• Test Code:
    4500
  • Department:
    Solid Tumors
  • Test Synonyms:
    GIST Cancer Gene PanelAmpliSeq GIST PanelIon Torrent GIST PanelAKT1AKT2AKT3ATMBRAFCDKN2AHRASKITKRASMAP2K1NF1NRASPDGFRAPIK3CAPTENPTPN11SDHASDHAF1SDHAF2SDHBSDHCSDHDTP53
  • CPT Code(s):
    81450
Background:

Screening for mutations in oncogenes and tumor suppressor genes is increasingly important in delivering personalized cancer care. The GeneTrails® GIST Panel delivers information on a variety of treatment-informative mutations in 23 genes commonly involved in GI stromal tumors 1-9, covering all of the hotspot mutation sites in the genes listed below. The panel has a sensitivity of ≤10% mutant allele.  

 AKT1   BRAF   KRAS   PDGFRA   SDHA  SDHC
 AKT2   CDKN2A   MAP2K1   PIK3CA   SDHAF1   SDHD
 AKT3   HRAS   NF1   PTEN   SDHAF2   TP53
 ATM   KIT   NRAS  PTPN11   SDHB   

Methodology:

The GIST Panel is performed on DNA from formalin-fixed, paraffin-embedded (FFPE) tumor tissue using next-generation, semiconductor-based sequencing (Ion Torrent platform). Input DNA is amplified using the AmpliSeq technology (Ion Torrent), after which the amplicons are modified with adaptors, re-amplified, and subjected to emulsion PCR. The final products are sequenced on a semiconductor-based chip.

  • Input DNA: 20 ng

Specimen Requirements:

  • A paraffin block or
  • 10 unstained sections of tumor (4-5 microns) (15 sections for small biopsies)

Contact Client Services for shipping materials and procedures at (855)535-1522

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information.       

Test Performed (Days):

Twice per week

Turn Around Time:

10 - 14 days

Shipment Sensitivity Requirements:

  • Keep specimen cool during transit. Do not ship on dry ice.
  • Please use the cold pack provided in the KDL shipping kit.
  • Ship the specimen overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping materials and procedures at (855) 535-1522.

References:

  1. Corless CL, Fletcher JA, Heinrich MC. Biology of gastrointestinal stromal tumors. J Clin Oncol 22:3813-3825, 2004.
  2. Debiec-Rychter M, Sciot R, Le Cesne A, Schlemmer M, Hohenberger P, van Oosterom AT, Blay J-Y, Leyvraz S, Stul M, Casali PG, Zalcberg J, Verweij J, Van Glabbeke M, Hagemeijer A, Judson I. KIT mutations and dose selection for imatinib in patients with advanced gastrointestinal stromal tumours. Eur J Cancer 42:1093-103, 2006.
  3. Heinrich MC, Owzar K, Corless CL, Hollis D, Borden EC, Fletcher CD, Ryan CW, von Mehren M, Blanke CD, Rankin C, Benjamin RS, Bramwell VH, Demetri GD, Bertagnolli MM, Fletcher JA. Correlation of kinase genotype and clinical outcome in the North American Intergroup Phase III trial of imatinib mesylate for treatment of advanced gastrointestinal stromal tumor: CALGB 150105 Study by Cancer and Leukemia Group B and Southwest Oncology Group. J Clin Oncol 26:5360-7, 2008.
  4. Heinrich MC, Corless CL, Demetri GD, Blanke CD, von Mehren M, Joensuu H, McGreevey LS, Chen C-J, Kiese B, Eisenberg B, Roberts PJ, Singer S, Fletcher CDM, Silberman S, Dimitrijevic S, Fletcher JA.  Kinase mutations and imatinib mesylate response in patients with metastatic gastrointestinal stromal tumor. J Clin Onc 21:4342-4349, 2003.
  5. Debiec-Rychter M, Dumez H, Judson I, Wasag B, Verweij J, Brown M, Dimitrijevic S, Sciot R, Stul M, Vranck H, Scurr M, Hagemeijer A, Van Glabbeke M, Van Oosterom AT. Use of c-KIT/PDGFRA mutational analysis to predict the clinical response to imatinib in patients with advanced gastrointestinal stromal tumours entered on phase I and II studies of the EORTC Soft Tissue and Bone Sarcoma Group. Eur J Cancer 40:689-95, 2004.
  6. Janeway KA, Kim SY, Lodish M, Nosé V, Rustin P, Gaal J, Dahia PL, Liegl B, Ball ER, Raygada M, Lai AH, Kelly L, Hornick JL; NIH Pediatric and Wild-Type GIST Clinic, O'Sullivan M, de Krijger RR, Dinjens WN, Demetri GD, Antonescu CR, Fletcher JA, Helman L, Stratakis CA. Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):314-8.
  7. Pantaleo MA, Astolfi A, Urbini M, Nannini M, Paterini P, Indio V, Saponara M, Formica S, Ceccarelli C, Casadio R, Rossi G, Bertolini F, Santini D, Pirini MG, Fiorentino M, Basso U, Biasco G. Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.  Eur J Hum Genet. 2013 Apr 24. doi: 10.1038/ejhg.2013.80. [Epub ahead of print]
  8. Corless CL, Barnett CM, Heinrich MC. Gastrointestinal stromal tumors: origin and molecular oncology. Nat Rev Cancer. 2011 Nov 17;11(12)865-78.
  9. Nannini M, Biasco G, Astolfi A, Pantaleo MA. An overview on molecular biology of KIT/PDGFRA wild type (WT) gastrointestinal stromal tumors (GIST). J Med Genet. 2013 Jul 5. [Epub ahead of print]

Additional Info:

Recommended Use: 
The GIST Panel is designed to molecularly subclassify GI stromal tumors, which is important in predicting the response to kinase inhibitor therapy and, in some cases, in determining the optimal treatment dose.