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, Oregon Health & Sciences University, Portland, Oregon
  (http://www.ohsu.edu/pathology/TransResLabGIST.php)
  (contact:  contact: Rebecca Lewis, Lead technician, lewisr@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)

Austria

• 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  fritz.wrba@meduniwien.ac.at

Belgium

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

Brazil

• 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
  E-mail: cferreira@inca.gov.br

Canada

• Centre Hospitalier de l'Université de Montréal http://gistsgi.ca/en/
• Cross Cancer Institute, Edmonton, Alberta Canada
  Dr. Raymond Lai rlai@cancerboard.ab.ca
  or Angie Battochio angiebat@cancerboard.ab.ca
  Phone: 780-432-8338

France

• 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)
• Hôtel 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)
   

Germany

• Universitätsklinikum Bonn - Institut für Pathologie
  (Reference pathology lab GIST for Germany)
  Sigmund-Freud-Str. 25, D-53127 Bonn
  www.meb.uni-bonn.de/pathologie 
  (contact Eva Wardelmann   eva.wardelmann@ukb.uni-bonn.de )
   
• Universitätsklinikum Erlangen - Institut für Pathologie
  Krankenhausstr. 12, D-91054 Erlangen
  www.pathologie.uk-erlangen.de
  (Arbeitsgruppe Prof. Dr. R. Schneider-Stock)
  (contact Prof. Dr. Regine Schneider-Stock  regine.schneider-stock@uk-erlangen.de )
   
• Universitätsklinik Freiburg - Institut für Pathologie
  Breisacher Str. 115a, D-79106 Freiburg
  www.uniklinik-freiburg.de/pathologie
  (Arbeitsgruppe PD Dr. F. Haller, C. Otto)
  contact PD Dr. Florian Haller    florian.haller@uniklinik-freiburg.de
  or Dr. Claudia Otto    claudia.otto@uniklinik-freiburg.de 
   
• Universitätsmedizin Göttingen, Georg-August-Universität
  Zentrum für Pathologie, Abteilung Gastropathologie
  Robert-Koch-Str. 40, D-37075 Göttingen
  www.pathologie-goettingen.de/Abteilungen/Gastropathologie
  (Arbeitsgruppe Prof. Dr. L. Füzesi, J. Kitz)
  contact Prof. Dr. László Füzesi    fuezesi@med.uni-goettingen.de 
   
•  Universitätsklinikum Hamburg-Eppendorf
  Labor für Tumor und Transplantationsimmunologie der
  Klinik und Poliklinik für Urologie und Zentrum für Klinische Pathologie
  Martinistr. 52, D-20246 Hamburg
  www.uke.de/institute/pathologie
  (Arbeitsgruppe Prof. Dr. G. Sauter, Dr. T. Grob)
  contact Dr. Thomas Grob    t.grob@uke.de 
   
• Universitätsklinikum Heidelberg, Pathologisches Institut
  Im Neuenheimer Feld 220/221, D-69120 Heidelberg
  www.klinikum.uni-heidelberg.de/index.php?id=428
  (Arbeitsgruppe Dr. R. Penzel, PD Dr. G. Mechtersheimer, Prof. Dr. P. Schirmacher)
  Dr. Roland Penzel    roland.penzel@med.uni-heidelberg.de 
   
•  Institut für Pathologie Kaufbeuren
  Dr. Marlene Lessel
  PD Dr. med. Andreas Gaumann
  Dr. Gutermann Str. 6
  D-87600 Kaufbeuren:
  www.pathologie-kaufbeuren.de
  PD Dr. med. Andreas Gaumann  andreas.gaumann@pathologie-kaufbeuren.de 
   
• Universität Regensburg, Institut für Pathologie
  Franz-Josef-Strauss-Allee 11, D-93053 Regensburg
  www.uni-regensburg.de/Fakultaeten/Medizin/Pathologie
  PD Dr. Wolfgang Dietmaier   wolfgang.dietmaier@klinik.uni-regensburg.de 

Italy

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

Singapore

• Singapore National University Hospital, Singapore
  contact Prof. Manuel Salto-Tellez, Department of Pathology
  Phone: 65-67724704
  E-mail: patmst@nus.edu.sg 

South Korea

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

Switzerland

• 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 sdirnhofer@uhbs.ch
   
• Institut Universitaire de Pathologie
  Rue du Bugnon 25, CH-1011 Lausanne
  Tel. +41 (0) 21 – 314 72 16
  contact  Prof. Dr. Louis Guillou  louis.guillou@chuv.ch
  or Mlle Béatrice Pache, Secrétaire
  Tel. +41 (0) 21 – 314 71 11, beatrice.pache@chuv.ch

Taiwan

• Mackay Memorial Hospital, Taipei
  contact Dr. Chin-Yuan Tzen jeffbucknell@gmail.com
   or Vivian Chang, MS vivianchang515@gmail.com

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)