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NTRK1 Gene Rearrangement

MedGen UID:
313759
•Concept ID:
C1710329
•
Cell or Molecular Dysfunction
Synonyms: MTC Gene Rearrangement; Neurotrophic Receptor Tyrosine Kinase 1 Gene Rearrangement; Neurotrophic Tyrosine Kinase, Receptor, Type 1 Gene Rearrangement; NTRK1 Rearrangement; p140-TrkA Gene Rearrangement; TRK Gene Rearrangement; TRK Rearrangement; Trk-A Gene Rearrangement; TRK1 Gene Rearrangement; TRKA Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the NTRK1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNTRK1 Gene Rearrangement

Professional guidelines

PubMed

Clinical Utility and Performance of an Ultrarapid Multiplex RNA-Based Assay for Detection of ALK, ROS1, RET, and NTRK1/2/3 Rearrangements and MET Exon 14 Skipping Alterations.
Chu YH, Barbee J, Yang SR, Chang JC, Liang P, Mullaney K, Chan R, Salazar P, Benayed R, Offin M, Drilon A, Ladanyi M, Nafa K, Arcila ME
J Mol Diagn 2022 Jun;24(6):642-654. Epub 2022 Apr 14 doi: 10.1016/j.jmoldx.2022.03.006. PMID: 35430374Free PMC Article
Detection of NTRK fusions in glioblastoma: fluorescent in situ hybridisation is more useful than pan-TRK immunohistochemistry as a screening tool prior to RNA sequencing.
Bourhis A, Caumont C, Quintin-Roué I, Magro E, Dissaux G, Remoué A, Le Noac'h P, Douet-Guilbert N, Seizeur R, Tyulyandina A, Schick U, Merlio JP, Marcorelles P, Cappellen D, Uguen A
Pathology 2022 Feb;54(1):55-62. Epub 2021 Sep 10 doi: 10.1016/j.pathol.2021.05.100. PMID: 34518039

Recent clinical studies

Etiology

Clinicopathological features and immunohistochemical utility of NTRK-, ALK-, and ROS1-rearranged papillary thyroid carcinomas and anaplastic thyroid carcinomas.
Nozaki Y, Yamamoto H, Iwasaki T, Sato M, Jiromaru R, Hongo T, Yasumatsu R, Oda Y
Hum Pathol 2020 Dec;106:82-92. Epub 2020 Sep 25 doi: 10.1016/j.humpath.2020.09.004. PMID: 32980422
Durable Clinical Response to Entrectinib in NTRK1-Rearranged Non-Small Cell Lung Cancer.
Farago AF, Le LP, Zheng Z, Muzikansky A, Drilon A, Patel M, Bauer TM, Liu SV, Ou SH, Jackman D, Costa DB, Multani PS, Li GG, Hornby Z, Chow-Maneval E, Luo D, Lim JE, Iafrate AJ, Shaw AT
J Thorac Oncol 2015 Dec;10(12):1670-4. doi: 10.1097/01.JTO.0000473485.38553.f0. PMID: 26565381Free PMC Article

Diagnosis

A Case of Inv(1)(q23q31) TPR-NTRK1 Fusion-Positive Spindle Cell Neoplasm in an Infant-Uncovered by Next-Generation Sequencing: Diagnostic Challenge, Review, and Therapeutic Implications.
Rekhi B, Shetty O, Bapat P, Gurav M, Qureshi S
Int J Surg Pathol 2021 Feb;29(1):102-108. Epub 2020 Jun 3 doi: 10.1177/1066896920927467. PMID: 32489127
Clinicopathological features and immunohistochemical utility of NTRK-, ALK-, and ROS1-rearranged papillary thyroid carcinomas and anaplastic thyroid carcinomas.
Nozaki Y, Yamamoto H, Iwasaki T, Sato M, Jiromaru R, Hongo T, Yasumatsu R, Oda Y
Hum Pathol 2020 Dec;106:82-92. Epub 2020 Sep 25 doi: 10.1016/j.humpath.2020.09.004. PMID: 32980422
Lipofibromatosis-like neural tumour: a clinicopathological study of ten additional cases of an emerging novel entity.
Lao IW, Sun M, Zhao M, Yu L, Wang J
Pathology 2018 Aug;50(5):519-523. Epub 2018 Jun 27 doi: 10.1016/j.pathol.2018.03.007. PMID: 29958731
Mechanisms of Resistance to NTRK Inhibitors and Therapeutic Strategies in NTRK1-Rearranged Cancers.
Fuse MJ, Okada K, Oh-Hara T, Ogura H, Fujita N, Katayama R
Mol Cancer Ther 2017 Oct;16(10):2130-2143. Epub 2017 Jul 27 doi: 10.1158/1535-7163.MCT-16-0909. PMID: 28751539
Generalized eruptive histiocytosis associated with a novel fusion in LMNA-NTRK1.
Pinney SS, Jahan-Tigh RR, Chon S
Dermatol Online J 2016 Aug 15;22(8) PMID: 27617936

