Diagnosis of gastrointestinal stromal tumors from minute specimens: Cytomorphology, immunohistochemistry, and molecular diagnostic findings
Article first published online: 20 FEB 2012
Copyright © 2012 Wiley Periodicals, Inc.
Special Issue: Symposium Issue
Volume 40, Issue 6, pages 484–490, June 2012
How to Cite
Layfield, L. J., Wallander, M. L. (2012), Diagnosis of gastrointestinal stromal tumors from minute specimens: Cytomorphology, immunohistochemistry, and molecular diagnostic findings. Diagn. Cytopathol., 40: 484–490. doi: 10.1002/dc.22838
- Issue published online: 22 MAY 2012
- Article first published online: 20 FEB 2012
- Manuscript Accepted: 13 DEC 2011
- Manuscript Received: 13 OCT 2011
- gastrointestinal stromal tumor;
- fine-needle aspiration;
- mutational analysis;
- activating mutation
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal neoplasm arising from the gastrointestinal tract. Workup of these lesions includes morphologic study and immunohistochemical and often molecular diagnostic analysis. Historically, these neoplasms had been included under a number of diagnostic categories including leiomyoma, leiomyosarcoma, schwannoma, and leiomyoblastoma. The lesions that were clearly sarcomatous were difficult to treat and therapeutically refractory to chemotherapeutic agents. Significant progress in our understanding of these neoplasms and our ability to successfully treat them occurred following the discovery that they were immunoreactive for KIT protein and harbored activating mutations in the KIT gene. Many are initially diagnosed by fine-needle aspiration (FNA) but workup may include mutational analysis to help direct therapy. This review outlines a practical approach to the cytologic diagnosis of GISTs and their molecular workup on small specimens obtained by FNA or core biopsy. Diagn. Cytopathol. 2012;40:484–490. © 2012 Wiley Periodicals, Inc.