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 of most importance in decisionmaking 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
  • GISTs in young patients who are more likely to have normal KIT and PDGFRA genes (wildtype GIST)
  • GISTs with epithelioid cell morphology that have an increased chance of being wildtype or having a mutation in the PDGFRA gene
  • any GIST that shows primary resistance to imatinib.

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

United States




  • Mayo Clinic Laboratories, Rochester, Minnesota
    e-mail inquiries to
  • M.D. Anderson Cancer Center, Houston, TX
    (contact Alexander Lazar, MD PhD
  • Memorial Sloan Kettering Cancer Center, New York, NY
    (contact: Cristina Antonescu, MD)


  • AKH-Wien Unikliniken – Klinisches Institut für Pathologie
    Währinger Gürtel 18-20, A-1090 Wien
    Tel. +43 (0) 1 – 40400-3650 /-3651 /-3656, Fax +43 (0) 1 – 40400-3707
    contact  Univ.-Prof. Dr. Friedrich Wrba


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


  • Hospital São Lucas da PUCRS,Porto Alegre, Brazil
    contact Dr. Carlos Barrios
  • Progenetica Diagnosticos Moleculares, Rio de Janeiro
    contact Dr. Carlos Gil Ferreira
    Phone: 55 21 2540 5529



  • Université Claude Bernard in Lyon
    (contact Jean-Yves Blay, MD PhD)
  • Hôpital Ambroise Paré, Boulogne-Billancourt
    contact (Prof. Emile)
  • Institut Bergonié, Bordeaux
    (contact Prof. Coindre)
  • CHU, Brest (Dr L Doucet)
  • H&ocirocirc;tel Dieu, Clermont-Ferrand (Dr JL Pretet)
  • Centre Oscar Lambret, Lille (Dr MP Buisine)
  • Hôpital Edouard Herriot, Lyon (Dr PP Bringuier)
  • Institut Paoli Calmette, Marseille (Dr G Monges)
  • Hôpital St Antoine, Paris (Dr P Cervera)
  • Hôpital Robert Debré, Reims (Dr F Le Pessot)
  • Hôpital de Haute-Pierre, Strasbourg (Dr A Mechine-Neuville)
  • Institut Gustave Roussy, Villejuif (Dr Ph Terrier)



  • Instituto Nazionale dei Tumori, Milan
    (contact Paolo Casali, MD)
  • Dipartimento di Oncologia, Treviso
    Azienda Unità Locale Socio Sanitaria 9 Treviso
    contact Angelo Paolo Dei Tos M.D., email:


  • Centrum Onkologii-Instytut
    Zakład Biologii Molekularnej
    ul. Roentgena 5
    502-781 Warszawa
    contact Prof. Janusz A. Siedlecki
  • Katedra i Zak‚ad Biologii i Genetyki Akademii Medycznejw Gdasku
    ul. DÄbinki 1
    80-211 Gdask
    contact Prof. Janusz Limon


  • Singapore National University Hospital, Singapore
    contact Prof. Manuel Salto-Tellez, Department of Pathology
    Phone: 65-67724704

South Korea

  • Samsung University Medical Center, Seoul, Korea
    contact Dr. Kyoung-Mee Kim


  • Universität Basel – Institut für Pathologie
    Abteilungsleiter Histo-Pathologie
    Schönbeinstrasse 40, CH-4003 Basel
    Tel. +41 (0) 61 – 265 27 89
    contact Prof. Dr. Stephan Dirnhofer
  • Institut Universitaire de Pathologie
    Rue du Bugnon 25, CH-1011 Lausanne
    Tel. +41 (0) 21 – 314 72 16
    contact  Prof. Dr. Louis Guillou
    or Mlle Béatrice Pache, Secrétaire
    Tel. +41 (0) 21 – 314 71 11,


United Kingdom

  • Bristol Royal Infirmary, Bristol
    Marlborough Street,
    Bristol BS2 8HW
    contact Dr. Newton ACS Wong,  Department of Histopathology
    +44 (0)117 923 0000
  • University Hospital of Birmingham
    contact Dr. Phillipe Taniere, Department of Cellular Pathology
    tel + 44 (0)121 414 6370/4016
  • University of Manchester
    St Mary’s Hospital
    Manchester M13 0JH
    contact Dr. William Newman, Academic Unit of Medical Genetics;
    tel: +44 (0)161 276 6264
  • All Wales Molecular Genetics Laboratory
    Cardiff and Vale University Health Board
    Heath Park
    Cardiff CF14 4XW
    contact Rachel Butler, FRCPath, Consultant Clinical Scientist
    Tel. 02920 742641
  • The Institute of Cancer Research and Royal Marsden NHS Foundation Trust
    15 Cotswold Road, Surrey
    SM2 5NG, UK
    contact Dr. David Gonzalez de Castro, Head of Molecular Diagnostics
    tel: +44 (0)20 8722 4266