Now in Effect
The Circulating Tumor Mutation Profile 1000 order will be available from the Molecular Pathology Laboratory for use in detecting tumor mutations circulating in the blood beginning Tuesday, Oct 5th. It combines DNA and RNA next generation sequencing for detection of common recurrent mutations from plasma specimens sometimes referred to as a “liquid biopsy”.

Key mutations:

• Common hotspot mutations are detected and reported for hotspot genes: AKT1, ALK, AR, ARAF, BRAF, CHEK2, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ESR1, FGFR1, FGFR2, FGFR3, FGFR4, FLT3, GNA11, GNAQ, GNAS, HRAS, IDH1, IDH2, KIT, KRAS, MAP2K1, MAP2K2, MET, MTOR, NRAS, NTRK1, NTRK3, PDGFRA, PIK3CA, RAF1, RET, ROS1, SF3B1, SMAD4, SMO.
• Fusion transcripts are detected and reported involving rearrangements of these genes: ALK, BRAF, ERG, ETV1, FGFR1, FGFR2, FGFR3, MET, NTRK1, NTRK3, RET and ROS1.
• Full coding sequence for tumor suppressor genes: APC, FBXW7, PTEN and TP53.
• Copy number variants (gains) in hotspot genes: CCND1, CCND2, CCND3, CDK4, CDK6, EGFR, ERBB2, FGFR1, FGFR2, FGFR3, MET, MYC
• FDA approved drugs may be available in association with particular mutation profiles for many of the gene targets included in this testing, dependent on tumor type and treatment strategy.

EPIC Test Name: CIRCULATING TUMOR MUTATION PROFILE 1000 AND INTERPRETATION

EPIC Order Code: LAB9076

Specimen type: 20 mL peripheral blood collected in two dedicated 10 mL EDTA tubes (Hospital Stores number 171186). Please note that these 10 mL EDTA tubes need to be filled completely so that adequate test analytical sensitivity can be achieved.

Rejection Criteria: Deliver to laboratory same day, no later than Noon on Fridays. No weekend collection or specimens older than 24 hours will be accepted. Specimens not meeting acceptable volume or from other tube types will be rejected.

Method: DNA and RNA based next-generation sequencing. Testing is batched. Turnaround time is 7-10 days.

Results Reported: DNA variants, copy number gains and RNA Fusions detected.

Questions concerning testing can be directed to Deqin Ma, MD PhD (384-5700), Anthony Snow, MD (353-8986) or Aaron Bossler, MD, PhD (384-9566).