CAJ | 학술논문

目的分析BRAF基因V600E突变在中国汉族人群甲状腺病变中的表达情况.方法 240例甲状腺病变中,乳头状癌(PTC)129例(其中经典型PTC 121例,滤泡型PTC 8例).滤泡癌12例,髓样癌4例,甲状腺隙瘤30例,结节性甲状腺肿30例,Lp状腺乳头状增生35例.采用常规酚.氯仿法抽提87例新鲜组织样本的总DNA,改良试剂盒法抽提153例石蜡组织样本的总DNA,经过PCR、测序,检测BRAF V600E突变.结果在240例甲状腺病变中,BRAF V6OOE突变61例,发生率为25.4%.61例BRAF V600E突,变患者均为PTC,占PTC的47.3%.BRAF V600E突变在经典型PTC中的表达率(49.6%)与在滤泡型PTC中的表达率(12.5%)比较,差异有统计学意义(P<0.05).BRAF V600E突变与PTC患者临床病理参数间的差异无统计学意义(P>0.05).结论 BRAFV600E突变与PTC的发生、发展可能有着重要联系,BRAF V600E突变可以作为PTC诊断的特异性标记;改良的试剂盒法抽提石蜡组织DNA具有高效、简便、价格栩对低廉的优点.
목적 분석BRAF기인V600E돌변재중국한족인군갑상선병변중적표체정황.방법 240례갑상선병변중,유두상암(PTC)129례(기중경전형PTC 121례,려포형PTC 8례).려포암12례,수양암4례,갑상선극류30례,결절성갑상선종30례,Lp상선유두상증생35례.채용상규분.록방법추제87례신선조직양본적총DNA,개량시제합법추제153례석사조직양본적총DNA,경과PCR、측서,검측BRAF V600E돌변.결과 재240례갑상선병변중,BRAF V6OOE돌변61례,발생솔위25.4%.61례BRAF V600E돌,변환자균위PTC,점PTC적47.3%.BRAF V600E돌변재경전형PTC중적표체솔(49.6%)여재려포형PTC중적표체솔(12.5%)비교,차이유통계학의의(P<0.05).BRAF V600E돌변여PTC환자림상병리삼수간적차이무통계학의의(P>0.05).결론 BRAFV600E돌변여PTC적발생、발전가능유착중요련계,BRAF V600E돌변가이작위PTC진단적특이성표기;개량적시제합법추제석사조직DNA구유고효、간편、개격허대저렴적우점.
Objective To evaluate the expression of BRAF V600E mutation in 240 Chinese patients with thyroid lesions. Methods Two hundred and forty Chinese patients with thyroid lesions, including 129 papillary thyroid carcinomas (PTC) , 12 follicular carcinomas, 4 medullary carcinomas, 30 adenomas, 30 nodular goiters, and 35 papillary hyperplasia. DNA was extracted from thyroid biopsy and paraffin embedded thyroid tissues, and the expression of BRAF V600E mutation was detected by polymerase chain reaction and DNA sequencing assays. Results The presence of BRAF V600E mutation was found in 61 of the total group of 240 cases (25. 4%). It was only detected in PTC (47. 3%), and not detected in other types of malignant and benign thyroid lesions. There was a statistically significant difference between the expression of BRAF V600E mutation in classic type PTC (49. 6% ) and in follicular type PTC (12. 5% ,P <0. 05) , but statistical data did not show any correlation between BRAF V600E mutation and clinicopathologic parameters in PTC (P > 0. 05). Conclusions BRAF V600E mutation has a significant correlation with PTC and the detection of BRAF V600E mutation may be used as an important prognostic marker of PTC. Our new method of DNA extraction from paraffin embedded tissues is efficient and inexpensive.