The DOI matches its Crossref record; 308 of the 313 references it cites were found in a registry or an index.
Risk of tumorigenesis in overgrowth syndromes: A comprehensive review
Abstract
Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders in which the main characteristic is that either weight, height, or head circumference is 2-3 standard deviations (SD) above the mean for sex and age. A striking feature of OGS is the risk of neoplasms. Here, the relative frequency of specific tumors in each OGS, topographic location, and age of appearance is determined by reviewing published cases. In some OGS (Perlman, Beckwith-Wiedemann, and Simpson-Golabi-Behmel syndromes and hemihyperplasia) more than 94% of tumors appeared in the abdomen usually before 10 years of age, mainly embryonal in type. In Perlman syndrome, only Wilms tumor has been recorded, whereas in Sotos syndrome, lympho-hematologic tumors are most frequent. Based on literature review, a specific schedule protocol for tumor screening is suggested for each OGS. A schedule with different intervals and specific tests is proposed for a more rational cost/benefit program for these disorders.
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“Although data vary significantly, ACC comprises 5% to 15% of malignancies in BWS (43, 44).”
From Adrenocortical carcinoma (2014) · cites this paper as [43]
In the citing paper
“Due to the low overall incidence (<1% of children with BWS will develop an ACC), no specific screening recommendations for ACC exist.”
From Adrenocortical carcinoma (2014) · cites this paper as [43]
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Metadata
- Authors
- Lapunzina, P.
- Affiliations
- Dalhousie University (CA)
- Corresponding author
- Lapunzina, Pablo
- ORCID
- Lapunzina, Pablo
- Venue
- American Journal of Medical Genetics Part C Seminars in Medical Genetics
- Publisher
- Wiley
- Published
- 2005-07-11
- Volume
- 137C
- Issue
- 1
- Pages
- 53-71
- ISSN
- 1552-4868 (ISSN-L)
- 1552-4876
- OpenAlex
- W2058376960
- Cited by
- 276
- References
- 313
- Citations by year
- 2026: 2 · 2025: 10 · 2024: 8 · 2023: 9 · 2022: 11 · 2021: 11 · 2020: 11 · 2019: 15 · 2018: 25 · 2017: 19 · 2016: 15 · 2015: 12 · 2014: 19 · 2013: 19 · 2012: 14
- FWCI
- 1.12
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- American Journal of Medical Genetics Part C Seminars in Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Syndromes and Imprinting
- Health Sciences › Medicine › Oncology › Sarcoma Diagnosis and Treatment
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Growth Hormone and Insulin-like Growth Factors
- Keywords
- overgrowth syndromes, carcinogenesis, Perlman syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, hemihyperplasia, Sotos syndrome, Wilms tumor, embryonal tumors, abdominal tumors
- MeSH terms
- Abnormalities, Multiple, Disease Susceptibility, Growth Disorders, Humans, Neoplasms, Syndrome
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