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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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“Moreover, constitutional mutations of the p53 gene are frequently reported in young children with a diagnosis of ACTs [10,11], but are relatively rare in adults [12,13].”
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“TP53 mutations and the mechanisms and types of functional LOH in ACT are quite diverse, although germline mutations occur primarily in the TP53 DNA-binding domains (exons 4–8) [4,26,27].”
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Self-citationContribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome
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Future directions in the diagnosis and medical treatment of adrenocortical carcinoma
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BackgroundClinical characteristics of small functioning adrenocortical tumors in children
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Targeted genomic analysis of 364 adrenocortical carcinomas
Pozdeyev, N. V., Fishbein, L. M., Gay, L. M., Sokol, E. S., Hartmaier, R. J., Ross, J. S., Darabi, S., Demeure, M. J., Kar, A., Foust, L. J., et al. (2021) · Endocrine Related Cancer · doi:10.1530/erc-21-0040 · Cited by 30
Rosati, R., Cerrato, F., Doghman, M., Pianovski, M. A. D., Parise, G. A., Custódio, G., Zambetti, G. P., Ribeiro, R. C., Riccio, A., de Figueiredo, B. C., et al. (2008) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2008.05.010 · Cited by 29
“The possibility of abnormal fetal zone cell survival followed by proliferation is likely to occur whenever TP53 is nonfunctional, which happens in more than 50% of sporadic ACT cases or in cases linked to Li-Fraumeni syndrome [8,9].”
BackgroundInherited Susceptibility for Pediatric Cancer
Plon, S. E., & Nathanson, K. L. (2005) · The Cancer Journal · doi:10.1097/00130404-200507000-00002 · Cited by 28
Genetic background of adrenocortical tumor development
Kjellman, M., Larsson, C., & Bäckdahl, M. (2001) · World Journal of Surgery · doi:10.1007/s00268-001-0034-3 · Cited by 27
Germline TP53 mutational spectrum in French Canadians with breast cancer
Arcand, S. L., Akbari, M. R., Mes‐Masson, A., Provencher, D. M., Foulkes, W. D., Narod, S. A., & Tonin, P. N. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0169-y · Cited by 27
“As mentioned above (see Methods), the ACC cases in families F171 and F187 were tested for TP53 in the context of a study evaluating germline TP53 mutation in this disease [15].”
BackgroundSelf-citationMolecular pathology of adrenal cortical tumors: Separating adenomas from carcinomas
Giordano, T. J. (2006) · Endocrine Pathology · doi:10.1007/s12022-006-0007-z · Cited by 27
“Many studies have examined TP53 mutations in ACTs with quite variable results (19-33).”
Discerning Malignancy in Resected Adrenocortical Neoplasms
Sasano, H., Suzuki, T., & Moriya, T. (2001) · Endocrine Pathology · doi:10.1385/ep:12:4:397 · Cited by 27
Korah, R. M., Healy, J. M., Kunstman, J. W., Fonseca, A. L., Ameri, A. H., Prasad, M. L., & Carling, T. (2013) · Molecular Cancer · doi:10.1186/1476-4598-12-87 · Cited by 26
“The overall methylation profiles of normal and benign ACA samples were found to be very similar (57% and 60% respectively) while malignant ACCs showed a distinct statistically significant increase (86”
BackgroundRadford, D., & Zehnbauer, B. (1996) · Surgical Clinics of North America · doi:10.1016/s0039-6109(05)70434-5 · Cited by 16
Magnusson, S., Gisselsson, D., Wiebe, T., Kristoffersson, U., Borg, Å., & Olsson, H. L. (2012) · Pediatric Blood & Cancer · doi:10.1002/pbc.24223 · Cited by 25
“However, the observed mutation frequency in one of two patients with ACC and one of 18 patients with RMS is similar to previous findings [13,17].”
