Genetic testing for lymphatic malformations with or without primary lymphedema

• Main Authors: Paolacci Stefano, Rakhmanov Yeltay, Maltese Paolo Enrico, Zulian Alessandra, Michelini Sandro, Bertelli Matteo
• Format: Article
• Language: English
• Published: Sciendo 2018-09-01
• Series: The EuroBiotech Journal
• Subjects: primary lymphatic malformations; germline mutations; somatic mutations; ebtna utility gene test
• Online Access: https://doi.org/10.2478/ebtj-2018-0024

Lymphatic malformations (LMs) show phenotypic variability, as well as clinical and genetic heterogeneity. Inheritance is autosomal dominant, recessive or X-linked and major genes involved in predisposition for LMs are continuously being discovered. The literature also indicates that somatic mutations play an important role in the development of LMs. In fact, activating somatic mutations in PIK3CA have been reported in lymphatic endothelial cells obtained from patients with different kinds of LM. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.