Whole-exome sequencing identifies recurrent <i>AKT1</i> mutations in sclerosing hemangioma of lung
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- Seung-Hyun Jung
- Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Min Sung Kim
- Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Sung-Hak Lee
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Hyun-Chun Park
- Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Hyun Joo Choi
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Leeso Maeng
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Ki Ouk Min
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Jeana Kim
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Tae In Park
- Department of Pathology, Kyungpook National University School of Medicine, Daegu 41944, Korea;
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- Ok Ran Shin
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Tae-Jung Kim
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Haidong Xu
- Center of Laboratory, Yanbian University Hospital, Yanji 133000, China;
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- Kyo Young Lee
- Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Tae-Min Kim
- Medical Informatics, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Sang Yong Song
- Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Suwon 16419, Korea;
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- Charles Lee
- The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032;
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- Yeun-Jun Chung
- Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
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- Sug Hyung Lee
- Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
抄録
<jats:title>Significance</jats:title> <jats:p> This report is an in-depth genetic profiling of pulmonary sclerosing hemangioma (PSH). We have discovered that PSH harbor recurrent <jats:italic>AKT1</jats:italic> mutations (45.6%), most of which were <jats:italic>AKT1</jats:italic> p.E17K mutations. This mutation may be the single-most common driver alteration to develop PSHs. In contrast to lung adenocarcinoma, PSH genomes harbor only a single driver mutation ( <jats:italic>AKT1</jats:italic> or <jats:italic>β-catenin</jats:italic> ), which may provide clues to understanding the benign biology of PSH and for differential genomic diagnosis of lung tumors. </jats:p>
収録刊行物
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- Proceedings of the National Academy of Sciences
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Proceedings of the National Academy of Sciences 113 (38), 10672-10677, 2016-09-06
Proceedings of the National Academy of Sciences