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目的:探讨手术切除肺腺癌各亚型EGFR和ALK基因状态分布。方法:应用ARMS方法检测手术切除肺腺癌石蜡组织中EGFR基因突变和ALK融合基因情况。结果:276例肺腺癌手术样本中,EGFR基因突变率为54.71%(151/276),其中19del为28.99%(80/276),L858R为23.19%(64/276),20-ins为0.72%(2/276),L861Q为0.72%(2/276),G719X为1.09%(3/276),S768I为0.36%(1/276)和T790M为0.72%(2/276),其中包含G719X+S768I,19del+T790M,L858R+T790M各1例,ALK基因融合阳性率为5.80%(12/207),在肺腺癌各亚型中EGFR基因突变附壁状腺癌,腺泡状腺癌,乳头状腺癌,实体状腺癌和浸润性黏液腺癌之间差异有统计学意义(P<0.001,P=0.009,P=0.023,P<0.001和P=0.030),与其他类型之间差异均无统计学意义(P>0.05);在肺腺癌各亚型中ALK融合基因突变各亚型之间差异均无统计学意义(P>0.05)。结论:肺腺癌组织学亚型与EGFR基因突变有关,附壁状腺癌、腺泡状腺癌和乳头状腺癌出现EGFR基因突变比其他亚型更加明显。
Objective: To investigate the distribution of EGFR and ALK genes in various subtypes of resected lung adenocarcinoma. Methods: The ARMS method was used to detect EGFR gene mutation and ALK fusion gene in paraffin-embedded tissues of surgically resected lung adenocarcinoma. Results: In 276 cases of lung adenocarcinoma, the mutation rate of EGFR gene was 54.71% (151/276), of which 19del was 28.99% (80/276), L858R was 23.19% (64/276) and 20-ins was 0.72 (2/276), 0.72% (2/276) for L861Q, 1.09% (3/276) for G719X, 0.36% (1/276) for S768I and 0.72% (2/276) for T790M with G719X + S768I, 19del + T790M and L858R + T790M respectively. The positive rate of ALK gene fusion was 5.80% (12/207). In the subtypes of lung adenocarcinoma, EGFR gene mutation was associated with adenocarcinoma of adenocarcinoma, acinar adenocarcinoma , Papillary adenocarcinoma, solid-state adenocarcinoma and invasive mucinous adenocarcinoma (P <0.001, P = 0.009, P = 0.023, P <0.001 and P = 0.030) (P> 0.05). There was no significant difference in the subtypes of ALK fusion gene in all subtypes of lung adenocarcinoma (P> 0.05). Conclusion: The histological subtypes of lung adenocarcinoma are related to the mutation of EGFR gene. The mutations of EGFR gene in the adaxial thyroid carcinoma, acinar adenocarcinoma and papillary adenocarcinoma are more obvious than those in other subtypes.