ArticleThe Journal of clinical endocrinology and metabolism2019
Large Genomic Aberrations in Corticotropinomas Are Associated With Greater Aggressiveness.
Article in The Journal of clinical endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Consensus guideline for the diagnosis and management of pituitary adenomas in childhood and adolescence: Part 1, general recommendations.Nature reviews. Endocrinology · 2024Guideline
- Multi-omics integration unravels four molecular subgroups of corticotroph pituitary neuroendocrine tumours with distinct clinicopathological features.Nature communications · 2026Article
- Genetic evaluation of pediatric pituitary adenomas and USP8-related genotype-phenotype correlations in Cushing's disease.Pituitary · 2025Article
- Somatic Activating ESR1 Mutation in an Aggressive Prolactinoma.The Journal of clinical endocrinology and metabolism · 2025Article
- Genome-wide methylation profiling differentiates benign from aggressive and metastatic pituitary neuroendocrine tumors.Acta neuropathologica · 2024Article
- Genome-wide loss of heterozygosity predicts aggressive, treatment-refractory behavior in pituitary neuroendocrine tumors.Acta neuropathologica · 2024Article
- Spatial Transcriptomic Analysis of Pituitary Corticotroph Tumors.Journal of the Endocrine Society · 2024Article
- scRNA sequencing technology for PitNET studies.Frontiers in endocrinology · 2024Review
- Aggressive Pituitary Tumors and Pituitary Carcinomas: From Pathology to Treatment.The Journal of clinical endocrinology and metabolism · 2023Article
- An update on, and genetics of refractory adenomas of childhood.Pituitary · 2023Review
- Comparison of Homologous Recombination Repair Gene Next-Generation Sequencing Analysis in Patients With Metastatic Castration-Resistant Prostate Cancer Between Local and Central Laboratories in Korea.Annals of laboratory medicine · 2023Article
- Genetic drivers of Cushing's disease: Frequency and associated phenotypes.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Review
- Aggressive corticotroph tumors and carcinomas.Journal of neuroendocrinology · 2022Review
- Response to Letter to the Editor from Lasolle and Raverot: "USP8 and TP53 Drivers Are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors".The Journal of clinical endocrinology and metabolism · 2021Article
- Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.Endocrine reviews · 2020Review
- Chromosomal instability in the prediction of pituitary neuroendocrine tumors prognosis.Acta neuropathologica communications · 2020Article
- Germline CDKN1B Loss-of-Function Variants Cause Pediatric Cushing's Disease With or Without an MEN4 Phenotype.The Journal of clinical endocrinology and metabolism · 2020Article
- Aggressive pituitary tumors in the young and elderly.Reviews in endocrine & metabolic disorders · 2020Review
- Rare GermlineFrontiers in endocrinology · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
contextGenomic losses/gains are associated with cancer progression and prognosis. In pituitary adenomas, analyses of copy number variations (CNVs) have shown that a subset of adenomas have higher genomic variability. However, whether CNVs are associated with tumor aggressiveness and prognosis has not been determined.
objectiveWe hypothesized that somatic CNVs of pituitary tumors may play a role in the progression and aggressiveness of pituitary corticotropinomas in children and adolescents. SAMPLES AND
designPaired germline and tumor DNA samples from 27 pediatric patients with Cushing disease (CD), were subjected to whole exome sequencing. Somatic CNVs were identified using the ExomeDepth tool. Clinical, histological, and biochemical data from the patients were collected and correlated with the results of the CNV analysis.
resultsChromosomal instability, involving 23% to 59% of the tumor genome, was noted in 5 of the 27 samples (18.5%). The patients with tumors showing chromosomal instability had similar clinical and biochemical characteristics to the remaining patients, except for tumor size, which was larger (median size 18 mm vs 5.5 mm, P = 0.005). Tumors with chromosomal instability were also associated with a higher rate of invasion of the cavernous sinus (P = 0.029). There was insufficient information on persistence or recurrence of CD to determine whether the risk was higher in those with chromosomal instability.
conclusionsA subgroup of corticotropinomas demonstrates chromosomal instability that is associated with markers of aggressiveness of these adenomas. It appears that more genomic gains/losses in a few, rare corticotropinomas may predict poorer prognosis for pediatric patients with CD.
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