SynthesisPituitary2019
Cushing's disease due to somatic USP8 mutations: a systematic review and meta-analysis.
Synthesis in Pituitary, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Targeted analysis of Ubiquitin-Specific Peptidase (USP8) in a population of Iranian people with Cushing's disease and a systematic review of the literature.BMC endocrine disorders · 2024Pooled it
- Aggressive PitNETs and Potential Target Therapies: A Systematic Review of Molecular and Genetic Pathways.International journal of molecular sciences · 2023Pooled it
- 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
- Article
- Clinical Implications of Molecular and Genetic Biomarkers in Cushing's Disease: A Literature Review.Journal of clinical medicine · 2025Review
- Somatic USP8 alteration affects the immune landscape of corticotroph pituitary adenomas- a pilot study.Hormones (Athens, Greece) · 2024Article
- Cushing's Disease Manifestation inInternational journal of molecular sciences · 2024Article
- Relevance of mutations in protein deubiquitinases genes andFrontiers in endocrinology · 2024Article
- [Molecular genetic abnormalities in ACTH-secreting pituitary tumors (corticotropinomas): fundamental research and prospects for use in clinical practice].Problemy endokrinologii · 2023Review
- The hallmarks of cancer… in pituitary tumors?Reviews in endocrine & metabolic disorders · 2023Review
- Clinical Biology of the Pituitary Adenoma.Endocrine reviews · 2022Review
- Genetic Basis of ACTH-Secreting 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
- The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas.International journal of molecular sciences · 2022Article
- Cushing disease due to a somaticArchives of endocrinology and metabolism · 2022Article
- Perioperative Management of a Patient With Cushing Disease.Journal of the Endocrine Society · 2022Article
- Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a NovelCancers · 2021Article
- The clinical aspects of pituitary tumour genetics.Endocrine · 2021Review
- Differential microRNA Expression inJournal of clinical medicine · 2021Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
purposeCushing's disease (CD) is a severe illness generally caused by microcorticotropinomas (MICs) and in approximately 7-20% of patients by macrocorticotropinomas (MACs). USP8-mutations have been identified as a major genetic cause of CD (~ 50%). Few studies have reported the distribution between MICs-MACs related to USP8-mutations and their genotype-phenotype correlations. Therefore, we aimed to evaluate USP8-mutations in a cohort of MICs-MACs from a unique center and to perform a systematic review and meta-analysis.
methodsDNA-tumor-tissues from 47 corticotropinomas (16 MICs and 31 MACs) were sequenced. Clinical-biochemical data, radiological imaging data and remission/recurrence rates were evaluated. In addition, we performed a meta-analysis of nine published series (n = 630).
resultsWe identified four different USP8-mutations previously described, in 11 out of 47 (23.4%) corticotropinomas; 8 out of 11 were MACs. The urinary cortisol levels of our patients with corticotrophin USP8-mutated-alleles were lower than those of patients with wild-type (WT) alleles (p ≤ 0.017). The frequency of USP8-mutated-alleles among the series was approximately 30% with a higher prevalence in female-patients (p < 0.1 × 10
conclusionOur data, as well as the retrospective review of CD series associated with USP8-mutated alleles, show heterogeneous findings among the series. Several drawbacks included the lack of a systematic protocol to evaluate these patients before surgery and follow-up. Further prospective studies using a systematic protocol will provide more consistent information about the influence of the corticotropinomas with USP8-mutated alleles on the phenotype, responses to treatment and outcome of patients with CD.
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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.