肺毛玻璃样混浊的CT影像、病理与基因型的相关性探讨

IF 5.3 2区 医学 Q1 Biochemistry, Genetics and Molecular Biology Journal of Cellular and Molecular Medicine Pub Date : 2023-06-20 DOI:10.1111/jcmm.17797
Yong Cai, Tong Chen, Shiju Zhang, Min Tan, Jiying Wang
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引用次数: 1

摘要

分析磨玻璃样混浊(GGO)结节手术患者的临床特点、影像学表现、病理分型和基因检测结果,探讨GGO患者合理的诊断和治疗方案,为制定GGO治疗方案提供依据。本研究是一项探索性研究。本研究纳入465例经HRCT证实,在上海市肺科医院接受手术并经病理证实的GGO患者。所有GGO患者均为单一病变病例。对单个GGO的临床、影像学、病理学和分子生物学数据之间的关系进行了统计研究。(1) 在465例病例中,中位年龄为58岁 女性315例(67.7%);非吸烟者397例(85.4%),无临床症状354例(76.1%)。良性GGO 33例,恶性GGO 432例。GGO的大小、液泡征、胸膜凹陷和血管征两组比较有显著性差异(p <; 在230mGGO中,没有AAH,有13例AIS,25例MIA和173例浸润性腺癌。浸润性腺癌发生实体结节的概率高于微浸润性癌,差异有统计学意义(p <; 随访360例,平均随访时间6.05 GGO增加34例(9.4%)。(2) 经病理诊断的428例腺癌标本中,EGFR突变262例(61.2%),KRAS突变14例(3.3%),Braf突变1例(0.2%),EML4-ALK基因融合9例(2.1%),ROS1融合2例(0.5%)。mGGO的基因突变检出率高于pGGO。随访期间,32例GGO的基因检测结果显示,EGFR突变率为53.1%,ALK阳性率为6.3%,KRAS突变率为3.1%,无ros1和BRAF基因突变。与未改变的GGO相比,没有观察到统计学上的显著差异。(3) 侵袭性腺癌的EGFR突变率最高(168/228,73.7%),主要发生在19Del和L858R点突变中。非典型腺瘤增生中未发现KRAS突变。不同类型GGO的KRAS突变率无显著差异(p = EML4-ALK融合基因主要在侵袭性腺癌中表达(7/9)。GGO往往发生在不吸烟的年轻女性身上。GGO的大小与恶性程度有关。胸膜凹陷征、液泡征和血管簇征均为恶性GGO的特征性影像。pGGO和mGGO反映了GGO的病理发展。随访中发现GGO增加,出现实体成分,是手术切除的指征。mGGO和浸润性腺癌中EGFR突变的检出率较高。pGGO在影像学、病理学和分子生物学方面具有异质性。异质性研究有助于制定正确的个体化诊断和治疗计划。
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Correlation exploration among CT imaging, pathology and genotype of pulmonary ground-glass opacity

To analyse the clinical features, imaging manifestation, pathological typing and genetic testing results of patients undergoing surgery for ground-glass opacity (GGO) nodules, and explore the reasonable diagnosis and treatment program for GGO patients as to provide the basis for the establishment of GGO treatment process. This study is an exploratory study. 465 cases with GGO confirmed by HRCT, undergoing surgery and approved by pathologic diagnosis in Shanghai pulmonary hospital were enrolled in this study. All the patients with GGO were cases with single lesion. The relationship between the clinical, imaging, pathological and molecular biological data of single GGO were statistically studied. (1) Among 465 cases, the median age was 58 years and females were 315 (67.7%); there were 397 (85.4%) non-smoking, and 354 cases (76.1%) had no clinical symptoms. There were 33 cases of benign and 432 cases of malignant GGO. Significant differences were observed on the size, vacuole sign, pleural indentation and blood vessel sign of GGO between two groups (p < 0.05). Of 230 mGGO, there were no AAH, 13 cases of AIS, 25 cases of MIA and 173 cases of invasive adenocarcinoma. The probability of solid nodules in invasive adenocarcinoma was higher than that in micro invasive carcinoma, and the difference was statistically significant (p < 0.05). 360 cases were followed up with the average follow-up time of 6.05 months, and GGO of 34 cases (9.4%) increased. (2) In 428 adenocarcinoma samples approved by pathologic diagnosis, there were 262 (61.2%) lesions of EGFR mutation, 14 (3.3%) lesions of KRAS mutation, 1 (0.2%) lesion of Braf mutation, 9 (2.1%) lesions of EML4-ALK gene fusion and 2 (0.5%) lesions of ROS1 fusion. The detection rate of gene mutation in mGGO was higher than that of pGGO. During the follow-up period, genetic testing results of 32 GGO showed that EGFR mutation rate was 53.1%, ALK positive rate of 6.3%, KRAS mutation rate of 3.1% and no ros1 and BRAF gene mutation. No statistically significant difference was observed in comparison with unchanged GGO. (3) EGFR mutation rate of invasive adenocarcinoma was the highest (168/228, 73.7%), mainly in the 19Del and L858R point mutations. No KRAS mutation was found in atypical adenoma hyperplasia. No significant difference was observed on the mutation rate of KRAS between different types of GGO (p = 0.811). EML4-ALK fusion gene was mainly detected in invasive adenocarcinoma (7/9). GGO tends to occur in young, non-smoking women. The size of GGO is related to the degree of malignancy. Pleural depression sign, vacuole sign and vascular cluster sign are all characteristic images of malignant GGO. pGGO and mGGO reflect the pathological development of GGO. During the follow-up, it is found that GGO increases and solid components appear, which is the indication of surgical resection. The detection rate of EGFR mutations in mGGO and invasive adenocarcinoma is high. pGGO has heterogeneity in imaging, pathology and molecular biology. Heterogeneity research helps to formulate correct individualized diagnosis and treatment plans.

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来源期刊
CiteScore
10.00
自引率
1.90%
发文量
496
审稿时长
28 weeks
期刊介绍: Bridging physiology and cellular medicine, and molecular biology and molecular therapeutics, Journal of Cellular and Molecular Medicine publishes basic research that furthers our understanding of the cellular and molecular mechanisms of disease and translational studies that convert this knowledge into therapeutic approaches.
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