复合克隆分析揭示非小细胞肺癌亚型通过基因突变积累的转变：一例报告
Composite Clonal Analysis Reveals Transition of NSCLC Subtypes Through Accumulation of Gene Mutations: A Case Report.
作者信息
Ando Takahiro, Kage Hidenori, Shinozaki-Ushiku Aya, Tatsuno Kenji, Tsutsumi Shuichi, Nagayama Kazuhiro, Nakajima Jun, Kohsaka Shinji, Miyagawa Kiyoshi, Aburatani Hiroyuki, Mano Hiroyuki, Nagase Takahide
机构信息
Department of Respiratory Medicine, The University of Tokyo Hospital, Tokyo, Japan.
Department of Pathology, The University of Tokyo Hospital, Tokyo, Japan.
出版信息
JTO Clin Res Rep. 2022 Jan 10;3(2):100277. doi: 10.1016/j.jtocrr.2022.100277. eCollection 2022 Feb.
We analyzed an EGFR-mutated lung cancer with a pathologic diagnosis of combined large cell neuroendocrine carcinoma with mixed adenocarcinoma subtypes. Targeted next-generation sequencing of each component suggested that mutations in , and and apparent loss of heterozygosity of and accompanied the transition of different adenocarcinoma subtypes. Additional gene mutations including , , and were noted during transdifferentiation from acinar adenocarcinoma to large cell neuroendocrine carcinoma. Combined DNA and RNA analysis using Todai OncoPanel revealed that transdifferentiation to different pathologic subtypes occurred in a single tumor through the accumulation of gene mutations
我们分析了一例经病理诊断为大细胞神经内分泌癌合并混合腺癌亚型的EGFR突变型肺癌。对每个组分进行的靶向二代测序表明，不同腺癌亚型的转变伴随着 、 和 的突变以及 和 的杂合性明显缺失。在腺泡腺癌向大细胞神经内分泌癌的转分化过程中，还发现了包括 、 和 在内的其他基因突变。使用东京大学肿瘤分析面板进行的DNA和RNA联合分析显示，单个肿瘤中通过基因突变的积累发生了向不同病理亚型的转分化
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