IndraLab

Statements

NTRK1 binds SEL1L. 9 / 10
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"Most notably, a recent case report described a patient with PACC with the same SEL1L::NTRK1 fusion reported in this study, but lacking any other likely driver alterations, who had an exceptional response to the NTRK inhibitor, larotrectinib xref ."
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"In this report, we describe a patient with PACC whose tumor harbored both an activating SEL1L::NTRK1 fusion and somatic biallelic inactivation of NBN ."
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"Molecular testing showed the presence of an SEL1L-NTRK1 fusion."
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"Genomic testing results (FoundationOne CDx) revealed a SEL1L-NTRK1 fusion, loss of MEN1 , a low tumor mutational burden, and microsatellite-stable status by next-generation sequencing (NGS)."
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"This particular SEL1L-NTRK1 fusion event showed breakpoints between NTRK1 (chromosome 1: 156841872–156842158) and SEL1L (chromosome 14: 81996399–81996731)."
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"With an estimated tumor purity of 75% and a mean depth of 853 reads from this sample, the SEL1L-NTRK1 fusion was interpreted as in-frame and likely pathogenic with 176 reads as noted by the genomic testing laboratory."
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"At that time, a tissue specimen from the primary pancreaticoduodenectomy (herein referred to as the primary resection) was sent for clinical-grade next generation sequencing (NGS) as per standard of care, which identified a somatic pathogenic NBN mutation and an in-frame SEL1L::NTRK1 fusion (Table xref )."
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"No RET , BRAF , or RAF1 fusions were detected by WGS, targeted DNA sequencing or targeted RNA sequencing; however, we detected a complex structural rearrangement involving exon 1 of SEL1L and exon 8 of NTRK1 resulting in an expressed, in-frame, likely oncogenic SEL1L::NTRK1 fusion containing the NTRK1 kinase domain (Table xref and Fig. xref )."
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"Targeted RNA sequencing of the primary resection confirmed the presence of a SEL1L::NTRK1 fusion and further delineated the breakpoints for the fusion transcript to be at exon 1 of SEL1L and exon 8 of NTRK1 , resulting in an in-frame fusion containing the NTRK kinase domain."
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