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

2016; National Academy of Sciences; Volume: 113; Issue: 38 Linguagem: Inglês

10.1073/pnas.1606946113

1091-6490

Seung‐Hyun Jung, Min Sung Kim, Sung Hak Lee, Hyun-Chun Park, Hyun Joo Choi, Lee-So Maeng, Ki Ouk Min, Jeana Kim, Tae In Park, Ok Ran Shin, Tae Jung Kim, Haidong Xu, Kyo Young Lee, Tae‐Min Kim, Sang Yong Song, Charles Lee, Yeun‐Jun Chung, Sug Hyung Lee,

Tracheal and airway disorders

Significance This report is an in-depth genetic profiling of pulmonary sclerosing hemangioma (PSH). We have discovered that PSH harbor recurrent AKT1 mutations (45.6%), most of which were AKT1 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 ( AKT1 or β-catenin ), which may provide clues to understanding the benign biology of PSH and for differential genomic diagnosis of lung tumors.