ArticleThe Journal of clinical endocrinology and metabolism2015
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinoma.
Article in The Journal of clinical endocrinology and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 95 papers.
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Who cites it
95 citing papers in PubMed, 170 citations in OpenAlex.
- Frequent antecedent nodules and diagnostic gaps in adrenocortical carcinoma.Journal of the Endocrine Society · 2026Article
- Patient Experience of Adrenocortical Carcinoma: Views from a Patient, His Physician and a Patient Association.Advances in therapy · 2026Article
- Systemic management of adrenal malignancies: adrenocortical carcinoma and pheochromocytoma/paraganglioma.Endocrine connections · 2026Article
- Genomic Catastrophe Defines the Evolutionary Trajectory of Adrenocortical Carcinoma.Endocrine pathology · 2026Article
- OCT4 and NANOG are involved in adrenocortical tumorigenesis.Archives of endocrinology and metabolism · 2026Article
- Histopathological and Molecular Characteristics of Pediatric Adrenocortical Tumors: where Do we Stand?Endocrine pathology · 2026Review
- An innovative nuclear antigen-based approach for single-cell isolation of circulating tumor cells in adrenal cortical carcinoma.The journal of liquid biopsy · 2025Article
- Updates on WHO 5th edition classification, molecular characteristics and tumor microenvironment of adrenocortical carcinomas.Endocrine journal · 2025Review
- Prognostic Value of Ubiquitination-Related Genes in Ovarian Cancer and Their Correlation With Tumor Immunity.Human mutation · 2025Article
- Identification of CENPM as a key gene driving adrenocortical carcinoma metastasis via physical interaction with immune checkpoint ligand FGL1.Clinical and translational medicine · 2025Article
- Germline targeted next-generation sequencing in patients with adrenal incidentalomas.Frontiers in endocrinology · 2025Article
- Oncocytic Adrenal Tumors: A Tri-Focal Review with Integrated Cytopathological, Pathological, and Molecular Perspectives.Acta cytologica · 2025Review
- The molecular genetics of adrenal cushing.Hormones (Athens, Greece) · 2024Review
- Molecular and Genetics Perspectives on Primary Adrenocortical Hyperfunction Disorders.International journal of molecular sciences · 2024Review
- A Database Tool Integrating Genomic and Pharmacologic Data from Adrenocortical Carcinoma Cell Lines, PDX, and Patient Samples.Cancer research communications · 2024Article
- Molecular pathology of endocrine gland tumors: genetic alterations and clinicopathologic relevance.Virchows Archiv : an international journal of pathology · 2024Review
- Establishment and characterization of a recurrent malignant peripheral nerve sheath tumor cell line: RsNF.Human cell · 2024Article
- Advances in translational research of the rare cancer type adrenocortical carcinoma.Nature reviews. Cancer · 2023Review
- FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.Endocrine pathology · 2023Article
- Coincidence of primary adrenocortical carcinoma and melanoma: three CASE reports.BMC endocrine disorders · 2023Article
35 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors at 4 institutions in 3 countries.
Funding
Abstract
contextAdrenocortical carcinoma (ACC) is a rare and lethal malignancy with a poorly defined etiology, and the molecular genetics of ACC are incompletely understood.
objectiveTo utilize whole-exome sequencing for genetic characterization of the underlying somatic mutations and copy number alterations present in ACC.
designScreening for somatic mutation events and copy number alterations (CNAs) was performed by comparative analysis of tumors and matched normal samples from 41 patients with ACC.
resultsIn total, 966 nonsynonymous somatic mutations were detected, including 40 tumors with a mean of 16 mutations per sample and one tumor with 314 mutations. Somatic mutations in ACC-associated genes included TP53 (8/41 tumors, 19.5%) and CTNNB1 (4/41, 9.8%). Genes with potential disease-causing mutations included GNAS, NF2, and RB1, and recurrently mutated genes with unknown roles in tumorigenesis comprised CDC27, SCN7A, and SDK1. Recurrent CNAs included amplification at 5p15.33 including TERT (6/41, 14.6%) and homozygous deletion at 22q12.1 including the Wnt repressors ZNRF3 and KREMEN1 (4/41 9.8% and 3/41, 7.3%, respectively). Somatic mutations in ACC-established genes and recurrent ZNRF3 and TERT loci CNAs were mutually exclusive in the majority of cases. Moreover, gene ontology identified Wnt signaling as the most frequently mutated pathway in ACCs.
conclusionsThese findings highlight the importance of Wnt pathway dysregulation in ACC and corroborate the finding of homozygous deletion of Wnt repressors ZNRF3 and KREMEN1. Overall, mutations in either TP53 or CTNNB1 as well as focal CNAs at the ZNRF3 or TERT loci denote mutually exclusive events, suggesting separate mechanisms underlying the development of these tumors.
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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.