ArticleNature communications2018
Identification of recurrent USP48 and BRAF mutations in Cushing's disease.
Erratum issuedOpen access · goldAbstract read
In one paragraph
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 86 papers, 3 of them syntheses that pooled it.
0numbers the graph read from it
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86citing papers in PubMed, 3 pooled it
9.8field-weighted citation impact, top 1% of its field
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Who cites it
86 citing papers in PubMed, 3 syntheses or guidelines pooled it, 143 citations in OpenAlex.
- Aggressive PitNETs and Potential Target Therapies: A Systematic Review of Molecular and Genetic Pathways.International journal of molecular sciences · 2023Pooled it
- The Role of Activation of PI3K/AKT/mTOR and RAF/MEK/ERK Pathways in Aggressive Pituitary Adenomas-New Potential Therapeutic Approach-A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Cushing's disease due to somatic USP8 mutations: a systematic review and meta-analysis.Pituitary · 2019Pooled it
- Phosphoproteomic dysregulation promotes tumor proliferation in Cushing's disease.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The Sonic Hedgehog Pathway is Activated in Cushing's Disease with USP8 Mutations.Biochemical genetics · 2026Article
- Genetic testing in pituitary adenomas: a Pituitary Society International Consensus Statement.Nature reviews. Endocrinology · 2026Review
- Update and Practical Recommendations for the Use of Medical Treatment of Cushing Syndrome.Endocrine reviews · 2026Review
- Risk of recurrence after successful surgery for Cushing's disease and association with USP8 genotype and tumour size: an international, retrospective, longitudinal cohort study.The lancet. Diabetes & endocrinology · 2026Article
- Review
- Molecular biology of pituitary neuroendocrine tumors.Journal of neuro-oncology · 2026Review
- The genetics of hypertension.Nature reviews. Nephrology · 2026Review
- Differential expression of POMC-processing genes in corticotroph tumors.Endocrine oncology (Bristol, England) · 2026Article
- Article
- USP8, USP48, BRAF and TP53 mutations in crooke cell adenoma.Pituitary · 2025Article
- The STUB1-TPIT axis regulates the secretion of adrenocorticotrophic hormone in cushing disease.Journal of translational medicine · 2025Article
- Management of Cushing's disease in the initial phase~From detection to surgery~.Endocrine journal · 2025Review
- Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.European journal of endocrinology · 2025Article
- Clinical Implications of Molecular and Genetic Biomarkers in Cushing's Disease: A Literature Review.Journal of clinical medicine · 2025Review
- Liquid Biopsy in Pituitary Neuroendocrine Tumors-Potential Biomarkers for Diagnosis, Prognosis, and Therapy.International journal of molecular sciences · 2025Review
- A Nexus of Biomolecular Complexities in Pituitary Neuroendocrine Tumors: Insights into Key Molecular Drivers.Biomedicines · 2025Review
26 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
40 authors at 7 institutions in 4 countries.
Jianhua ChenShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.ORCID http://orcid.org/0000-0003-0326-3124
Xuemin JianShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.
Siyu DengShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Zengyi MaDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Xuefei ShouDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Yue ShenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Qilin ZhangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Zhijian SongShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.
Zhiqiang LiShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.ORCID http://orcid.org/0000-0002-0174-9254
Hong PengShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Cheng PengShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.
Min ChenCAS Key Laboratory of Systems Biology, CAS Center for Excellence in Molecular Cell Science, Innovation Center for Cell Signaling Network, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, 200031, China.
Cheng LuoDrug Discovery and Design Center, State Key Laboratory of Drug Research, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, Shanghai, 201203, China.ORCID http://orcid.org/0000-0003-3864-8382
Dan ZhaoUniversity of Chinese Academy of Sciences, Beijing, 100049, China.
Zhao YeDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Ming ShenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Yichao ZhangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Juan ZhouShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.
Aamir FahiraShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.
Yongfei WangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Shiqi LiDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Zhaoyun ZhangShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Hongying YeShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Yiming LiShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Jiawei ShenShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China.
Hong ChenShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Feng TangShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Zhenwei YaoShanghai Pituitary Tumor Center, Shanghai, 200040, China.
Zhifeng ShiDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Chunjui ChenDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Lu XieShanghai Center for Bioinformation Technology (SCBIT), Shanghai Academy of Science and Technology, Shanghai, 201203, China.
Ye WangDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Chaowei FuDepartment of Epidemiology, School of Public Health, Fudan University, Shanghai, 200032, China.
Ying MaoDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Liangfu ZhouDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China.
Daming GaoCAS Key Laboratory of Systems Biology, CAS Center for Excellence in Molecular Cell Science, Innovation Center for Cell Signaling Network, Shanghai Institute of Biochemistry and Cell Biology, Chinese Academy of Sciences, Shanghai, 200031, China.ORCID http://orcid.org/0000-0003-4374-1055
Hai YanDepartment of Pathology, Preston Robert Tisch Brain Tumor Center, Duke University Medical Center, Durham, NC, 27710, USA.
Yao ZhaoDepartment of Neurosurgery, Huashan Hospital, Shanghai Medical College, Fudan University, Shanghai, 200040, China. zhaoyaohs@vip.sina.com.
Chuanxin HuangShanghai Institute of Immunology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. huangcx@shsmu.edu.cn.
Yongyong ShiShanghai Key Laboratory of Psychotic Disorders, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine; Bio-X Institutes, Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education), and the Collaborative Innovation Center for Brain Science, Shanghai Jiao Tong University, Shanghai, 200030, China. shiyongyong@gmail.com.ORCID http://orcid.org/0000-0003-1710-1505
Fudan University · CNShanghai Jiao Tong University · CNChinese Academy of Sciences · CNShanghai Medical College of Fudan University · CNDuke Medical Center · USQingdao University · CNShanghai Academy of Science & Technology · CN
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cushing's disease results from corticotroph adenomas of the pituitary that hypersecrete adrenocorticotropin (ACTH), leading to excess glucocorticoid and hypercortisolism. Mutations of the deubiquitinase gene USP8 occur in 35-62% of corticotroph adenomas. However, the major driver mutations in USP8 wild-type tumors remain elusive. Here, we report recurrent mutations in the deubiquitinase gene USP48 (predominantly encoding p.M415I or p.M415V; 21/91 subjects) and BRAF (encoding p.V600E; 15/91 subjects) in corticotroph adenomas with wild-type USP8. Similar to USP8 mutants, both USP48 and BRAF mutants enhance the promoter activity and transcription of the gene encoding proopiomelanocortin (POMC), which is the precursor of ACTH, providing a potential mechanism for ACTH overproduction in corticotroph adenomas. Moreover, primary corticotroph tumor cells harboring BRAF V600E are sensitive to the BRAF inhibitor vemurafenib. Our study thus contributes to the understanding of the molecular mechanism of the pathogenesis of corticotroph adenoma and informs therapeutic targets for this disease.
Indexed as
MutationAdenomaAdultBinding SitesCpG IslandsDNA Mutational AnalysisFemaleHumansMaleMiddle AgedPhenotypePituitary ACTH HypersecretionPro-OpiomelanocortinProto-Oncogene Proteins B-rafSequence Analysis, DNAUbiquitin-Specific ProteasesBRAF protein, humanPro-OpiomelanocortinProto-Oncogene Proteins B-rafUbiquitin-Specific ProteasesUSP48 protein, human
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