GRCh38 · COSMIC v94


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Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung.
Paper ID
Jung SH, Kim MS, Lee SH, Park HC, Choi HJ, Maeng L, Min KO, Kim J, Park TI, Shin OR, Kim TJ, Xu H, Lee KY, Kim TM, Song SY, Lee C, Chung YJ and Lee SH
Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea; Department of Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
Proceedings of the National Academy of Sciences of the United States of America, 2016;113(38):10672-7
ISSN: 1091-6490
PMID: 27601661 (view at PubMed or Europe PMC)
Pulmonary sclerosing hemangioma (PSH) is a benign tumor with two cell populations (epithelial and stromal cells), for which genomic profiles remain unknown. We conducted exome sequencing of 44 PSHs and identified recurrent somatic mutations of AKT1 (43.2%) and β-catenin (4.5%). We used a second subset of 24 PSHs to confirm the high frequency of AKT1 mutations (overall 31/68, 45.6%; p.E17K, 33.8%) and recurrent β-catenin mutations (overall 3 of 68, 4.4%). Of the PSHs without AKT1 mutations, two exhibited AKT1 copy gain. AKT1 mutations existed in both epithelial and stromal cells. In two separate PSHs from one patient, we observed two different AKT1 mutations, indicating they were not disseminated but independent arising tumors. Because the AKT1 mutations were not found to co-occur with β-catenin mutations (or any other known driver alterations) in any of the PSHs studied, we speculate that this may be the single-most common driver alteration to develop PSHs. Our study revealed genomic differences between PSHs and lung adenocarcinomas, including a high rate of AKT1 mutation in PSHs. These genomic features of PSH identified in the present study provide clues to understanding the biology of PSH and for differential genomic diagnosis of lung tumors.
Paper Status