ArticleProceedings of the National Academy of Sciences of the United States of America2016
Whole-exome sequencing identifies recurrent AKT1 mutations in sclerosing hemangioma of lung.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 50 citations in OpenAlex.
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- Bronchiolar adenoma and glandular papilloma/mixed squamous cell and glandular papilloma represent a continuous disease spectrum: revelations from combined histological and genetic analysis.Histopathology · 2026Article
- [Variant Allele Frequency Stratification and EGFR Co-mutation Characteristics in AKT1 E17K-mutant Non-small Cell Lung Cancer].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2026Article
- PHLPP is neither a Phosphatase nor a Tumor Suppressor.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Integrating Genomics, Radiomics, and Pathomics in Oncology: A Scoping Review and a Framework for AI-Enabled Surgomics.Bioengineering (Basel, Switzerland) · 2026Review
- Pulmonary sclerosing pneumocytoma with rapid progression: a case description of serial images.Quantitative imaging in medicine and surgery · 2025Article
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- Multiple pulmonary sclerosing pneumocytoma, based on a study of 36 cases worldwide.Scientific reports · 2024Article
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- Pulmonary sclerosing pneumocytoma: clinical features and prognosis.World journal of surgical oncology · 2022Review
- An advanced molecular medicine case report of a rare human tumor using genomics, pathomics, and radiomics.Frontiers in genetics · 2022Article
- Unusual lung tumors-from morphology to genetics.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- Simulation studies, 3D QSAR and molecular docking on a point mutation of protein kinase B with flavonoids targeting ovarian Cancer.BMC pharmacology & toxicology · 2021Article
- Loss of CTNNB1 exon 3 in sclerosing angiomatoid nodular transformation of the spleen.Virchows Archiv : an international journal of pathology · 2021Article
- Case Report and Literature Review: Pulmonary Sclerosing Pneumocytoma With Multiple Metastases HarboringFrontiers in medicine · 2021Article
- [Analysis of Clinical Characteristics of 35 Cases of Pulmonary Sclerosing Pneumocytoma].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2020Article
- AKT1 internal tandem duplications and point mutations are the genetic hallmarks of sclerosing pneumocytoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2020Article
- An analysis of genetic heterogeneity in untreated cancers.Nature reviews. Cancer · 2019Review
- KRAS mutations drive adenomatoid odontogenic tumor and are independent of clinicopathological features.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Intratumoral Heterogeneity of Somatic Mutations for NRIP1, DOK1, ULK1, ULK2, DLGAP3, PARD3 and PRKCI in Colon Cancers.Pathology oncology research : POR · 2018Article
Corrections and comments
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Authors and funding
18 authors at 5 institutions in 3 countries.
Funding
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 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 β-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 β-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.
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