Whole-exome sequencing identifies recurrent <i>AKT1</i> mutations in sclerosing hemangioma of lung

  • Seung-Hyun Jung
    Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Min Sung Kim
    Department of Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Sung-Hak Lee
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Hyun-Chun Park
    Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Hyun Joo Choi
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Leeso Maeng
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Ki Ouk Min
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Jeana Kim
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Tae In Park
    Department of Pathology, Kyungpook National University School of Medicine, Daegu 41944, Korea;
  • Ok Ran Shin
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Tae-Jung Kim
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Haidong Xu
    Center of Laboratory, Yanbian University Hospital, Yanji 133000, China;
  • Kyo Young Lee
    Hospital Pathology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Tae-Min Kim
    Medical Informatics, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • Sang Yong Song
    Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Suwon 16419, Korea;
  • Charles Lee
    The Jackson Laboratory for Genomic Medicine, Farmington, CT 06032;
  • Yeun-Jun Chung
    Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea;
  • 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>

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