Cited by 276Genetic Syndromes and ImprintingSarcoma Diagnosis and TreatmentGrowth Hormone and Insulin-like Growth Factors

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Risk of tumorigenesis in overgrowth syndromes: A comprehensive review

Lapunzina, Pablo·2005·American Journal of Medical Genetics Part C Seminars in Medical Genetics

DOI 10.1002/ajmg.c.30064

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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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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
DOI: 10.1002/ajmg.c.30064
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
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
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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