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Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung

Title
Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung
Authors
Jung, Seung-HyunKim, Min SungLee, Sung-HakPark, Hyun-ChunChoi, Hyun JooMaeng, LeesoMin, Ki OukKim, JeanaPark, Tae InShin, Ok RanKim, Tae-JungXu, HaidongLee, Kyo YoungKim, Tae-MinSong, Sang YongLee, CharlesChung, Yeun-JunLee, Sug Hyung
Ewha Authors
Charles Lee
SCOPUS Author ID
Charles Leescopus
Issue Date
2016
Journal Title
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
ISSN
0027-8424JCR Link
Citation
vol. 113, no. 38, pp. 10672 - 10677
Keywords
pulmonary sclerosing hemangiomawhole-exome sequencingAKT1 mutationcopy number alteration
Publisher
NATL ACAD SCIENCES
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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 beta-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 beta-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 beta-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.
DOI
10.1073/pnas.1606946113
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일반대학원 > 생명과학과 > Journal papers
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