Fig. 1: WGS identifies a novel NTRK2 ITD resulting in a duplication of the transmembrane domain. | npj Precision Oncology

Fig. 1: WGS identifies a novel NTRK2 ITD resulting in a duplication of the transmembrane domain.

From: A novel TRKB-activating internal tandem duplication characterizes a new mechanism of receptor tyrosine kinase activation

Fig. 1: WGS identifies a novel NTRK2 ITD resulting in a duplication of the transmembrane domain.

a WGS identifies a 175 kb duplication in chromosome 9, spanning intron 9-13 of NTRK2 (NM_001018064) in a patient diagnosed with CNS neuroblastoma. b NTRK2 ITD results in an in-frame fusion transcript that encodes a 964 amino acid protein with duplication of exon 10-13, including the transmembrane domain. Schematics were generated with ProteinPaint23 and show NTRK2 ITD, two isoforms of WT NTRK2, isoform c and isoform a, and the SPECC1L::NTRK2 gene fusion, an established kinase-activating variant. c PCR performed on patient cDNA with primers targeting the 5’ and 3’ ends of NTRK2 amplified NTRK2 ITD and WT NTRK2. d Immunohistochemistry staining of patient tumor tissue with an anti-Trk antibody.

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