ArticleCancers2019
The New Genetic Landscape of Cushing's Disease: Deubiquitinases in the Spotlight.
Article in Cancers, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
27 citing papers in PubMed, 39 citations in OpenAlex.
- Systemic and cardiac pathology induced by a clinically relevant USP8 activating mutation.Disease models & mechanisms · 2026Article
- NR3C1 is required for normal somatotrope differentiation and Foxo1 expression in pituitary.Endocrinology · 2026Article
- Molecular biology of pituitary neuroendocrine tumors.Journal of neuro-oncology · 2026Review
- Differential expression of POMC-processing genes in corticotroph tumors.Endocrine oncology (Bristol, England) · 2026Article
- Aryl hydrocarbon receptor interacting protein and syndromic gene variants detected in Turkish isolated pituitary adenoma families by whole exome sequencing.Scientific reports · 2025Article
- The prevalence and predictors of Cushing disease recurrence: a 10-year experience of a pituitary tumor center of excellence.Endocrine · 2025Article
- Review
- Article
- Review
- Gene Mutations in Cushing's Syndrome.Molecular syndromology · 2023Review
- The expression of glucocorticoid and mineralocorticoid receptors in pituitary tumors causing Cushing's disease and silent corticotroph tumors.Frontiers in endocrinology · 2023Article
- Aggressive corticotroph tumors and carcinomas.Journal of neuroendocrinology · 2022Review
- Genetic Basis of ACTH-Secreting Adenomas.International journal of molecular sciences · 2022Review
- The Role of Glucocorticoid Receptor in the Pathophysiology of Pituitary Corticotroph Adenomas.International journal of molecular sciences · 2022Review
- Responsiveness to DDAVP in Cushing's disease is associated with USP8 mutations through enhancing AVPR1B promoter activity.Pituitary · 2022Article
- P720R USP8 Mutation Is Associated with a Better Responsiveness to Pasireotide in ACTH-Secreting PitNETs.Cancers · 2022Article
- USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease.Endocrine · 2022Article
- Glucocorticoid Receptors Are Making a Comeback in Corticotroph Tumorigenesis.Endocrinology · 2022Article
- Drug resistance in pituitary tumours: from cell membrane to intracellular signalling.Nature reviews. Endocrinology · 2021Review
- Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a NovelCancers · 2021Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Cushing's disease (CD) is a rare condition caused by adrenocorticotropic hormone (ACTH)-producing adenomas of the pituitary, which lead to hypercortisolism that is associated with high morbidity and mortality. Treatment options in case of persistent or recurrent disease are limited, but new insights into the pathogenesis of CD are raising hope for new therapeutic avenues. Here, we have performed a meta-analysis of the available sequencing data in CD to create a comprehensive picture of CD's genetics. Our analyses clearly indicate that somatic mutations in the deubiquitinases are the key drivers in CD, namely USP8 (36.5%) and USP48 (13.3%). While in USP48 only Met415 is affected by mutations, in USP8 there are 26 different mutations described. However, these different mutations are clustering in the same hotspot region (affecting in 94.5% of cases Ser718 and Pro720). In contrast, pathogenic variants classically associated with tumorigenesis in genes like TP53 and BRAF are also present in CD but with low incidence (12.5% and 7%). Importantly, several of these mutations might have therapeutic potential as there are drugs already investigated in preclinical and clinical setting for other diseases. Furthermore, network and pathway analyses of all somatic mutations in CD suggest a rather unified picture hinting towards converging oncogenic pathways.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.