PMID- 36531047
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20221221
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 12
DP  - 2022
TI  - Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial 
      tumor.
PG  - 1064817
LID - 10.3389/fonc.2022.1064817 [doi]
LID - 1064817
AB  - Neurotrophic tyrosine receptor kinase (NTRK) rearrangements are oncogenic drivers 
      of various types of adult and pediatric tumors, including gliomas. However, NTRK 
      rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel 
      NTRK2 rearrangement in a 24-year-old female with dysembryoplastic neuroepithelial 
      tumor (DNT), a circumscribed WHO grade I benign tumor associated with epilepsy. 
      By utilizing targeted RNA next-generation sequencing (NGS), fluorescence in situ 
      hybridization (FISH), reverse transcriptase PCR (RT-PCR), and Sanger sequencing, 
      we verified an in-frame fusion between NTRK2 and the lipoma HMGIC fusion 
      partner-like 3 (LHFPL3). This oncogenic gene rearrangement involves 5' LHFPL3 and 
      3' NTRK2, retaining the entire tyrosine kinase domain of NTRK2 genes. Moreover, 
      the targeted DNA NGS analysis revealed an IDH1 (p.R132H) mutation, a surprising 
      finding in this type of tumor. The pathogenic mechanism of the LHFPL3::NTRK2 in 
      this case likely involves aberrant dimerization and constitutive activation of 
      RTK signaling pathways.
CI  - Copyright (c) 2022 Chen, Zhu, Wang, Dai, Chen, Chen, Zhou, Dai, Zhao, Xiao and Lan.
FAU - Chen, Yanming
AU  - Chen Y
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Zhu, Qing
AU  - Zhu Q
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Wang, Ye
AU  - Wang Y
AD  - Heath Management Center, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Dai, Xiaoxiao
AU  - Dai X
AD  - Department of Pathology, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Chen, Ping
AU  - Chen P
AD  - Molecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, 
      China.
FAU - Chen, Ailin
AU  - Chen A
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Zhou, Sujuan
AU  - Zhou S
AD  - Molecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, 
      China.
AD  - Pathology and Pathophysiology, Soochow University Medical College, Suzhou, China.
FAU - Dai, Chungang
AU  - Dai C
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
FAU - Zhao, Shengbin
AU  - Zhao S
AD  - Molecular Genetics Laboratory, Suzhou Sano Precision Medicine Ltd., Suzhou, 
      China.
FAU - Xiao, Sheng
AU  - Xiao S
AD  - Department of Pathology, Brigham and Women's Hospital, Boston, BS, United States.
FAU - Lan, Qing
AU  - Lan Q
AD  - Department of Neurosurgery, The Second Affiliated Hospital of Soochow University, 
      Suzhou, China.
LA  - eng
PT  - Case Reports
DEP - 20221201
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC9752035
OTO - NOTNLM
OT  - IDH1
OT  - LHFPL3
OT  - NTRK2
OT  - dysembryoplastic neuroepithelial tumors
OT  - next-generation sequencing
COIS- Authors PC, SuZ, and ShZ were employed by Suzhou Sano Precision Medicine Ltd. The 
      remaining authors declare that the research was conducted in the absence of any 
      commercial or financial relationships that could be construed as a potential 
      conflict of interest.
EDAT- 2022/12/20 06:00
MHDA- 2022/12/20 06:01
PMCR- 2022/01/01
CRDT- 2022/12/19 03:43
PHST- 2022/10/08 00:00 [received]
PHST- 2022/11/17 00:00 [accepted]
PHST- 2022/12/19 03:43 [entrez]
PHST- 2022/12/20 06:00 [pubmed]
PHST- 2022/12/20 06:01 [medline]
PHST- 2022/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2022.1064817 [doi]
PST - epublish
SO  - Front Oncol. 2022 Dec 1;12:1064817. doi: 10.3389/fonc.2022.1064817. eCollection 
      2022.