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NTRK3 Gene Rearrangement

MedGen UID:
1392751
•Concept ID:
C4330762
•
Cell or Molecular Dysfunction
Synonyms: Neurotrophic Tyrosine Kinase Receptor 3 Gene Rearrangement; Neurotrophic Tyrosine Kinase Receptor Type 3 Gene Rearrangement; Neurotrophic Tyrosine Kinase, Receptor, Type 3 Gene Rearrangement; NTRK3 Rearrangement; TRKC Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the NTRK3 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNTRK3 Gene Rearrangement

Professional guidelines

PubMed

Secretory carcinoma of the breast and its histopathological mimics: value of markers for differential diagnosis.
Osako T, Takeuchi K, Horii R, Iwase T, Akiyama F
Histopathology 2013 Oct;63(4):509-19. Epub 2013 Aug 14 doi: 10.1111/his.12172. PMID: 23944930

Recent clinical studies

Etiology

Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21.
Capela de Matos RR, Othman M, Ferreira GM, Monteso K, de Souza MT, Rouxinol M, Melo JB, Carreira IM, Abdelhay E, Liehr T, Ribeiro RC, Silva M
Cancer Genet 2022 Apr;262-263:16-22. Epub 2021 Dec 22 doi: 10.1016/j.cancergen.2021.12.003. PMID: 34974289
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

Diagnosis

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
Motta M, Barresi S, Pizzi S, Bifano D, Lopez Marti J, Garrido-Pontnou M, Flex E, Bruselles A, Giovannoni I, Rotundo G, Fragale A, Tirelli V, Vallese S, Ciolfi A, Bisogno G, Alaggio R, Tartaglia M
J Pathol 2024 Jun;263(2):166-177. Epub 2024 Apr 17 doi: 10.1002/path.6272. PMID: 38629245
Secretory carcinoma of salivary type in a lymph node presenting as a neck cyst diagnosed by cytology: A case report.
Hrudka J, Drozenová J, Sýba J, Gregová M, Dundr P
Diagn Cytopathol 2021 Jan;49(1):E1-E6. Epub 2020 Jul 20 doi: 10.1002/dc.24550. PMID: 32687687
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
Searching for mammary analogue [corrected] secretory carcinoma of salivary gland among its mimics.
Pinto A, Nosé V, Rojas C, Fan YS, Gomez-Fernandez C
Mod Pathol 2014 Jan;27(1):30-7. Epub 2013 Jun 28 doi: 10.1038/modpathol.2013.84. PMID: 23807775
Secretory carcinoma of the breast and its histopathological mimics: value of markers for differential diagnosis.
Osako T, Takeuchi K, Horii R, Iwase T, Akiyama F
Histopathology 2013 Oct;63(4):509-19. Epub 2013 Aug 14 doi: 10.1111/his.12172. PMID: 23944930

Therapy

Refractory and metastatic infantile fibrosarcoma harboring LMNA-NTRK1 fusion shows complete and durable response to crizotinib.
Bender J, Anderson B, Bloom DA, Rabah R, McDougall R, Vats P, Mody R
Cold Spring Harb Mol Case Stud 2019 Feb;5(1) Epub 2019 Feb 1 doi: 10.1101/mcs.a003376. PMID: 30709876Free PMC Article

Prognosis

RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
Motta M, Barresi S, Pizzi S, Bifano D, Lopez Marti J, Garrido-Pontnou M, Flex E, Bruselles A, Giovannoni I, Rotundo G, Fragale A, Tirelli V, Vallese S, Ciolfi A, Bisogno G, Alaggio R, Tartaglia M
J Pathol 2024 Jun;263(2):166-177. Epub 2024 Apr 17 doi: 10.1002/path.6272. PMID: 38629245
Somatic homozygous loss of SH2B3, and a non-Robertsonian translocation t(15;21)(q25.3;q22.1) with NTRK3 rearrangement, in an adolescent with progenitor B-cell acute lymphoblastic leukemia with the iAMP21.
Capela de Matos RR, Othman M, Ferreira GM, Monteso K, de Souza MT, Rouxinol M, Melo JB, Carreira IM, Abdelhay E, Liehr T, Ribeiro RC, Silva M
Cancer Genet 2022 Apr;262-263:16-22. Epub 2021 Dec 22 doi: 10.1016/j.cancergen.2021.12.003. PMID: 34974289
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
Searching for mammary analogue [corrected] secretory carcinoma of salivary gland among its mimics.
Pinto A, Nosé V, Rojas C, Fan YS, Gomez-Fernandez C
Mod Pathol 2014 Jan;27(1):30-7. Epub 2013 Jun 28 doi: 10.1038/modpathol.2013.84. PMID: 23807775

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
Searching for mammary analogue [corrected] secretory carcinoma of salivary gland among its mimics.
Pinto A, Nosé V, Rojas C, Fan YS, Gomez-Fernandez C
Mod Pathol 2014 Jan;27(1):30-7. Epub 2013 Jun 28 doi: 10.1038/modpathol.2013.84. PMID: 23807775

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