Elucidating Genomic Characteristics of Lung Cancer Progression from In Situ to Invasive Adenocarcinoma.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

Original Publication: London : Nature Publishing Group, copyright 2011-

Mutation*; APOBEC Deaminases/*genetics ; Adenocarcinoma/*genetics ; Lung Neoplasms/*genetics ; Proto-Oncogene Proteins p21(ras)/*genetics; Adenocarcinoma/pathology ; Adenocarcinoma/therapy ; Aged ; Female ; Humans ; Lung Neoplasms/pathology ; Lung Neoplasms/therapy ; Male ; Middle Aged ; Neoplasm Invasiveness

To examine the diversity of somatic alterations and clonal evolution according to aggressiveness of disease, nineteen tumor-blood pairs of 'formerly bronchiolo-alveolar carcinoma (BAC)' which had been reclassified into preinvasive lesion (adenocarcinoma in situ; AIS), focal invasive lesion (minimally invasive adenocarcinoma; MIA), and invasive lesion (lepidic predominant adenocarcinoma; LPA and non-lepidic predominant adenocarcinoma; non-LPA) according to IASLC/ATS/ERS 2011 classification were explored by whole exome sequencing. Several distinct somatic alterations were observed compare to the lung adenocarcinoma study from the Cancer Genome Atlas (TCGA). There were higher numbers of tumors with significant APOBEC mutation fold enrichment (73% vs. 58% TCGA). The frequency of KRAS mutations was lower in our study (5% vs. 32% TCGA), while a higher number of mutations of RNA-splicing genes, RBM10 and U2AF1, were found (37% vs. 11% TCGA). We found neither mutational pattern nor somatic copy number alterations that were specific to AIS/MIA. We demonstrated that clonal cell fraction was the only distinctive feature that discriminated LPA/non-LPA from AIS/MIA. The broad range of clonal frequency signified a more branched clonal evolution at the time of diagnosis. Assessment of tumor clonal cell fraction might provide critical information for individualized therapy as a prognostic factor, however this needs further study.

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001 International WHO_ World Health Organization

0 (KRAS protein, human)
EC 3.5.4.5 (APOBEC Deaminases)
EC 3.6.5.2 (Proto-Oncogene Proteins p21(ras))

Date Created: 20160823 Date Completed: 20180510 Latest Revision: 20240324

20240324

PMC4992872

10.1038/srep31628

27545006