Article
Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung.
Proceedings of the National Academy of Sciences of the United States of America - 20 Sept 2016
Jung Seung-Hyun, Kim Min Sung, Lee Sung-Hak, Park Hyun-Chun, Choi Hyun Joo, Maeng Leeso, Min Ki Ouk, Kim Jeana, Park Tae In, Shin Ok Ran, Kim Tae-Jung, Xu Haidong, Lee Kyo Young, Kim Tae-Min, Song Sang Yong, Lee Charles, Chung Yeun-Jun, Lee Sug Hyung
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.