarrays to define the expression patterns of 13 KIT mutation·positive GISTs and compared them with the expression profiles of a group of spindle cell tumors from locations outside the gastrointestinal tract. Our results showed a remarkably distinct and uniform expression profile for all of the GISTs. In particular, hierarchical clustering of a subset of 113 cDNAs placed all of the GIST samples into one branch, with a Pearson correlation >0.91. This homogeneity suggests that the molecular pathogenesis of a GIST results from expansion of a clone that has acquired an activating mutation in KIT without the extreme genetic instability found in the common epithelial cancers. The results provide insight into the histogenesis of GIST and the clinical behavior of this therapeutically responsive tumor.

Original languageEnglish (US)
Pages (from-to)8624-8628
Number of pages5
JournalCancer Research
Issue number24
StatePublished - Dec 15 2001
Externally publishedYes

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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