ResultChildhoood cancer predisposition: Applications of molecular testing and future implications
Nichols, K. E., Li, F. P., Haber, D. A., et al. (1998) · The Journal of Pediatrics · doi:10.1016/s0022-3476(98)70007-1 · Cited by 25
Childhood Adrenocortical Tumours: a Review
Pereira, R. M., DeLacerda, L., Lacerda, H. M., Michalkiewicz, E., Sandrini, F., & Sandrini, R. (2006) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-4-2-81 · Cited by 22
Surgical Management of Adrenocortical Carcinoma
Ranvier, G. G. F., & Inabnet, W. B. (2015) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2015.02.008 · Cited by 22
Choong, S. S., Latiff, Z. A., Mohamed, M. B., Lim, L. L., Chen, K., Vengidasan, L., Razali, H., Rahman, E. A., Ariffin, H., & for Malaysian Society of Paediatric Haematology‐Oncology (2012) · Clinical Genetics · doi:10.1111/j.1399-0004.2012.01841.x · Cited by 22
“reported that three of six patients with paediatric ACC carried TP53 mutations (18), while in the British series of Varley et al.”
BackgroundCeyhan‐Birsoy, O., Selenica, P., Chui, M. H., Jayakumaran, G., Ptashkin, R. N., Misyura, M., Aypar, U., Jairam, S., Yang, C., Li, Y., et al. (2021) · JNCI Journal of the National Cancer Institute · doi:10.1093/jnci/djab117 · Cited by 22
Bendig, I., Mohr, N., Krämer, F., & Weber, B. H. F. (2004) · Cancer Genetics and Cytogenetics · doi:10.1016/j.cancergencyto.2004.02.017 · Cited by 21
“Three of these patients harbored constitutional TP53 mutations suggesting that isolated but early occurrences of cancers such as rhabdomyosarcoma but also adrenocortical carcinomas, osteosarcomas and brain tumors [13–15] warrants the testing of the TP53 for possible de novo events.”
BackgroundStratakis, C. A., & Chrousos, G. P. (2000) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(05)70113-4 · Cited by 25
Germline p53 Mutation Presenting as Synchronous Tumors
Cavalier, M. E., Davis, M. M., & Croop, J. M. (2005) · Journal of Pediatric Hematology/Oncology · doi:10.1097/01.mph.0000176732.68090.c8 · Cited by 19
“Up to 80% of children with ACC and no familial features of LFS have germline p53 mutations; these children may represent probands of families that will later be identified as having LFS.(7) Varley et al has reported that ACC has the highest incidence of germline mutation of a tumor suppressor gene of any cancer.”
BackgroundMethodInfluentialAbsence of Germline and Somatic p53 Alterations in Children with Sporadic Brain Tumors
Portwine, C., Chilton‐MacNeill, S., Brown, C., Sexsmith, E., McLaughlin, J. R., & Malkin, D. M. (2001) · Journal of Neuro-Oncology · doi:10.1023/a:1010661831335 · Cited by 18
“We have previously shown that SSCP/DNA sequencing detects greater than 95% of mutations in the coding and flanking regions of p53 [21,35].”
BackgroundMethodSelf-citationGermline NGS targeted analysis in adult patients with sporadic adrenocortical carcinoma
Scatolini, M., Grisanti, S., Tomaiuolo, P., Grosso, E., Basile, V., Cosentini, D., Puglisi, S., Laganà, M., Perotti, P., Saba, L., et al. (2024) · European Journal of Cancer · doi:10.1016/j.ejca.2024.114088 · Cited by 21
McVeigh, T. P., Sundar, R., Diamantis, N., Kaye, S. B., Banerji, U., Lopez, J. S., Bono, J. S. D., van der Graaf, W. T. A., & George, A. J. (2018) · European Journal of Cancer · doi:10.1016/j.ejca.2018.02.028 · Cited by 18
“Most patients had undergone at least one line of systemic therapy in the adjuvant setting before consideration of a phase I clinical trial (Table 4), but the majority had a relatively short interval between diagnosis and referral for consideration of a phase I agent (Median time to referral 29 months (1-237), Table 4).”
BackgroundAbsence of germline p16 INK4a alterations in p53 wild type Li-Fraumeni syndrome families
Portwine, C., LEES, J., VERSELIS, S., et al. (2000) · Journal of Medical Genetics · doi:10.1136/jmg.37.8.e13 · Cited by 18
Self-citationMECHANISMS OF ENDOCRINOLOGY: Cell cycle regulation in adrenocortical carcinoma
Pereira, S. S., Monteiro, M. P., Bourdeau, I., Lacroix, A., & Pignatelli, D. (2018) · European Journal of Endocrinology · doi:10.1530/eje-17-0976 · Cited by 16
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
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