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An Inherited Mutation Outside the Highly Conserved DNA-Binding Domain of the p53 Tumor Suppressor Protein in Children and Adults with Sporadic Adrenocortical Tumors
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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“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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Else, T., Kim, A. C., Sabolch, A., Raymond, V. M., Kandathil, A., Caoili, E. M., Jolly, S., Miller, B. S., Giordano, T. J., & Hammer, G. D. (2014) · Endocrine Reviews · doi:10.1210/er.2013-1029 · Cited by 892
Custódio, G., Parise, G. A., Kiesel Filho, N., Komechen, H., Sabbaga, C. C., Rosati, R., Grisa, L., Parise, I. Z. S., Pianovski, M. A. D., Fiori, C. M. C. M., et al. (2013) · Journal of Clinical Oncology · doi:10.1200/jco.2012.46.3711 · Cited by 201
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Molecular genetics of adrenocortical tumours, from familial to sporadic diseases
Libé, R., & Bertherat, J. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.02004 · Cited by 168
Metadata
- 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
- 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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