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Cited by 36Genetic factors in colorectal cancerAdrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

Adrenocortical carcinoma, an unusual extracolonic tumor associated with Lynch II syndrome

Medina-Arana, V., Delgado, L., González, L., Bravo, A., Díaz, H., Salido, E., Riverol, D., González-Aguilera, J. J. +1 more·2011·Familial Cancer
DOI 10.1007/s10689-010-9416-8
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Abstract

Lynch syndrome (LS) is an autosomal dominant condition that predisposes to colorectal cancer and specific other tumors. Extracolonic tumors occur mainly in the endometrium, stomach, ovary, small intestine and urinary tract. The presence of rare tumors in patients belonging to families who have Lynch syndrome is always interesting, because the question arises whether these tumors should be considered as a coincidence or are related with the syndrome. In this last case, they are also the result of the defect in the mismatch repair system, opening the possibility of extending the tumor spectrum associated with the syndrome. Here we describe a patient from a Lynch syndrome family with a germline mutation c.2063T>G (p.M688R) in the MSH2 gene, who developed an adrenal cortical carcinoma, a tumor not usually associated with LS. We analyzed the adrenocortical tumour for microsatellite instability (MSI), LOH and the presence of the germline c.2063T>G (M688R) mutation. The adrenal cortical carcinoma showed the MSH2 mutation, loss of heterozygosity of the normal allele in the MSH2 gene and loss of immunohistochemical expression for MSH2 protein, but no microsatellite instability. Additionally, the adrenal cortical carcinoma did not harbour a TP53 mutation. The molecular study indicates that this adrenal cortical cancer is probably due to the mismatch repair defect.

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  • ACC has been reported in patients with Lynch syndrome.

    “ACC has also been reported in patients with Lynch syndrome (53–56).”

    From Adrenocortical carcinoma (2014) · cites this paper as [54]

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Authors
Medina-Arana, V., Delgado, L., González, L., Bravo, A., Díaz, H., Salido, E., Riverol, D., González-Aguilera, J. J., & Fernández-Peralta, A. M.
Affiliations
  • Hospital Universitario de Canarias (ES)
  • Universidad Autónoma de Madrid (ES)
Corresponding author
González-Aguilera, J. J.
ORCID
Venue
Familial Cancer
Publisher
Springer Science and Business Media LLC
Published
2011-01-12
Volume
10
Issue
2
Pages
265-271
ISSN
  • 1389-9600 (ISSN-L)
  • 1573-7292
DOI
10.1007/s10689-010-9416-8
OpenAlex
W1985683483
Cited by
36
References
27
Citations by year
2026: 2 · 2024: 2 · 2023: 1 · 2022: 1 · 2021: 3 · 2020: 1 · 2019: 5 · 2018: 4 · 2017: 3 · 2016: 1 · 2015: 3 · 2014: 1 · 2013: 4 · 2012: 3
FWCI
2.03
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Familial Cancer (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
Keywords
adrenocortical carcinoma, Lynch syndrome, mismatch repair deficiency, extracolonic tumors, loss of heterozygosity, microsatellite instability, TP53 mutation, hereditary cancer predisposition
MeSH terms
Adrenal Cortex Neoplasms, Colorectal Neoplasms, Hereditary Nonpolyposis, Female, Humans, Middle Aged, Mutation, Adrenocortical Carcinoma, Microsatellite Repeats, Loss of Heterozygosity, MutS Homolog 2 Protein

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