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.
Mots clés
overgrowth syndrome Beckwith Wiedemann Simpson Golabi Behmel Sotos Perlman Weaver Malan PTEN hamartoma tumour syndrome PI3KCA related overgrowth syndrome
overgrowth syndrome
Beckwith Wiedemann
Simpson Golabi Behmel
Sotos
Perlman
Weaver
Malan
PTEN hamartoma tumour syndrome
PI3KCA related overgrowth syndrome
Origine : Fichiers produits par l'(les) auteur(s)