中华内科杂志
中華內科雜誌
중화내과잡지
CHINESE JOURNAL OF INTERNAL MEDICINE
2012年
12期
987-992
,共6页
王萍%王颜刚%赵文娟%付浴东%王娈%王芳%赵世华
王萍%王顏剛%趙文娟%付浴東%王孌%王芳%趙世華
왕평%왕안강%조문연%부욕동%왕련%왕방%조세화
甲状腺肿瘤%血小板源性生长因子%BRAF基因突变%RET/PTC基因重排
甲狀腺腫瘤%血小闆源性生長因子%BRAF基因突變%RET/PTC基因重排
갑상선종류%혈소판원성생장인자%BRAF기인돌변%RET/PTC기인중배
Thyroid neoplasms%Platelet-derived growth factor%BRAF mutation%RET/PTC rearrangement
目的 观察青岛地区甲状腺乳头状癌(PTC) BRAF T1799A基因突变及RET/PTC基因重排的发生情况;检测癌组织中血小板源性生长因子B (PDGF-B)的表达,研究基因突变与PDGF-B的关系.方法 收集48例PTC患者新鲜PTC组织,采用PCR分别扩增BRAF、RET/PTC1、RET/PTC3基因,产物经测序证实.采用免疫组化方法检测肿瘤组织中PDGF-B的表达.结果 48例PTC中微小癌14例(29.2%);18例发生BRAF T1799A基因突变,突变率为37.5%;23例发生RET/PTC重排,重排率为47.9%,其中RET/PTC1有17例(35.4%),RET/PTC3有6例(12.5%),未见两种重排形式共存;在乳头状非微小癌中有6例同时发生BRAF和RET/PTC变异(12.5%).发生BRAF T1799A基因突变者的PDGF-B表达强度高于非突变者;发生RET/PTC3重排者的PDGF-B表达强度高于RET/PTC1患者(P<0.05).肿瘤分期越高,PDGF-B的表达越强(P<0.01).结论 (1)青岛地区PTC患者BRAF T1799A基因突变和RET/PTC基因重排的发生率较高.(2) BRAF T1799A及RET/PTC3基因变异阳性的PTC患者较阴性者预后不良.(3)BRAF和RET/PTC基因变异可能通过增强PDGF-B表达影响肿瘤的发生、发展,两种基因重叠变异预示肿瘤预后不良.
目的 觀察青島地區甲狀腺乳頭狀癌(PTC) BRAF T1799A基因突變及RET/PTC基因重排的髮生情況;檢測癌組織中血小闆源性生長因子B (PDGF-B)的錶達,研究基因突變與PDGF-B的關繫.方法 收集48例PTC患者新鮮PTC組織,採用PCR分彆擴增BRAF、RET/PTC1、RET/PTC3基因,產物經測序證實.採用免疫組化方法檢測腫瘤組織中PDGF-B的錶達.結果 48例PTC中微小癌14例(29.2%);18例髮生BRAF T1799A基因突變,突變率為37.5%;23例髮生RET/PTC重排,重排率為47.9%,其中RET/PTC1有17例(35.4%),RET/PTC3有6例(12.5%),未見兩種重排形式共存;在乳頭狀非微小癌中有6例同時髮生BRAF和RET/PTC變異(12.5%).髮生BRAF T1799A基因突變者的PDGF-B錶達彊度高于非突變者;髮生RET/PTC3重排者的PDGF-B錶達彊度高于RET/PTC1患者(P<0.05).腫瘤分期越高,PDGF-B的錶達越彊(P<0.01).結論 (1)青島地區PTC患者BRAF T1799A基因突變和RET/PTC基因重排的髮生率較高.(2) BRAF T1799A及RET/PTC3基因變異暘性的PTC患者較陰性者預後不良.(3)BRAF和RET/PTC基因變異可能通過增彊PDGF-B錶達影響腫瘤的髮生、髮展,兩種基因重疊變異預示腫瘤預後不良.
목적 관찰청도지구갑상선유두상암(PTC) BRAF T1799A기인돌변급RET/PTC기인중배적발생정황;검측암조직중혈소판원성생장인자B (PDGF-B)적표체,연구기인돌변여PDGF-B적관계.방법 수집48례PTC환자신선PTC조직,채용PCR분별확증BRAF、RET/PTC1、RET/PTC3기인,산물경측서증실.채용면역조화방법검측종류조직중PDGF-B적표체.결과 48례PTC중미소암14례(29.2%);18례발생BRAF T1799A기인돌변,돌변솔위37.5%;23례발생RET/PTC중배,중배솔위47.9%,기중RET/PTC1유17례(35.4%),RET/PTC3유6례(12.5%),미견량충중배형식공존;재유두상비미소암중유6례동시발생BRAF화RET/PTC변이(12.5%).발생BRAF T1799A기인돌변자적PDGF-B표체강도고우비돌변자;발생RET/PTC3중배자적PDGF-B표체강도고우RET/PTC1환자(P<0.05).종류분기월고,PDGF-B적표체월강(P<0.01).결론 (1)청도지구PTC환자BRAF T1799A기인돌변화RET/PTC기인중배적발생솔교고.(2) BRAF T1799A급RET/PTC3기인변이양성적PTC환자교음성자예후불량.(3)BRAF화RET/PTC기인변이가능통과증강PDGF-B표체영향종류적발생、발전,량충기인중첩변이예시종류예후불량.
Objective To investigate the prevalence of BRAF T1799A mutation and RET/PTC rearrangement in Qingdao and detect the expression of platelet-derived growth factor B (PDGF-B) in order to investigate the correlation between gene mutation and PDGF-B.Methods Fresh tissue from 48 papillary thyroid carcinomas (PTC) patients was examined for BRAF mutation RET rearrangements (RET/PTC1 and RET/PTC3) by PCR,followed by direct-sequence analysis.The expression of PDGF was analyzed by immunohistochemistry.Results Among the 48 patients,14 (29.2%) were micro PTC; 18 (37.5%) had BRAF T1799A mutations and 23(47.9%) had RET/PTC rearrangement.There were 17 (35.4%) cases of RET/PTC1 and 6 (12.5%) of RET/PTC3,with no multiple rearrangements.Both BRAF T1799A mutation and RET/PTC rearrangement were present in 6 (12.5%) cases of non-micro PTC.The level of PDGF-B expression in BRAF T1799A positive was higher than that in the negative,and the level of PDGF-B expression in RET/PTC3 was higher than that in RET/PTC1 (P < 0.05).The more advanced neoplasm stage was,the stranger PDGF-B expression was.Conclusions The incidence of BRAF T1799A mutation and RET/PTC rearrangement is higher in Qingdao.BRAF T1799A mutation and RET/PTC3 rearrangement in patients suggests a poorer prognosis than the negative one.The BRAF T1799A mutation and RET/PTC3 rearrangement may strengthen the expression of PDGF-B.Both variations suggest a poor prognosis.