The Significance Of Genetic Testing In Fine Needle Aspiration Samples For Diagnosis And Treatment Of Papillary Thyroid Carcinoma

Objective:The clinical and pathological data of patients who had got fine needle aspiration and genetic testing in FNA samples(including BRAF^V600E and full-cycle genetic testing of thyroid cancer),and thyroidectomy were retrospectively analyzed to investigate the significance of genetic testing in FNA samples for the diagnosis and treatment of papillary thyroid carcinoma.Contents:1.The clinical-pathological data of 163 patients who underwent FNA and BRAF^V600E?qPCR?genetic testing in FNA samples from the General Surgery Department of Tianjin Medical University General Hospital from December 2017 to January 2019,with postoperative pathology results of papillary thyroid carcinoma were harvested retrospectively.Two groups were included:BRAF^V600E mutation group?160 cases?and BRAF^V600E600E wild type group.The clinical-pathological data of the two groups of patients were analyzed.2.Data was collected from 71 cases undergone thyroid surgery,including 67patients with PTC,2 patients with nodular goiter,and 1 patient with Hashimoto's thyroiditis,and 1 patient with thyroid adenoma accompanied with Hashimoto's thyroiditis also accepted the FNA and the full-cycle genetic testing of thyroid cancer?replaced by multi-gene testing?in FNA samples from the General Surgery Department of Tianjin Medical University General Hospital From May 2018 to September 2018.Among the them,some patients also had BRAF^V600E600E mutation testing with qPCR.The sensitivity,positive predictive value,and negative predictive value of different diagnostic methods were evaluated.Results:1.All of the patients are AJCC?8th edition?TNM I and II stage.Among them,ACR TI-RADS 4 and 5 accounted for 99.38%?162/163?.The mutation rate of BRAF^V600E gene was 79.75%?130/163?.In the comparison of two groups,BRAF^V600E600E mutation was significantly associated with extrathyroidal invasion and higher thyroid cancer recurrence risk after initial treatment?P=0.014,P=0.012,respectively?,but irrelevant to tumor diameter?P=0.390?,number of lesions?P=0.888?and central lymph node metastasis?P=0.943?.The patient's factors,including gender,age and whether have Hashimoto's thyroiditis were not associated with the BRAF^V600E600E mutation?P value are 0.965,0.825 and 0.904 respectively?.2.As a diagnostic tool,the sensitivity of fine needle aspiration cytology is 76.12%,the PPV is 96.23%,and the NPV is 11.11%.The sensitivity of BRAF^V600E600E genetic testing?qPCR?is 87.28%,the PPV is 100%,and the NPV is 30.00%.The sensitivity of multi-gene testing is 88.41%,the PPV is 96.83%,and the NPV is20.00%.The sensitivity of FNA combined with BRAF^V600E genetic testing?qPCR?is95.16%,the PPV is 98.33%,and the NPV was 40.00%.The sensitivity of FNA combined with multi-gene testing is 95.52%,the PPV is 95.52%,and the NPV is25.00%.There is no statistically significant difference between the sensitivity of BRAF^V600E testing?qPCR?and the multi-gene tests for diagnosing PTC?P=0.358?.Conclusions:1.For early papillary thyroid carcinoma?AJCC 8TH TNM I and II?,when the BRAF^V600E gene is mutated,tumor is more likely to invade the extrathyroidal tissue,which increases the recurrence risk of PTC.Thus,such patients should be followed-up closer and accept more aggressive treatment after surgery;2.The result of BRAF^V600E mutation analysis was a useful tool in management of PTC;3.PTC's occurrence is associated with multiple genes.In addition to the BRAF ^V600E600E gene mutation,RET/PTC rearrangement may indicate the presence of PTC,while other genes have different effects on the occurrence and development of PTC,,while other genes'diagnostic efficacy is not yet clear,which may have different effects on the occurrence and development of PTC;4.At present,The BRAF^V600E gene testing is superior in cost-effectiveness in the diagnosis of Chinese PTC.Multi-gene testing has its unique advantages,but further researches are needed.