温州医科大学学报
溫州醫科大學學報
온주의과대학학보
Journal of Wenzhou Medical University
2015年
9期
646-651,655
,共7页
杨帆%蔡业丰%金浪平%张筱骅%瞿金妙
楊帆%蔡業豐%金浪平%張篠驊%瞿金妙
양범%채업봉%금랑평%장소화%구금묘
直乙交界%肠肿瘤%临床病理特征%KRAS基因%BRAF基因
直乙交界%腸腫瘤%臨床病理特徵%KRAS基因%BRAF基因
직을교계%장종류%림상병리특정%KRAS기인%BRAF기인
rectosigmoid%intestinal neoplasms%clinicopathological characteristic%KRAS gene%BRAF gene
目的:检测直乙交界处肠癌患者KRAS和BRAF基因的突变特征,分析KRAS和BRAF突变与患者临床病理特征的相关性及其临床意义。方法:收集138例直乙交界处肠癌患者的肿瘤组织,运用直接测序法检测组织标本中KRAS基因外显子2第12、第13位密码子,外显子3第61位密码子以及BRAF基因外显子15的突变状态,分析该2个基因突变与临床病理特征的相关性。结果:138例样本中,KRAS和BRAF的突变率为34.05%(47/138)和5.07%(7/138)。KRAS基因有9种突变类型,其中包括1种全新的突变类型。BRAF基因全为V600E突变。在直乙交界处肠癌患者中,KRAS基因在男性(P=0.041)、远处转移(P=0.002)、高临床分期(P=0.047)的患者中突变率更高,BRAF基因突变更常见于肿瘤多发(P=0.003)、低分化(P<0.001)的患者中, KRAS和BRAF与年龄、肿块大小、肿瘤病理形态、病理类型、浸润深度、淋巴结转移、脉管浸润、神经浸润等临床病理特征均无显著相关性。结论:直乙交界处肠癌有它的特殊性,KRAS基因在男性、远处转移、临床分期晚期的患者中突变率更高,BRAF基因在多发、低分化的患者中突变率更高。KRAS、BRAF基因在不同部位的结直肠癌中改变情况并不一致。
目的:檢測直乙交界處腸癌患者KRAS和BRAF基因的突變特徵,分析KRAS和BRAF突變與患者臨床病理特徵的相關性及其臨床意義。方法:收集138例直乙交界處腸癌患者的腫瘤組織,運用直接測序法檢測組織標本中KRAS基因外顯子2第12、第13位密碼子,外顯子3第61位密碼子以及BRAF基因外顯子15的突變狀態,分析該2箇基因突變與臨床病理特徵的相關性。結果:138例樣本中,KRAS和BRAF的突變率為34.05%(47/138)和5.07%(7/138)。KRAS基因有9種突變類型,其中包括1種全新的突變類型。BRAF基因全為V600E突變。在直乙交界處腸癌患者中,KRAS基因在男性(P=0.041)、遠處轉移(P=0.002)、高臨床分期(P=0.047)的患者中突變率更高,BRAF基因突變更常見于腫瘤多髮(P=0.003)、低分化(P<0.001)的患者中, KRAS和BRAF與年齡、腫塊大小、腫瘤病理形態、病理類型、浸潤深度、淋巴結轉移、脈管浸潤、神經浸潤等臨床病理特徵均無顯著相關性。結論:直乙交界處腸癌有它的特殊性,KRAS基因在男性、遠處轉移、臨床分期晚期的患者中突變率更高,BRAF基因在多髮、低分化的患者中突變率更高。KRAS、BRAF基因在不同部位的結直腸癌中改變情況併不一緻。
목적:검측직을교계처장암환자KRAS화BRAF기인적돌변특정,분석KRAS화BRAF돌변여환자림상병리특정적상관성급기림상의의。방법:수집138례직을교계처장암환자적종류조직,운용직접측서법검측조직표본중KRAS기인외현자2제12、제13위밀마자,외현자3제61위밀마자이급BRAF기인외현자15적돌변상태,분석해2개기인돌변여림상병리특정적상관성。결과:138례양본중,KRAS화BRAF적돌변솔위34.05%(47/138)화5.07%(7/138)。KRAS기인유9충돌변류형,기중포괄1충전신적돌변류형。BRAF기인전위V600E돌변。재직을교계처장암환자중,KRAS기인재남성(P=0.041)、원처전이(P=0.002)、고림상분기(P=0.047)적환자중돌변솔경고,BRAF기인돌변경상견우종류다발(P=0.003)、저분화(P<0.001)적환자중, KRAS화BRAF여년령、종괴대소、종류병리형태、병리류형、침윤심도、림파결전이、맥관침윤、신경침윤등림상병리특정균무현저상관성。결론:직을교계처장암유타적특수성,KRAS기인재남성、원처전이、림상분기만기적환자중돌변솔경고,BRAF기인재다발、저분화적환자중돌변솔경고。KRAS、BRAF기인재불동부위적결직장암중개변정황병불일치。
Objective: To identify the mutation rate and mutation feature of KRAS and BRAF gene in patients with rectosigmoid carcinoma, to analyse the association between KRAS/BRAF mutations and patients’ clinicopathological characteristics, and discuss the clinical signiifcance of KRAS/BRAF mutations.Methods:138 patients with rectosigmoid carcinoma were collected. DNA sequencing was used to detect mutations in KRAS (codons12, 13 of exon2 and codons 61 of exon3) and BRAF (exon15). Statistically analyzing the relation-ships between gene mutations and clinicopathological characteristic.Results: In 138 cases, the mutation rate of KRAS and BRAF was 34.05% (47/138) and 5.07% (7/138). 9 mutation types were found in KRAS, including a new mutation type. BRAF mutation was all belong to V600E mutation. In patients with rectosigmoid carci-noma, KRAS mutation rate was higher in male (P=0.041), distant metastasis (P=0.002) and high clinical stages (P=0.047). BRAF mutation rate was higher in multiple (P=0.003) and poorly differentiate (P=0.001) carcinoma. No signiifcant associations were observed between KRAS/BRAF mutations and age, tumor size, pathomorphism, pathological type, depth of invasion, lymph node metastasis, vessel inifltration and nervous inifltration (P>0.05). Conclusion: Rectosigmoid carcinoma is unique. KRAS mutation rate is higher in male, distant metastasis and high clinical stages carcinoma. BRAF mutation rate is higher in multiple and poorly differentiate carcinoma. KRAS and BRAF mutations are variant in different location of colorectal cancer.