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Article Dans Une Revue Nature Reviews Endocrinology Année : 2019

Overgrowth syndromes: review of clinical and molecular aspects and tumour risk.

Résumé

Overgrowth syndromes are a heterogeneous group of rare disorders characterised by generalized or segmental excessive growth, commonly associated with additional features. They are caused by either genetic or epigenetic defects, affecting factors involved in cell proliferation and/or the regulation of epigenetic marks. Some of these conditions are associated with neurological anomalies, such as macrocephaly, cognitive impairment, or autism. Overgrowth syndromes are frequently associated with an increased risk of cancer (embryonic tumours during infancy or carcinomas during adulthood), but with a highly variable prevalence. Given this risk, syndrome-specific tumour screening protocols have recently been established for some of these conditions. Certain specific clinical traits make it possible to discriminate between different syndromes and orient molecular explorations, despite clinical overlaps. Recent advances in molecular techniques using next generation sequencing approaches have increased the number of patients with an identified molecular defect (especially patients with segmental overgrowth). This review will focus on the clinical and molecular diagnosis, tumour risk, and recommendations for tumour screening for the most prevalent generalized and segmental overgrowth syndromes.
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hal-03847645 , version 1 (17-03-2023)

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  • HAL Id : hal-03847645 , version 1

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Frédéric Brioude, Annick Toutain, Eloïse Giabicani, Edouard Cottereau, Valérie Cormier-Daire, et al.. Overgrowth syndromes: review of clinical and molecular aspects and tumour risk.. Nature Reviews Endocrinology, 2019. ⟨hal-03847645⟩
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