New Test Options for <em>NTRK</em> Gene Fusions

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The presence NTRK gene fusions is one of the eligibility requirements for the recently FDA-approved therapy Vitrakvi (larotrectinib), a therapy indicated in adult and pediatric patients with solid tumors regardless of the type of tumor. NTRK gene fusions have been described in many cancers at various frequencies, including common cancers such as lung, thyroid, and colorectal cancers. 

Testing Specific for the Assessment of NTRK Gene Fusions:

• NTRK Gene Fusion Panel (Mayo ID: NTRK): This targeted panel provides NGS sequencing of the NTRK genes – NTRK1, NTRK2, and NTRK3.  This method is designed to detect the most common NTRK fusions as well as similar NTRK fusions involving novel fusion partners.
• Tropomyosin Receptor Kinase (TRK) Immunostain, Technical Component Only (Mayo ID: TRK): IHC staining with a pan-TRK antibody detects proteins TRKA, TRKB, and TRKC which are encoded by NTRK1, NTRK2, and NTRK3.

Testing Designed for Specific Tumor Types:

• ETV6 (12p13.2) Rearrangement, FISH, Tissue (Mayo ID: ETV6F): In specific diseases, such as infantile fibrosarcoma, where the predominant abnormality and gene fusion partner is known, FISH testing is a reliable method for detecting NTRK gene fusions. In the case of infantile fibrosarcoma, mammary analogue secretory carcinoma, and secretory carcinoma of the breast, the NTRK3-ETV6 gene fusion is the predominant driver mutation.
• MayoComplete Lung Cancer Mutations, Next-Generation Sequencing, Tumor (Mayo ID: MCLNM): This test uses targeted next-generation sequencing to determine microsatellite instability status and to evaluate for somatic mutations within the ALK, BRAF, EGFR, ERBB2, HRAS, KRAS, MDM2, MET, NRAS, RET, ROS1, and STK11 genes.
• Neuro-Oncology Expanded NGS Panel with Rearrangement, Tumor (Mayo ID: NONCP): The neuro-oncology specific NGS panel assesses for mutations in 150 genes and rearrangements (fusions) in 81 genes including NTRK1, NTRK2, and NTRK3. 
• Sarcoma Targeted Gene Fusion/Rearrangement Panel, Next-Generation Sequencing, Tumor (Mayo ID: SARCP): This panel is useful for diagnosing specific soft tissue and bone tumors (sarcoma) based on the observed gene fusions (eg, PAX3/FOXO1 gene fusion observed in alveolar rhabdomyosarcoma, EWSR1-FLI1 gene fusion for Ewing’s sarcoma, SS18-SSX1/2 genefusion for synovial sarcoma)

Alyssa Frank

Alyssa Frank is a Marketing Segment Manager at Mayo Clinic Laboratories. She leads marketing strategies for product management and specialty testing. Alyssa has worked at Mayo Clinic since 2015.