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Cited by 224Adrenal and Paraganglionic TumorsCancer-related Molecular PathwaysGenetic factors in colorectal cancer

An inherited mutation outside the highly conserved DNA-binding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors

Latronico, Ana Claudia, Pinto, Emilia Modolo, Domenice, Sorahia, Fragoso, Maria Candida Barisson Villares, Martin, Regina Matsunaga, Zerbini, Maria Claudia, Lucon, Antonio Marmo, Mendonca, Berenice Bilharinho·2001·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jcem.86.10.7957
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Abstract

Mutations of the p53 tumor suppressor gene are the single most common genetic alterations in human cancers. Recently, a distinct nucleotide substitution was identified in exon 10 of the p53 gene, leading to an Arg337His mutation in 97% of children with adrenocortical tumors from Southern Brazil. In the present study, we investigated the presence of this mutation in a larger series of 55 patients (37 adults and 18 children) with benign and malignant sporadic adrenocortical tumors. None of the patients had family cancer histories that conformed to the criteria for Li-Fraumeni syndrome. Twenty-one asymptomatic close relatives of patients with p53 mutations and 60 normal unrelated individuals were also studied. The missense Arg337His mutation was identified in 19 patients (14 children and 5 adults), and 8 of 11 cases studied had LOH. Among the 19 patients with the Arg337His mutation, only one boy and three adults showed fatal evolution or recurrent metastases. This mutation was also identified in heterozygous state in asymptomatic first-degree relatives of the patients, indicating that Arg337His mutation was inherited in most cases. In contrast, this mutation was not found in 120 alleles of normal unrelated controls. In conclusion, the germ line Arg337His mutation of p53 protein is present at a high frequency (77.7%) in children with benign or malignant sporadic adrenocortical tumors, but it is not restricted to the pediatric group, since 13.5% of adults with adrenocortical tumors also had this mutation. The presence of this mutation was related to unfavorable prognosis in most of the adults, but not in the children with adrenocortical tumors.

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Crossref · 10.1210/jcem.86.10.7957

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  • The p.R337H mutation is a low-penetrance tetramerization domain mutation in Southern Brazil.

    “One particular hot spot mutation has been described to date, which is the low-penetrance tetramerization domain p.R337H mutation in Southern Brazil (14, 37–39).”

    From Adrenocortical carcinoma (2014) · cites this paper as [38]

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Authors
Latronico, A. C., Pinto, E. M., Domenice, S., Fragoso, M. C. B. V., Martin, R. M., Zerbini, M. C., Lucon, A. M., & Mendonca, B. B.
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2001-10
Volume
86
Issue
10
Pages
4970-4973
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jcem.86.10.7957
OpenAlex
W2059880490
Cited by
224
References
20
Citations by year
2026: 4 · 2025: 4 · 2024: 5 · 2023: 6 · 2022: 11 · 2021: 7 · 2020: 17 · 2019: 7 · 2018: 8 · 2017: 5 · 2016: 7 · 2015: 12 · 2014: 15 · 2013: 14 · 2012: 12
FWCI
4.95
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 › Oncology › Cancer-related Molecular Pathways
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords
p53, adrenocortical tumors, germline mutations, inherited mutations, loss of heterozygosity, Li-Fraumeni syndrome, prognosis, pediatric adrenal tumors, metastasis, southern Brazil
MeSH terms
Adolescent, Adrenal Cortex Neoplasms, Adult, Binding Sites, Child, Child, Preschool, DNA, Female, Humans, Infant, Male, Middle Aged, Mutation, Genes, p53, Tumor Suppressor Protein p53, Conserved Sequence

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