Category Archives: NTRK fusion

SCYL3-NTRK1, HEAT repeats with an active kinase

An exciting and perplexing new TrkA fusion: SCYL3-NTRK1. Yes, we have yet another chromosome 1 intra-chromosome rearrangement with NTRK1. This time it is with a rather poorly understood protein whose gene name is SCYL3 and protein name is PACE1 (Protein-associating

A brief history of NTRK fusions

NTRK fusions (Tropomyosin related kinase fusion proteins) were discovered thirty years ago in search for colon carcinoma associated oncogenes (Martin-Zanca 1986). In those days, fusion proteins were called chimeras, after a Greek mythological monster.  The syntax in most common usage

QKI-NTRK2, quaking with a kinase

The QKI-NTRK2 fusion was mentioned in a report of somatic mutations in pilocytic astrocytoma, the most common childhood brain tumor (Jones 2013). The protein quaking encoded by the QKI gene is an RNA-binding protein. The many splice variations of quaking are making

TPM3-NTRK1, an actin targeted kinase?

Tropomyosins bind to the cytoskeleton protein actin. They also modulate how other actin binding proteins bind to actin. Nemaline myopathy and Rod myopathy are diseases caused by variations in the TPM3 gene. Several splice variants of tropomyosin are coded for

LMNA-NTRK1, weaving kinase domains into a fabric

Lamins A and C are alternatively spliced products of the LMNA gene. Lamins are considered nuclear intermediate filaments. Lamins are components of the nuclear lamina. The nuclear lamina lines the nucleoplasmic side of the nuclear membrane. Diseases caused by variations

Detecting Gene Rearrangements in Patient Populations

Detecting Gene Rearrangements in Patient Populations Through a 2-Step Diagnostic Test Comprised of Rapid IHC Enrichment Followed by Sensitive Next-Generation Sequencing (NGS). Murphy DA, Ely HA, Shoemaker R, Boomer A, Culver BP, Hoskins I, Haimes JD, Walters RD, Fernandez D,

NFASC-NTRK1, a kinase fused to a glue protein

Neurofascin is a cell adhesion protein that guides neurons. In the wild type protein, the “glue-like” self ssociations occur outside the neuron.  This is not always the case when the neurofascin gene, NFASC, is fused to the TrkA gene, NTRK1.  NFASC-NTRK1 was

ETV6-NTRK3, produces a kinase polymer from a transcription factor

The ETV6-NTRK3 fusion is diagnostic for both secretory carcinoma in breast, and mammary analog secretory carcinoma or MASC. The ETV6 gene codes for a transcription factor in the ETS (E26 transformation specific) family. The protein product of this gene is

BCAN-NTRK1 fusion in glioblastoma multiforme (GBM) patients

Kim and coworkers (2014) searched RNA-Seq data from 162 glioblastoma multiforme (GBM) patients in the Cancer Genome Altas. The goal was to find fusion genes that might be driving the cancer. The BCAN-NTRK1 was one of the potential driving mutations

Entrectinib Sensitivity Associated With a Novel LMNA-NTRK1 Gene Fusion

The following is a summary of a report that inspired the reference on the LMNA-NTRK1 fusion. Sartore-Bianchi and coworkers who mapped the location of this carcinogenic fusion protein. Things to note in this report:  1. The authors demonstrated phosphorylation of enzymes