Bilateral adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1 (MEN1) and a novel mutation in the MEN1 gene
Open accessAbstract
The incidence of adrenal involvement in MEN1 syndrome has been reported between 9 and 45%, while the incidence of adrenocortical carcinoma (ACC) in MEN1 patients has been reported between 2.6 and 6%. In the literature data only unilateral development of ACCs in MEN1 patients has been reported. We report a 31 years-old female MEN1-patient, in whom hyperplasia of the parathyroid glands, prolactinoma, non functioning pancreatic endocrine carcinoma and functioning bilateral adrenal carcinomas were diagnosed. Interestingly, a not previously described in the literature data, novel germline mutation (p.E45V) in exon 2 of MEN1 gene, was detected. The association of exon 2 mutation of the MEN1 gene with bilateral adrenal carcinomas in MEN1 syndrome, should be further investigated.
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A small fraction of patients with MEN1 will develop ACC.
“A small fraction of patients with MEN1 will develop ACC (46–51).”
From Adrenocortical carcinoma (2014) · cites this paper as [49]
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- Authors
- Griniatsos, J. E., Dimitriou, N., Zilos, A., Sakellariou, S., Evangelou, K., Kamakari, S., Korkolopoulou, P., & Kaltsas, G.
- Affiliations
- National and Kapodistrian University of Athens (GR)
- ORCID
- Venue
- World Journal of Surgical Oncology
- Published
- 2011-01-25
- Volume
- 9
- Issue
- 1
- Pages
- 6-6
- ISSN
- 1477-7819 (ISSN-L)
- PMC
- PMC3039620
- OpenAlex
- W2110454811
- Cited by
- 22
- References
- 39
- Citations by year
- 2024: 1 · 2022: 2 · 2021: 1 · 2020: 2 · 2019: 2 · 2018: 3 · 2016: 2 · 2015: 1 · 2014: 1 · 2013: 4 · 2012: 2
- FWCI
- 2.62
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- World Journal of Surgical Oncology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Epidemiology › Neuroendocrine Tumor Research Advances
- Health Sciences › Medicine › Oncology › Ear and Head Tumors
- Keywords
- adrenocortical carcinoma, multiple endocrine neoplasia type 1, MEN1 gene, exon 2, parathyroid hyperplasia, prolactinoma, pancreatic neuroendocrine tumors
- MeSH terms
- Adrenal Cortex Neoplasms, Adult, Exons, Female, Humans, Prognosis, Proto-Oncogene Proteins, Germ-Line Mutation, Adrenocortical Carcinoma, Multiple Endocrine Neoplasia Type 1
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