中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2009年
3期
310-313
,共4页
龚日祥%周扬%罗书画%张林%周斌
龔日祥%週颺%囉書畫%張林%週斌
공일상%주양%라서화%장림%주빈
BRAF基因%突变%甲状腺乳头状癌
BRAF基因%突變%甲狀腺乳頭狀癌
BRAF기인%돌변%갑상선유두상암
BRAF gene%mutation%papillary thyroid carcinoma
目的 了解甲状腺乳头状癌(papillary thyroid carcinoma,PTC)BRAF基因T1799A点突变的情况与临床病理学特征的关系.方法 应用聚合酶链反应及DNA直接测序法对43例PTC患者,20例非PTC甲状腺病变患者及40份正常甲状腺组织对照的新鲜标本进行BRAF基因检测.分析BRAF基因突变与性别、发病年龄、原发灶大小、甲状腺包膜外浸润、颈淋巴结转移及远处转移等临床病理学特征的关系.结果 43例PTC中1 7例检出BRAF基因T1799A点突变.检出率为39.5%,而在非PTC甲状腺病变患者和40份正常甲状腺组织未发现T1799A点突变.BRAF基因突变与PTC甲状腺包膜外浸润及颈淋巴结转移密切相关(P<0.05及P<0.05),与性别、发病年龄、原发灶大小及远处转移无关.结论 BRAF基因突变与颈淋巴结转移和甲状腺包膜外浸润密切相关,突变可能增加PTC的侵袭性并影响预后.
目的 瞭解甲狀腺乳頭狀癌(papillary thyroid carcinoma,PTC)BRAF基因T1799A點突變的情況與臨床病理學特徵的關繫.方法 應用聚閤酶鏈反應及DNA直接測序法對43例PTC患者,20例非PTC甲狀腺病變患者及40份正常甲狀腺組織對照的新鮮標本進行BRAF基因檢測.分析BRAF基因突變與性彆、髮病年齡、原髮竈大小、甲狀腺包膜外浸潤、頸淋巴結轉移及遠處轉移等臨床病理學特徵的關繫.結果 43例PTC中1 7例檢齣BRAF基因T1799A點突變.檢齣率為39.5%,而在非PTC甲狀腺病變患者和40份正常甲狀腺組織未髮現T1799A點突變.BRAF基因突變與PTC甲狀腺包膜外浸潤及頸淋巴結轉移密切相關(P<0.05及P<0.05),與性彆、髮病年齡、原髮竈大小及遠處轉移無關.結論 BRAF基因突變與頸淋巴結轉移和甲狀腺包膜外浸潤密切相關,突變可能增加PTC的侵襲性併影響預後.
목적 료해갑상선유두상암(papillary thyroid carcinoma,PTC)BRAF기인T1799A점돌변적정황여림상병이학특정적관계.방법 응용취합매련반응급DNA직접측서법대43례PTC환자,20례비PTC갑상선병변환자급40빈정상갑상선조직대조적신선표본진행BRAF기인검측.분석BRAF기인돌변여성별、발병년령、원발조대소、갑상선포막외침윤、경림파결전이급원처전이등림상병이학특정적관계.결과 43례PTC중1 7례검출BRAF기인T1799A점돌변.검출솔위39.5%,이재비PTC갑상선병변환자화40빈정상갑상선조직미발현T1799A점돌변.BRAF기인돌변여PTC갑상선포막외침윤급경림파결전이밀절상관(P<0.05급P<0.05),여성별、발병년령、원발조대소급원처전이무관.결론 BRAF기인돌변여경림파결전이화갑상선포막외침윤밀절상관,돌변가능증가PTC적침습성병영향예후.
Objective To study the relationship between BRAF mutation and clinieopathological features in papillary thyroid carcinoma (PTC). Methods Fresh samples were examined for the presence of BRAF mutations in 43 patients with PTC and 20 patients with non-PTC thyroid disease and 40 normal thyroid tissues by polymerase chain reaction (PCR) and direct sequencing. The relationship between BRAF mutation and clinicopathological features was studied. Results BRAF mutation was detected in 39. 5% (17/43) of PTC samples, in 0 of non-PTC thyroid disease samples and normal thyroid tissues. Significant association was seen between BRAF mutation and both extrathyroidal invasion and cervical lymph node metastasis (P< 0. 05, P<0. 05). There was no significant relationship between BRAF mutation and gender, age at the time of diagnosis, tumor size and distant metastasis. Conclusion BRAF mutation is associated with extrathyroidal invasion and lymph node metastasis. It may increase the ability of invasion and metastasis of PTC and have influence on prognosis.