Research Papers:
Comprehensive genomic profiling identifies novel NTRK fusions in neuroendocrine tumors
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Abstract
Darren S. Sigal1, Munveer S. Bhangoo1, Jonathan A. Hermel2, Dean C. Pavlick3, Garrett Frampton3, Vincent A. Miller3, Jeffrey S. Ross3 and Siraj M. Ali3
1Division of Hematology/Oncology, Scripps Clinic Medical Group, La Jolla, CA, USA
2Department of Graduate Medical Education, Tulane University School of Medicine, New Orleans, LA, USA
3Foundation Medicine, Inc. Cambridge, MA, USA
Correspondence to:
Darren S. Sigal, email: [email protected]
Keywords: next-generation sequencing; neuroendocrine tumor; NET; NTRK; neuroendocrine cancer
Received: August 10, 2018 Accepted: October 06, 2018 Published: November 09, 2018
ABSTRACT
CGP results from >60,000 cases were screened to identify NTRK fusion events from cases of neuroendocrine tumors. 2417 NET patients from diverse anatomic sites were identified. From this dataset, six cases harbored NTRK fusions which included intra- and inter-chromosomal translocations. A NTRK fusion frequency of approximately 0.3% was found across all subtypes of NETs. Three cases involved translocations of NTRK1 with unique fusion partners (GPATCH4, PIP5K1A, CCDC19). Co-occurring alterations occurred in five cases. NTRK alterations were identified in nearly the full spectrum of NETs, including from the small intestine, pancreas, lung, and others. With the late stage clinical development of NTRK TKIs (including entrectinib and larotrectinib), these findings may further inform targeted approaches to therapy in NET.
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