Translated Title

Next-generation sequencing analysis of genetic profiling and its relationship with clinicopathologic characteristics of thyroid carcinoma:a single-center retrospec-tive cohort study

Translated Abstract

Purpose　To　investigate　the　relationships　between　the　genetic　variations　and　clinicopathological　fea-tures　of　thyroid　carcinoma　in　a　single-center　cohort.Methods　The　correlation　between　genetic　profiling　and　clinico-pathologic　characteristics　of　thyroid　carcinomas　detected　by　next-generation　sequencing　was　analyzed.Results　93.7％of　238　cases　of　thyroid　cancer　had　Class　Ⅰ　or　Class　Ⅱ　variations.Compared　with　TCGA　cohort,the　single-center　of　pa-tients　with　papillary　thyroid　cancer(PTC)were　younger(44.4±12.4　vs　46.8±15.5,P=0.043),and　the　rate　of　lymph　node　metastasis　was　higher(57.5％vs　49.2％,P=0.046).The　frequency　of　BRAF　gene　mutation　was　signifi-cantly　higher(82.4％vs　59.7％,P＜0.001),that　of　RAS　gene　mutation(2.3％vs　12.9％,P＜0.001)and　TERT　promoter　mutation　was　lower(1.8％vs　9.4％,P＜0.001).There　were　no　differences　in　the　incidences　of　RET　fusion(5.4％vs　6.8％,P=0.484)and　NTRK　fusion(4.1％vs　2.1％,P=0.127).Gene　mutations　were　detected　in　210　of　221(95.0％)patients　with　PTC,including　BRAF(182/221,82.4％),RET　fusion(12/221,5.4％),NTRK　fusion(9/221,4.1％),FGFR　amplification(6/221,2.7％),CCND1　amplification(6/221,2.7％),FGFR19　am-plification(6/221,2.7％),RAS(5/221,2.3％),PIK3CA(5/221,2.3％),and　TERT(4/221,1.8％).NTRK　fusion　was　associated　with　younger　age(P=0.049)and　higher　T　stage(P=0.005),while　TERT　promoter　mutation　was　associated　with　older　age(P=0.003)and　higher　T　stage(P=0.001).8.6％(19/221)of　thyroid　papillary　car-cinoma　had　at　least　two　driver　gene　variants　and　tended　to　occur　in　patients　with　older　age(P=0.001)and　higher　T　tage(P=0.001).Higher　mutation　allele　fraction(MAF)of　BRAF　was　associated　with　T　stage(P＜0.001)and　N　stage(P=0.017).Conclusion　Chinese　patients　with　papillary　thyroid　carcinomapatients　show　unique　genetic　vari-ant　characteristics,and　the　patients　with　NTRK　fusion,TERT　promoter　mutation,multiple　driver　gene　variations,or　high　MAF　of　BRAF　show　specific　clinicopathologic　features.

Translated Keyword

clinico-pathologic characteristics
genetic variation
next-generation sequencing
papillary thyroid carcinoma
thyroid neoplasm

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Access Number

WF:perioarticallcysyblxzz202501012

Language

Chinese

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