PMID- 34710798
OWN - NLM
STAT- MEDLINE
DCOM- 20211224
LR  - 20211224
IS  - 2210-7762 (Print)
VI  - 258-259
DP  - 2021 Nov
TI  - The oncogenic roles of NTRK fusions and methods of molecular diagnosis.
PG  - 110-119
LID - S2210-7762(21)00216-7 [pii]
LID - 10.1016/j.cancergen.2021.10.005 [doi]
AB  - The NTRK gene family is composed of NTRK1, NTRK2, and NTRK3, which encode three 
      tropomyosin-receptor kinases, belonging to a class of tyrosine kinase receptors. 
      These proteins are known to play roles in cell proliferation, differentiation, 
      apoptosis, and survival. Fusions involving the NTRK genes are long known as 
      drivers in many tumors. Although they occur in less than 5% of all malignancies, 
      their occurrence in a great diversity of tumors has been documented. Several rare 
      tumors including infantile fibrosarcoma, secretory breast carcinoma, and mammary 
      analogue secretory carcinoma are accompanied by NTRK fusions in more than 90% of 
      cases, demonstrating a diagnostic value for the NTRK fusion testing in these 
      tumors. More recently, the development of effective targeted therapies has 
      created a demand for their detection in all malignancies. A variety of approaches 
      are available for testing including immunohistochemistry, fluorescence in situ 
      hybridization (FISH), reverse transcription polymerase chain reaction (RT-PCR), 
      and DNA- and RNA-based next-generation sequencing (NGS). This article reviews the 
      molecular biology and tumorigenesis of NTRK fusions, their prevalence and 
      clinical significance with a focus on available methods for fusion detection. The 
      advantages and limitations of different technologies, the best practice 
      algorithms for NTRK fusion detection, and the future direction of NTRK testing 
      are also discussed.
CI  - Copyright (c) 2021. Published by Elsevier Inc.
FAU - Aref-Eshghi, Erfan
AU  - Aref-Eshghi E
AD  - Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, 
      Children's Hospital of Philadelphia, Philadelphia, PA, United States.
FAU - Lin, Fumin
AU  - Lin F
AD  - Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, 
      Children's Hospital of Philadelphia, Philadelphia, PA, United States.
FAU - Li, Marilyn M
AU  - Li MM
AD  - Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, 
      Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department 
      of Pathology and Laboratory Medicine, Perelman School of Medicine, University of 
      Pennsylvania, Philadelphia, PA, United States; Department of Pediatrics, 
      Children's Hospital of Philadelphia, Philadelphia, PA, United States.
FAU - Zhong, Yiming
AU  - Zhong Y
AD  - Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics, 
      Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department 
      of Pathology and Laboratory Medicine, Perelman School of Medicine, University of 
      Pennsylvania, Philadelphia, PA, United States. Electronic address: 
      zhongy1@chop.edu.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20211018
PL  - United States
TA  - Cancer Genet
JT  - Cancer genetics
JID - 101539150
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - EC 2.7.10.1 (Receptor, trkA)
RN  - EC 2.7.10.1 (Receptor, trkB)
RN  - EC 2.7.10.1 (Receptor, trkC)
SB  - IM
MH  - Animals
MH  - Biomarkers, Tumor/*genetics
MH  - Humans
MH  - Neoplasms/*diagnosis/genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Prognosis
MH  - Receptor, trkA/*genetics
MH  - Receptor, trkB/*genetics
MH  - Receptor, trkC/*genetics
OTO - NOTNLM
OT  - Carcinogenesis
OT  - FISH
OT  - Immunohistochemistry
OT  - NGS
OT  - NTRK
COIS- Declaration of Competing Interest The authors declare that they have no known 
      competing financial interests or personal relationships that could have appeared 
      to influence the work reported in this paper.
EDAT- 2021/10/29 06:00
MHDA- 2021/12/25 06:00
CRDT- 2021/10/28 20:28
PHST- 2021/07/02 00:00 [received]
PHST- 2021/09/23 00:00 [revised]
PHST- 2021/10/16 00:00 [accepted]
PHST- 2021/10/29 06:00 [pubmed]
PHST- 2021/12/25 06:00 [medline]
PHST- 2021/10/28 20:28 [entrez]
AID - S2210-7762(21)00216-7 [pii]
AID - 10.1016/j.cancergen.2021.10.005 [doi]
PST - ppublish
SO  - Cancer Genet. 2021 Nov;258-259:110-119. doi: 10.1016/j.cancergen.2021.10.005. 
      Epub 2021 Oct 18.