Monthly Archives: September 2016

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

SQSTM1-NTRK1, a kinase gets fused with a garbage disposal protein

The SQSTM1 gene product, p62, is a scaffold protein involved in protein turnover and signaling. p62 is commonly found in dense protein bodies in eukaryotic cells. In autophagy, p62 (the protein) shuttles ubiquitnated proteins to the autophagosome for degradation (Ciuffa

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