Mutation Testing

Mutational analysis of confirmed gastrointestinal stromal tumor (GIST) may be needed to confirm an uncertain diagnosis, to choose the appropriate drug dose, to give additional prognostic information, or to predict response to a specific drug.  For an explanation of mutations in GIST, see our page Mutation Analysis: KIT and PDGFRA.

The 2007 National Comprehensive Care Network "NCCN Task Force Report: Optimal Management of Patients with GIST -- Update of the NCCN Clinical Practice Guidelines" document cites the desirability of obtaining mutation testing.  It is most important for:

• GISTs originating from the small intestine which may need a higher dose of imatinib (Gleevec) if the mutation is in exon 9 of the KIT gene
• GISTs that are negative for expression of KIT protein by immunohistochemistry (KIT-negative)
• high-risk group GISTs
• overtly malignant GISTs that show signs of invasion or metastasis at initial surgery.

The following pathology labs are expert in diagnosing GIST and are able to perform mutation testing (mutational analysis).

United States

• Armed Forces Institute of Pathology, Washington, DC -- for military patients only
  (contact: Markuu Miettinen, MD PhD)
• ARUP Laboratories, Salt Lake City, Utah (www.aruplab.com )
• Fox-Chase Cancer Center, Philadelphia, PA
  (contact Betsy Bove, PhD  Betsy.Bove@fccc.edu)
• Heinrich-Corless Laboratories, Portland, Oregon (www.heinrich-corless.net)
  (contact: Sally J. Ison, Administrative Assistant, isons@ohsu.edu )
• M.D. Anderson Cancer Center, Houston, TX
  (contact Alexander Lazar, MD PhD alazar@mdanderson.org
  or Jon Trent, MD jtrent@mdanderson.org)
• Memorial Sloan Kettering Cancer Center, New York, NY
  (contact: Cristina Antonescu, MD)

Belgium

• University Hospital Gasthuisberg of the Catholic University in Leuven (contact Raf Sciot, MD or Maria Debiec-Rychter, MD PhD)

France

• Université Claude Bernard in Lyon (contact Jean-Yves Blay, MD PhD)

Italy

• Istituto Nazionale dei Tumori, Milan (contact Paolo Casali, MD)

United Kingdom

• Bristol Royal Infirmary, Bristol (contact Dr. Newton ACS Wong,  Department of Histopathology)
• University Hospital of Birmingham (contact Dr. Phillipe Taniere)
• University of Manchester (contact Dr. William Newman)