Comparative study of four technology platforms for detection of thyroid carcinoma NTRK fusion gene
10.13315/j.cnki.cjcep.2023.12.012
- VernacularTitle:四种技术平台检测甲状腺癌NTRK融合变异的比较
- Author:
Lingfeng CHEN
1
;
Jie LIN
;
Xunbin YU
;
Yijuan WU
;
Zhijie YOU
;
Xiaoyan CHEN
Author Information
1. 福建医科大学省立临床医学院/福建省立医院病理科,福州 350001
- Keywords:
thyroid neoplasms;
NTRK;
gene fusion;
quantita-tive reverse transcription PCR
- From:
Chinese Journal of Clinical and Experimental Pathology
2023;39(12):1470-1475
- CountryChina
- Language:Chinese
-
Abstract:
Purpose To study the consistency of NTRK fu-sion gene in the thyroid carcinoma detected by four technology platforms:immunohistochemistry,DNA-based NGS,FISH and qRT-PCR.Methods NTRK fusion gene was detected by FISH,immunohistochemical(IHC),DNA-based NGS and qRT-PCR in a same group of 40 clinical cases(among them,31 cases were thyroid cancer samples).Results In a group of 31 thyroid cancer cases detected by four techniques,compared with FISH,the sensitivity,specificity,positive predictive value(PPV),negative predictive value(NPV)and total coincidence rate(TCR)of IHC was 100%(9/9),90.9%(20/22),81.8%(9/11),100%(20/20),93.5%(29/31),respectively.The PPV of IHC was poor.The sensitivity,specificity,PPV,NPV and TCR of DNA-based NGS was 44.4%(4/9),100%(22/22),100%(4/4),81.5%(22/27),83.9%(26/31),respectively,and the sensitivity was poor.The TCR of qRT-PCR was 100%(31/31).Compared with FISH,Kappa value of IHC,DNA-based NGS and qRT-PCR was 0.853,0.532 and 1.000,respectively.Of the 40 clinical cases,the concordance between qRT-PCR and FISH was observed for 39 samples,for the qRT-PCR assay did not cover the NTRK fusion type(LM-NA:exon4-NTRK1:exon10).Compared with FISH,the coinci-dence rate of qRT-PCR was highest.Conclusion The RNA-based assay of qRT-PCR does have the advantages of high sensi-tivity and high specificity,and may be an optimal scheme for routine clinical detection of NTRK fusion variation in thyroid cancer in pathology department.
