The potential diagnostic value of targeted sequencing for detecting endometrial carcinoma mutations using cytology specimens from lower genital tract
Objective This study aimed to investigate the feasibility of using cytology specimens from the lower genital tract to detect mutations in endometrial carcinoma(EC)and to identify a targeted gene panel suitable for Chinese women.Methods A total of 34 patients diagnosed with EC were recruited.Targeted sequencing was employed to detect mutations using cytology specimens from the lower genital tract(cytology specimen group)and surgically resected specimens(tumor group).The collection methods of cytology specimens from the lower genital tract included self-collection by patients through the vagina(vaginal self-sampling)and cervical specimens taken by doctors(clinician-sampling).The consistency of detected mutations between different sampling methods was compared.A targeted gene panel was selected based on the frequency of pathogenic mutations and literature research.Results The mutation detection rates were 93.55％(29/31)for cytology specimen group and 100％(34/34)for the tumor group(Kappa=0.860).However,the pathogenic mutation detection rate of cytology specimen group(54.84％,17/31)was lower than that of the tumor group(85.29％,29/34;P=0.007).Moreover,the pass rate of clinician-sampling(85.29％,29/34)was higher than that of self-sampling(52.94％,18/34;P=0.004).There were no statistically significant differences between these two methods regarding mutation detection rates(P=0.731)and pathogenic mutation detection rates(P=0.474).The cumulative pathogenic mutation rates of PIK3CA,PETN,TP53,ARID1A,CTNNB1,KRAS,MTOR,and NF1 were 93.75％and 100.00％for clinician-sampling and self-sampling,respectively.Conclusions Cytology specimens from the lower genital tract can be used for detecting mutations in EC.A small gene set,including PIK3CA,PETN,TP53,ARID1A,CTNNB1,KRAS,MTOR,and NF1,can achieve an excellent pathogenic mutation detection rate in Chinese EC patients.
万方数据
维普