Therapy

A Case of Inv(1)(q23q31) TPR-NTRK1 Fusion-Positive Spindle Cell Neoplasm in an Infant-Uncovered by Next-Generation Sequencing: Diagnostic Challenge, Review, and Therapeutic Implications.
Rekhi B, Shetty O, Bapat P, Gurav M, Qureshi S
Int J Surg Pathol 2021 Feb;29(1):102-108. Epub 2020 Jun 3 doi: 10.1177/1066896920927467. PMID: 32489127
TRKA expression and NTRK1 gene copy number across solid tumours.
Mauri G, Valtorta E, Cerea G, Amatu A, Schirru M, Marrapese G, Fiorillo V, Recchimuzzo P, Cavenago IS, Bonazzina EF, Motta V, Lauricella C, Veronese S, Tosi F, Maiolani M, Rospo G, Truini M, Bonoldi E, Christiansen J, Potts SJ, Siena S, Sartore-Bianchi A
J Clin Pathol 2018 Oct;71(10):926-931. Epub 2018 May 25 doi: 10.1136/jclinpath-2018-205124. PMID: 29802225
Mechanisms of Resistance to NTRK Inhibitors and Therapeutic Strategies in NTRK1-Rearranged Cancers.
Fuse MJ, Okada K, Oh-Hara T, Ogura H, Fujita N, Katayama R
Mol Cancer Ther 2017 Oct;16(10):2130-2143. Epub 2017 Jul 27 doi: 10.1158/1535-7163.MCT-16-0909. PMID: 28751539
Durable Clinical Response to Entrectinib in NTRK1-Rearranged Non-Small Cell Lung Cancer.
Farago AF, Le LP, Zheng Z, Muzikansky A, Drilon A, Patel M, Bauer TM, Liu SV, Ou SH, Jackman D, Costa DB, Multani PS, Li GG, Hornby Z, Chow-Maneval E, Luo D, Lim JE, Iafrate AJ, Shaw AT
J Thorac Oncol 2015 Dec;10(12):1670-4. doi: 10.1097/01.JTO.0000473485.38553.f0. PMID: 26565381Free PMC Article

Prognosis

A Case of Inv(1)(q23q31) TPR-NTRK1 Fusion-Positive Spindle Cell Neoplasm in an Infant-Uncovered by Next-Generation Sequencing: Diagnostic Challenge, Review, and Therapeutic Implications.
Rekhi B, Shetty O, Bapat P, Gurav M, Qureshi S
Int J Surg Pathol 2021 Feb;29(1):102-108. Epub 2020 Jun 3 doi: 10.1177/1066896920927467. PMID: 32489127
Clinicopathological features and immunohistochemical utility of NTRK-, ALK-, and ROS1-rearranged papillary thyroid carcinomas and anaplastic thyroid carcinomas.
Nozaki Y, Yamamoto H, Iwasaki T, Sato M, Jiromaru R, Hongo T, Yasumatsu R, Oda Y
Hum Pathol 2020 Dec;106:82-92. Epub 2020 Sep 25 doi: 10.1016/j.humpath.2020.09.004. PMID: 32980422
Lipofibromatosis-Like Neural Tumor: A Case Report and Review of the Literature.
Crumbach L, Descotes F, Bringuier PP, Poulalhon N, Balme B, Juliet T, Lopez J, Harou O
Am J Dermatopathol 2020 Nov;42(11):881-884. doi: 10.1097/DAD.0000000000001734. PMID: 32618702
TRKA expression and NTRK1 gene copy number across solid tumours.
Mauri G, Valtorta E, Cerea G, Amatu A, Schirru M, Marrapese G, Fiorillo V, Recchimuzzo P, Cavenago IS, Bonazzina EF, Motta V, Lauricella C, Veronese S, Tosi F, Maiolani M, Rospo G, Truini M, Bonoldi E, Christiansen J, Potts SJ, Siena S, Sartore-Bianchi A
J Clin Pathol 2018 Oct;71(10):926-931. Epub 2018 May 25 doi: 10.1136/jclinpath-2018-205124. PMID: 29802225

Clinical prediction guides

Clinicopathological features and immunohistochemical utility of NTRK-, ALK-, and ROS1-rearranged papillary thyroid carcinomas and anaplastic thyroid carcinomas.
Nozaki Y, Yamamoto H, Iwasaki T, Sato M, Jiromaru R, Hongo T, Yasumatsu R, Oda Y
Hum Pathol 2020 Dec;106:82-92. Epub 2020 Sep 25 doi: 10.1016/j.humpath.2020.09.004. PMID: 32980422
TRKA expression and NTRK1 gene copy number across solid tumours.
Mauri G, Valtorta E, Cerea G, Amatu A, Schirru M, Marrapese G, Fiorillo V, Recchimuzzo P, Cavenago IS, Bonazzina EF, Motta V, Lauricella C, Veronese S, Tosi F, Maiolani M, Rospo G, Truini M, Bonoldi E, Christiansen J, Potts SJ, Siena S, Sartore-Bianchi A
J Clin Pathol 2018 Oct;71(10):926-931. Epub 2018 May 25 doi: 10.1136/jclinpath-2018-205124. PMID: 29802225

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