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Cited by 109Adrenal and Paraganglionic TumorsGenetic factors in colorectal cancerCancer-related Molecular Pathways

TP53 Germline Mutations in Adult Patients with Adrenocortical Carcinoma

Herrmann, Leonie J. M., Heinze, Britta, Fassnacht, Martin, Willenberg, Holger S., Quinkler, Marcus, Reisch, Nicole, Zink, Martina, Allolio, Bruno +1 more·2012·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2011-1982
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Abstract

CONTEXT: Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome associated with germline mutations in TP53. According to the Chompret criteria for LFS, any patient with adrenocortical cancer (ACC), irrespective of age and family history, is at high risk for a TP53 germline mutation. However, whereas such mutations have been detected with high frequency in childhood ACC, a large cohort of adult patients with ACC has never been investigated for TP53 germline mutations. OBJECTIVE: The aim of the study was to evaluate the prevalence of TP53 germline mutations in adult patients with ACC. SUBJECTS AND METHODS: In 103 adult Caucasian patients with ACC, TP53 germline mutation analysis was performed. In patients with a TP53 germline mutation, tumor tissue was analyzed for loss of heterozygosity of TP53 and p53 immunohistochemistry. Family history and clinical course were also evaluated. RESULTS: In four patients, a total of five TP53 germline mutations were found. Two mutations occurred in exon 10 (R337H and I332M, respectively), outside the hot spot region. Here, three mutations are described for the first time in ACC, and one, which occurred combined with a second mutation (R202C) on the same allele, has never been reported before in the context of LFS. This combined mutation was associated with a remarkable family history of ACC also affecting the mother and uncle of the index patient. In the 23 patients with ACC below the age of 40 yr, 13% (95% confidence interval, 3.7-32.9%) carried a TP53 germline mutation, whereas such mutations were rare in older patients with ACC. CONCLUSION: Our findings indicate a need to revise the Chompret criteria. However, in younger adults (<40 yr old) with ACC, screening for TP53 germline mutations may be justified.

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  • The prevalence of TP53 mutations in the adult ACC population is between 3% and 7%, as determined by 2 recent studies.

    “However, the contribution of germline TP53 mutations to ACC development in adults had been not well researched until 2 recent studies determined the prevalence of TP53 mutations between 3% and 7% in the adult population (35, 36).”

    From Adrenocortical carcinoma (2014) · cites this paper as [35]

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Authors
Herrmann, L. J. M., Heinze, B., Fassnacht, M., Willenberg, H. S., Quinkler, M., Reisch, N., Zink, M., Allolio, B., & Hahner, S.
Affiliations
  • University of Würzburg (DE)
  • Düsseldorf University Hospital (DE)
  • Charité – Universitätsmedizin Berlin (DE)
  • LMU Klinikum (DE)
Corresponding author
Hahner, Stefanie
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2012-03-01
Volume
97
Issue
3
Pages
E476-E485
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2011-1982
OpenAlex
W2057663570
Cited by
109
References
54
Citations by year
2026: 5 · 2025: 2 · 2024: 8 · 2023: 2 · 2022: 4 · 2021: 8 · 2020: 10 · 2019: 3 · 2018: 10 · 2017: 3 · 2016: 9 · 2015: 16 · 2014: 11 · 2013: 12 · 2012: 5
FWCI
9.16
Type
journal article
Language
en
Open access
closed
Locations
  • The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
Keywords
germline TP53 mutation, adrenocortical carcinoma, Li-Fraumeni syndrome, loss of heterozygosity, p53 immunohistochemistry, exon 10 mutations, hereditary cancer predisposition, germline mutation testing, adult patients
MeSH terms
Adolescent, Adrenal Cortex Neoplasms, Adult, Aged, Female, Humans, Male, Middle Aged, Registries, Tumor Suppressor Protein p53, Li-Fraumeni Syndrome, Age of Onset, Germ-Line Mutation, Adrenocortical Carcinoma, Loss of Heterozygosity, Genetic Predisposition to Disease

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