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具有外显子14跳跃突变的非小细胞肺癌的临床病理及影像学特征

Clinicopathologic and Imaging Features of Non-Small-Cell Lung Cancer with Exon 14 Skipping Mutations.

作者信息

Digumarthy Subba R, Mendoza Dexter P, Zhang Eric W, Lennerz Jochen K, Heist Rebecca S

机构信息

Department of Radiology, Massachusetts General Hospital, Boston, MA 02114, USA.

Center for Integrated Diagnostics, Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA.

出版信息

Cancers (Basel). 2019 Dec 17;11(12):2033. doi: 10.3390/cancers11122033.

Abstract

exon 14 (ex14) skipping mutations are an emerging potentially targetable oncogenic driver mutation in non-small-cell lung cancer (NSCLC). The imaging features and patterns of metastasis of NSCLC with primary ex14 skipping mutations (ex14-mutated NSCLC) are not well described. Our goal was to determine the clinicopathologic and imaging features that may suggest the presence of ex14 skipping mutations in NSCLC. This IRB-approved retrospective study included NSCLC patients with primary ex14 skipping mutations and pre-treatment imaging data between January 2013 and December 2018. The clinicopathologic characteristics were extracted from electronic medical records. The imaging features of the primary tumor and metastases were analyzed by two thoracic radiologists. In total, 84 patients with ex14-mutated NSCLC (mean age = 71.4 ± 10 years; F = 52, 61.9%, M = 32, 38.1%; smokers = 47, 56.0%, nonsmokers = 37, 44.0%) were included in the study. Most tumors were adenocarcinoma (72; 85.7%) and presented as masses (53/84; 63.1%) that were peripheral in location (62/84; 73.8%). More than one in five cancers were multifocal (19/84; 22.6%). Most patients with metastatic disease had only extrathoracic metastases (23/34; 67.6%). Fewer patients had both extrathoracic and intrathoracic metastases (10/34; 29.4%), and one patient had only intrathoracic metastases (1/34, 2.9%). The most common metastatic sites were the bones (14/34; 41.2%), the brain (7/34; 20.6%), and the adrenal glands (7/34; 20.6%). Four of the 34 patients (11.8%) had metastases only at a single site. ex14-mutated NSCLC has distinct clinicopathologic and radiologic features.

摘要

外显子14(ex14)跳跃突变是非小细胞肺癌(NSCLC)中一种新出现的、可能可靶向的致癌驱动突变。具有原发性ex14跳跃突变的NSCLC(ex14突变型NSCLC)的影像学特征和转移模式尚未得到充分描述。我们的目标是确定可能提示NSCLC存在ex14跳跃突变的临床病理和影像学特征。这项经机构审查委员会批准的回顾性研究纳入了2013年1月至2018年12月期间患有原发性ex14跳跃突变的NSCLC患者及治疗前影像学数据。临床病理特征从电子病历中提取。两名胸科放射科医生分析了原发肿瘤和转移灶的影像学特征。该研究共纳入84例ex14突变型NSCLC患者(平均年龄=71.4±10岁;女性=52例,61.9%,男性=32例,38.1%;吸烟者=47例,56.0%,非吸烟者=37例,44.0%)。大多数肿瘤为腺癌(72例;85.7%),表现为肿块(53/84;63.1%),位于外周(62/84;73.8%)。超过五分之一的癌症为多灶性(19/84;22.6%)。大多数有转移的患者仅有胸外转移(23/34;67.6%)。较少患者同时有胸外和胸内转移(10/34;29.4%),1例患者仅有胸内转移(1/34,2.9%)。最常见的转移部位是骨骼(14/34;41.2%)、脑(7/34;20.6%)和肾上腺(7/34;20.6%)。34例患者中有4例(11.8%)仅在单一部位有转移。ex14突变型NSCLC具有独特的临床病理和放射学特征。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b41/6966679/3b6825203d2f/cancers-11-02033-g001.jpg

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