PMID- 37188179
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230517
IS  - 2234-943X (Print)
IS  - 2234-943X (Electronic)
IS  - 2234-943X (Linking)
VI  - 13
DP  - 2023
TI  - Case Report: Identification of a novel NTRK3-AJUBA fusion co-existing with 
      ETV6-NTRK3 fusion in papillary thyroid carcinoma.
PG  - 1123812
LID - 10.3389/fonc.2023.1123812 [doi]
LID - 1123812
AB  - NTRK fusions are validated oncogenic drivers of various adult and pediatric tumor 
      types, including thyroid cancer, and serve as a therapeutic target. Recently, 
      tropomyosin receptor kinase (TRK) inhibitors, such as entrectinib and 
      larotrectinib, display promising therapeutic efficacy in NTRK-positive solid 
      tumors. Although some NTRK fusion partners have been identified in thyroid 
      cancer, the spectrum of NTRK fusion is not fully characterized. In this study, a 
      dual NTRK3 fusion was identified by targeted RNA-Seq in a 47-year-old female 
      patient with papillary thyroid carcinoma. The patient harbors a novel in-frame 
      fusion between NTRK3 exon 13 and AJUBA exon 2, co-existing with a known in-frame 
      fusion between ETV6 exon 4 and NTRK3 exon 14. The dual NTRK3 fusion was validated 
      by Sanger sequencing and fluorescence in situ hybridization (FISH) but lack TRK 
      protein expression as defined by pan-TRK immunohistochemistry (IHC). We supposed 
      the pan-TRK IHC result to be falsely negative. In conclusion, we present the 
      first case of a novel NTRK3-AJUBA fusion co-existing with a known ETV6-NTRK3 
      fusion in thyroid cancer. These findings extend the spectrum of translocation 
      partners in NTRK3 fusion, and the effect of dual NTRK3 fusion on TRK inhibitor 
      therapy and prognosis needs long-term follow-up.
CI  - Copyright (c) 2023 Yu, Zhao, Wang, Zhang, Qin, Zhang and Han.
FAU - Yu, Qing-Xiang
AU  - Yu QX
AD  - Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Province, 
      Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, China.
FAU - Zhao, Wen-Jun
AU  - Zhao WJ
AD  - Department of Thyroid & Bariatric Metabolic Surgery, Shanxi Bethune Hospital, 
      Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi, China.
FAU - Wang, He-Yue
AU  - Wang HY
AD  - Department of Thyroid & Bariatric Metabolic Surgery, Shanxi Bethune Hospital, 
      Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi, China.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Department of Thyroid & Bariatric Metabolic Surgery, Shanxi Bethune Hospital, 
      Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi, China.
FAU - Qin, Lan
AU  - Qin L
AD  - Clinical Genome Center, Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, 
      China.
FAU - Zhang, Lei
AU  - Zhang L
AD  - Key Laboratory of Digital Technology in Medical Diagnostics of Zhejiang Province, 
      Dian Diagnostics Group Co., Ltd., Hangzhou, Zhejiang, China.
FAU - Han, Jian-Li
AU  - Han JL
AD  - Department of Thyroid & Bariatric Metabolic Surgery, Shanxi Bethune Hospital, 
      Shanxi Academy of Medical Sciences, Third Hospital of Shanxi Medical University, 
      Taiyuan, Shanxi, China.
LA  - eng
PT  - Case Reports
DEP - 20230428
PL  - Switzerland
TA  - Front Oncol
JT  - Frontiers in oncology
JID - 101568867
PMC - PMC10176450
OTO - NOTNLM
OT  - ETV6-NTRK3
OT  - NGS
OT  - NTRK3-AJUBA
OT  - fusion
OT  - papillary thyroid carcinoma
COIS- Authors Q-xY, LQ, and LZ (6th author) were employed by Dian Diagnostics Group 
      Co., 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- 2023/05/16 01:09
MHDA- 2023/05/16 01:10
PMCR- 2023/01/01
CRDT- 2023/05/15 19:38
PHST- 2022/12/14 00:00 [received]
PHST- 2023/04/07 00:00 [accepted]
PHST- 2023/05/16 01:10 [medline]
PHST- 2023/05/16 01:09 [pubmed]
PHST- 2023/05/15 19:38 [entrez]
PHST- 2023/01/01 00:00 [pmc-release]
AID - 10.3389/fonc.2023.1123812 [doi]
PST - epublish
SO  - Front Oncol. 2023 Apr 28;13:1123812. doi: 10.3389/fonc.2023.1123812. eCollection 
      2023.