【摘要】 目的了解ret/PTC基因突变与超声、病理诊断在甲状腺乳头状癌诊断中的关系。方法术前超声检查,并在超声引导下细针穿刺,活体取材进行病理诊断和逆转录聚合酶链(RT-PCR)方法检测ret/PTC基因突变。结果在34例超声与病理诊断的甲状腺乳头状癌(PTC)患者中,16例分子生物学检测发现ret/PTC基因突变(47%),其中8例为PTC-1基因突变(50%),2例PTC-2基因突变(12.5%),2例PCT-3基因突变(12.5%),3例PTC-1和PTC-2突变同时存在(18.75%),1例PTC-1和PTC-3突变同时存在(6.25%)。结论ret/PTC基因重组突变可存在于散发的甲状腺乳头状癌中,主要表现PTC-1型。应用超声引导下细针穿刺与甲状腺乳头状癌基因突变的检测相结合是早期诊断甲状腺乳头状癌的有效方法。更多还原

【Abstract】 Objective To determine the relationship between ret/PTC gene mutation, ultrasonography and pathologic diagnosis in papillary thyroid carcinoma.. Methods Thirty-four patients underwent ultrasound-guided fine-needle biopsy before operation. The specimens obtained were examined by RT-polymerase chain reaction to detect ret/PTC gene mutation and Results The ret/PTC mutation was found in 16 patients (47%) by molecular biology examination, including PTC-1 mutation in 8 patients (50%), PTC-2 mutation in 2 patients (12.5%), and PTC-3 mutation in 2 patients (12.5%). Both PTC-1 and PTC-3 mutation were found in 3 patients (18.75%). Conclusion The ret/PTC gene mutation can be found in sporadic papillary thyroid carcinoma cases,and most of which are PTC-1 mutation. Ultrasound-guided fine-needle biopsy combined with detection of papillary thyroid carcinoma gene mutation is an effective method to diagnose papillary thyroid carcinoma in early stage.更多还原