Investigation of BRAFand CTNNB1 activating mutations in adrenocortical tumors
Abstract
Background Activating mutations of the BRAF oncogene play a central role in the development of various cancer types, but their role in human adrenocortical tumors is unknown. At variance, activating mutations of another oncogene, CTNNB1, which encodes beta-catenin, have been shown to be common events in both benign and malignant adrenocortical tumors.Aim To investigate the prevalence of BRAF and CTNNB1 activating mutations in sporadic adrenocortical tumors.Materials and methods Tissue samples from 15 adrenocortical carcinomas and 41 adrenocortical adenomas were investigated for the presence of BRAF and CTNNB1 activating mutations by PCR amplification and direct sequencing.Results An advanced invasive non-functioning adrenocortical carcinoma carried a somatic heterozygous BRAF V600E mutation, while 4 functioning and 4 non-functioning adenomas and 3 functioning carcinomas carried different CTNNB1 activating mutations.Conclusions Activating BRAF somatic mutations may be occasionally found in advanced adrenocortical carcinomas, while CTNNB1 activating mutations are early and common events in adrenal tumorigenesis.
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High-grade ACCs are enriched for mutations of TP53 and/or CTNNB1, and these mutations tend to be mutually exclusive.
“High-grade ACCs are enriched for mutations of TP53 (14, 140–142) and/or CTNNB1 (143–149), and these mutations tend to be mutually exclusive (reviewed in Ref. 150).”
From Adrenocortical carcinoma (2014) · cites this paper as [148]
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- Authors
- Masi, G., Lavezzo, E., Iacobone, M., Favia, G., Palù, G., & Barzon, L.
- Affiliations
- University of Padua (IT)
- Corresponding author
- Palù, G.
- Barzon, L.
- Venue
- Journal of Endocrinological Investigation
- Published
- 2009-05-15
- Volume
- 32
- Issue
- 7
- Pages
- 597-600
- ISSN
- 0391-4097 (ISSN-L)
- 1720-8386
- OpenAlex
- W2073791502
- Cited by
- 29
- References
- 25
- Citations by year
- 2026: 1 · 2024: 1 · 2020: 1 · 2018: 2 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 1 · 2013: 5 · 2012: 4
- FWCI
- 4.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Journal of Endocrinological Investigation (publishedVersion)
- PubMed (publishedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Funders
- Università degli Studi di Padova
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- BRAF mutation, CTNNB1 mutation, adrenocortical tumors, adrenocortical carcinoma, adrenal adenoma, β-catenin, BRAF V600E mutation, somatic mutations
- MeSH terms
- Adrenal Cortex Neoplasms, Adult, Aged, Cell Transformation, Neoplastic, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Mutation, Proto-Oncogene Proteins B-raf, beta Catenin, Young Adult
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