ArticleEndocrine-related cancer2021
Targeted genomic analysis of 364 adrenocortical carcinomas.
Article in Endocrine-related cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed, 26 citations in OpenAlex.
- Phase II study of cabazitaxel as second-third line treatment in patients with metastatic adrenocortical carcinoma.ESMO open · 2022Trial
- Clinicopathologic, immunohistochemical, and molecular correlates in resected primary adrenocortical carcinoma: a single-institution cohort study.Virchows Archiv : an international journal of pathology · 2026Article
- Frequent antecedent nodules and diagnostic gaps in adrenocortical carcinoma.Journal of the Endocrine Society · 2026Article
- Glutamine antagonism suppresses tumor growth in adrenocortical carcinoma through inhibition of de novo nucleotide biosynthesis.bioRxiv : the preprint server for biology · 2025Article
- Adrenocortical stem cells in health and disease.Nature reviews. Endocrinology · 2025Review
- Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.European journal of endocrinology · 2025Article
- Updates on WHO 5th edition classification, molecular characteristics and tumor microenvironment of adrenocortical carcinomas.Endocrine journal · 2025Review
- ADRENOCORTICAL CARCINOMA: AN ORPHAN MALIGNANCY: FROM THE PATIENT TO THE BENCH AND BACK.Transactions of the American Clinical and Climatological Association · 2024Article
- Pharmacogenomic analysis in adrenocortical carcinoma reveals genetic features associated with mitotane sensitivity and potential therapeutics.Frontiers in endocrinology · 2024Article
- Advances in translational research of the rare cancer type adrenocortical carcinoma.Nature reviews. Cancer · 2023Review
- Pathogenic Insights into DNA Mismatch Repair (MMR) Genes-Proteins and Microsatellite Instability: Focus on Adrenocortical Carcinoma and Beyond.Diagnostics (Basel, Switzerland) · 2023Review
- Consistency and reproducibility of large panel next-generation sequencing: Multi-laboratory assessment of somatic mutation detection on reference materials with mismatch repair and proofreading deficiency.Journal of advanced research · 2023Article
- Update on Biology and Genomics of Adrenocortical Carcinomas: Rationale for Emerging Therapies.Endocrine reviews · 2022Article
- Prognostic Factors in Advanced Adrenocortical Carcinoma: Summary of a National Referral Center's 20 years of Experience.Journal of the Endocrine Society · 2022Article
- Targeted Therapy for Adrenocortical Carcinoma: A Genomic-Based Search for Available and Emerging Options.Cancers · 2022Article
- Pathological and Genetic Stratification for Management of Adrenocortical Carcinoma.The Journal of clinical endocrinology and metabolism · 2022Review
- Overview of the 2022 WHO Classification of Adrenal Cortical Tumors.Endocrine pathology · 2022Review
- Molecular genotyping of adrenocortical carcinoma: a systematic analysis of published literature 2019-2021.Current opinion in oncology · 2022Review
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 1 country.
Funding
Abstract
Despite recent advances in elucidating molecular pathways underlying adrenocortical carcinoma (ACC), this orphan malignancy is associated with poor survival. Identification of targetable genomic alterations is critical to improve outcomes. The objective of this study was to characterize the genomic profile of a large cohort of patient ACC samples to identify actionable genomic alterations. Three hundred sixty-four individual patient ACC tumors were analyzed. The median age of the cohort was 52 years and 60.9% (n = 222) were female. ACC samples had common alterations in epigenetic pathways with 38% of tumors carrying alterations in genes involved in histone modification, 21% in telomere lengthening, and 21% in SWI/SNF complex. Tumor suppressor genes and WNT signaling pathway were each mutated in 51% of tumors. Fifty (13.7%) ACC tumors had a genomic alteration in genes involved in the DNA mismatch repair (MMR) pathway with many tumors also displaying an unusually high number of mutations and a corresponding MMR mutation signature. In addition, genomic alterations in several genes not previously associated with ACC were observed, including IL7R, LRP1B, FRS2 mutated in 6, 8 and 4% of tumors, respectively. In total, 58.5% of ACC (n = 213) had at least one potentially actionable genomic alteration in 46 different genes. As more than half of ACC have one or more potentially actionable genomic alterations, this highlights the value of targeted sequencing for this orphan cancer with a poor prognosis. In addition, significant incidence of MMR gene alterations suggests that immunotherapy is a promising therapeutic for a considerable subset of ACC patients.
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