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High Frequency of Germline p53 Mutations in Childhood Adrenocortical Cancer
Abstract
BACKGROUND: Adrenocortical carcinoma (ADCC) is a rare childhood cancer, affecting three of 1 million children younger than 16 years old in the United States. ADCC may be found in association with the Li-Fraumeni and Beckwith-Wiedemann syndromes. Children with ADCC are also at substantially increased risk of second primary cancers. Because of these associations, it is believed that the genetic basis for ADCC is stronger than for most childhood malignancies. Germline mutations of the TP53 tumor suppressor gene are associated with cancer predisposition in families with the Li-Fraumeni syndrome as well as in individuals with sporadically occurring component tumors of the syndrome. PURPOSE: We investigated the possibility that germline TP53 gene alterations existed in children with ADCC. METHODS: Sixteen children with ADCC under the age of 18 were identified from searches of medial oncology records at three Canadian hospitals. Eleven of these 16 patients identified were alive. The mean age at diagnosis was 4.8 years (range, 1-17 years). Family histories were obtained for 11 unselected children with ADCC (six girls and five boys). Pathologic confirmation of tumor diagnosis was obtained from the medical records. Using single-strand conformational polymorphism analysis followed by single-strand DNA sequencing, genomic DNA extracted from whole blood was analyzed for the presence of TP53 mutations for six living ADCC patients. RESULTS: Three of six (50%) children were found to carry germline TP53 mutations in exons 5, 6, and 7, respectively. Both wild-type and mutant alleles were identified in all three TP53 sequences, indicating that the patients were heterozygous for germline TP53 mutations. None of these children was from a family with the Li-Fraumeni syndrome. The mutation in one child was shown to be inherited from the mother, who subsequently developed breast cancer. A striking excess of cancer was found in one family of a patient carrying wild-type TP53. CONCLUSIONS: Our observation of a high frequency of germline TP53 mutations in children with sporadic ADCC suggests that these children may represent probands with which to ascertain Li-Fraumeni syndrome families. It may be reasonable for children with adrenocortical carcinoma to be candidates for germline TP53 analysis. In light of the wealth of information in the Li-Fraumeni literature that associates germline TP53 mutations with a variety of malignancies, this testing may have important consequences for risk assessment for other close relatives, including early-onset breast cancer in the mothers.
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“The relative increase in incidence in childhood is mainly explained by germline TP53 mutations, which are the underlying genetic cause of ACC in ∼50% to 80% of children with ACC (Table 1)(28–30).”
From Adrenocortical carcinoma (2014) · cites this paper as [30]
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Metadata
- Authors
- Wagner, J., Portwine, C., Rabin, K., Leclerc, J.-M., Narod, S. A., & Malkin, D.
- Affiliations
- McGill University (CA)
- Hospital for Sick Children (CA)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Corresponding author
- Malkin, D.
- Venue
- JNCI Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 1994-11-16
- Volume
- 86
- Issue
- 22
- Pages
- 1707-1710
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2092675326
- Cited by
- 227
- References
- 0
- Citations by year
- 2026: 5 · 2025: 2 · 2024: 5 · 2023: 2 · 2022: 7 · 2021: 3 · 2020: 6 · 2019: 2 · 2018: 9 · 2017: 4 · 2016: 5 · 2015: 12 · 2014: 7 · 2013: 6 · 2012: 10
- FWCI
- 4.78
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- JNCI Journal of the National Cancer Institute (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Adrenal and Paraganglionic Tumors
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- adrenocortical carcinoma, childhood cancer, germline TP53 mutation, Li-Fraumeni syndrome, Beckwith-Wiedemann syndrome, cancer susceptibility, secondary malignancies, hereditary cancer, heterozygous mutation carriers, genetic testing in children
- MeSH terms
- Adolescent, Adrenal Cortex Neoplasms, Base Sequence, Child, Child, Preschool, Female, Humans, Infant, Male, Molecular Sequence Data, Genes, p53, Germ-Line Mutation
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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