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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ACC comprises 5% to 15% of malignancies in BWS.
“Although data vary significantly, ACC comprises 5% to 15% of malignancies in BWS (43, 44).”
From Adrenocortical carcinoma (2014) · cites this paper as [43]
Less than 1% of children with BWS will develop an ACC.
“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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Marques, P., & Korbonits, M. (2018) · Frontiers in Neuroendocrinology · doi:10.1016/j.yfrne.2018.11.001 · Cited by 36 · see citing works
GPC3 mutations in seven patients with Simpson–Golabi–Behmel syndrome
Sakazume, S., Okamoto, N., Yamamoto, T., Kurosawa, K., Numabe, H., Ohashi, Y., Kako, Y., Nagai, T., & Ohashi, H. (2007) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.31822 · Cited by 36 · see citing works
Honeyman, J. N., & LaQuaglia, M. P. (2012) · Seminars in Pediatric Surgery · doi:10.1053/j.sempedsurg.2012.05.007 · Cited by 35 · see citing works
Identification of Glypican-3 as a potential metastasis suppressor gene in gastric cancer
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A New Overgrowth Syndrome is due to Mutations inRNF125
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Management of adrenal masses in patients with Beckwith–Wiedemann syndrome
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Acute lymphoblastic leukemia in Weaver syndrome
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Clinical and molecular studies on two further families with Simpson‐Golabi‐Behmel syndrome
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Hepatoblastoma in a Patient with Sotos Syndrome
Kato, M., Takita, J., Takahashi, K., Mimaki, M., Chen, Y., Koh, K., Ida, K., Oka, A., Mizuguchi, M., Ogawa, S., et al. (2009) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2009.06.039 · Cited by 31 · see citing works
- 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 › Pulmonary and Respiratory Medicine › 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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