NTRK1

NTRK1

A gene on chromosome 1q21-q22 that encodes neurotrophic tyrosine kinase receptor type 1 (TrkA) which, after neurotrophin binding, phosphorylates itself (autophosphorylates) and members of the MAPK pathway. TrkA potently binds nerve growth factor (NGF) and is involved in differentiation and survival of neurons and in control of gene expression of enzymes involved in neurotransmitter synthesis. It is involved in cell differentiation and may play a role in specifying sensory neuron subtypes.

Molecular pathology
NTRK1 mutations are associated with congenital insensitivity to pain with anhidrosis, self-mutilating behaviour, mental retardation and cancer.
References in periodicals archive ?
Expression of nerve growth factor and its receptors NTRK1 and TNFRSF1B is regulated by estrogen and progesterone in the uteri of golden hamsters.
The neurotrophic tyrosine kinase receptors NTRK1 (tropomyosin receptor kinase A [TRKA]) and NTRK2 (TRKB) belong to a family of nerve growth factor receptors that influence many aspects of neuronal development, including promoting proliferation and survival.
Immunohistochemical expression of NTRK1 and NTRK2 has been reported as strong in tissues exhibiting squamous differentiation but is less consistent or absent in glandular tissues, (11) suggesting that these markers may be effective discriminators between squamous and glandular subtypes of non-small cell lung carcinoma.
Ignyta and the European Organisation for Research and Treatment of Cancer (EORTC) declared that they will partner through EORTCs Screening Patients for Efficient Clinical Trial Access (SPECTA) biomarker screening move to recognize patients who harbor a gene rearrangement to NTRK1, NTRK3, ROS1 or ALK and therefore may be competent for Ignytas global STARTRK-2 Phase 2 clinical study.
The landscape of kinase fusions in cancer) suggests NTRK fusion events may drive tumorigenesis in multiple cancers, with a total of 23 NTRK1, NTRK2 and NTRK3 fusions identified across nine tumor types.
Rearrangements of RET and NTRK1 tyrosine kinase receptors in papillary thyroid carcinomas.
Among them, GO:0004888 dominantly contains 33 transcripts encoding signal receptors, and these receptors could be further classified into several subgroups: OXTR, LOC431251 and SSTR3 belong to reproductive hormone receptors; CHRM2, ADRA2B, P2RX4, P2RY2, EDNRB2, GABRB2, GABRG2, LOC428961 and NPFFR2 function as receptors mediating neurotransmitters or neuropeptide; GRIN2B and GRIN3A could modulate the efficiency of synaptic transmission; NTRK1 and NTRK2 belong to the receptor tyrosine kinase (RTK) family, and are involved with neurotrophin (GO:0005030--neurotrophin receptor activity; and GO:0043121--neurotrophin binding) (Table 5).
Oncogenes and tumor suppressor genes in thyroid tumors Contributory genetic Neoplasm abnormalities Autonomously TSH receptor-activating functioning mutation; Gs-a mutation thyroid nodule decreasing GTPase activity Nodular goiter Many nodules are (colloid nodules) monoclonal, but precise gene abnormalities are unknown Follicular adenoma RAS mutations Papillary thyroid BRAF (V600E) activating carcinoma mutation; RET rearrange- ments (RET/PTC); NTRK1 rearrangements (TRK); 14q13.
The current NeoGenomics offering includes individual gene testing of BRCA1, BRCA2, MLH1, MSH2, EPCAM, MSH6, PMS2 genes as well as a comprehensive 73 gene panel that includes the following genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, DKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, XRCC2.
71,112,113) At least 3 types of the rearrangement exist, formed by fusion of the NTRK1 gene to different partners.
2) and NTRK1 (neurotrophic tyrosine kinase receptor 1) (OMIM 191315; 1q21-q22) encode tyrosine kinase receptors which, when aberrantly expressed, cause constitutive activation of the MAPK pathway.
Molecular analysis has revealed that approximately 70% of all follicular cell-derived thyroid carcinomas present with activating mutations of BRAF (v-raf murine sarcoma viral oncogene homolog B1), RAS, RET (rearranged during transfection), and NTRK1 (neurotrophic tyrosine kinase receptor 1).