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International Angiology 2019 April;38(2):157-70

DOI: 10.23736/S0392-9590.19.04154-3


language: English

Vascular anomalies: molecular bases, genetic testing and therapeutic approaches

Stefano PAOLACCI 1 , Alessandra ZULIAN 1, Alice BRUSON 1, Elena MANARA 2, Sandro MICHELINI 3, Raul E. MATTASSI 4, Byung-Boong LEE 5, Bruno AMATO 6, Matteo BERTELLI 2

1 Magi’s Lab, Rovereto, Trento, Italy; 2 Magi Euregio, Bolzano, Italy; 3 Department of Vascular Rehabilitation, San Giovanni Battista Hospital, Rome, Italy; 4 Center for Vascular Malformations, “Stefan Belov”, Clinical Institute Humanitas “Mater Domini”, Castellanza, Varese, Italy; 5 Center for the Lymphedema and Vascular Malformations, George Washington University, Washington DC, USA; 6 Department of Clinical Medicine and Surgery, “Federico II” University of Naples, Naples, Italy

INTRODUCTION: Vascular anomalies encompass an extremely heterogeneous group of congenital abnormalities of the vascular system. They include vascular tumors and malformations and have a prevalence of 4.5%. Vascular anomalies are frequently sporadic and associated with somatic mutations and/or a double-hit mechanism and are characterized by considerable phenotypic and genetic heterogeneity. The aim of this review was to provide a genetic description of vascular anomalies, the sequencing technologies used for their diagnosis and the drugs that may potentially be used for their treatment.
EVIDENCE ACQUISITION: PubMed, OMIM, Orphanet, Genetic Testing Registry and ClinicalTrials.gov were searched for monogenic vascular anomalies in order to evaluate the genetic tests (based on sequencing) currently used for their diagnosis, and for any drugs that could be useful to treat them.
EVIDENCE SYNTHESIS: From the search of the clinical synopsis section of OMIM and PubMed for vascular anomalies we selected 19 disorders with a known molecular etiology. From the search for pharmacological trials and therapies in the ClinicalTrials.gov and PubMed databases we selected 87 drugs.
CONCLUSIONS: Most genetic tests with validated clinical utility are based on a next generation sequencing (NGS) approach. Targeted NGS is indeed the best approach for the analysis of disorders with complex phenotypes and genetics and involvement of somatic mutations. Genetic diagnosis provides data for determine genotype-phenotype correlations, segregation and recurrence risk in families, and new targets for gene- or mutation-specific pharmacological therapies. Improvement of diagnostic techniques is needed to offer patients appropriate care, more focused follow-up, and hopefully drugs to treat their disorders.

KEY WORDS: Vascular malformations; Germ-line mutation; Pharmacology; Therapy

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