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Vascular anomalies: molecular bases, genetic testing and therapeutic approaches
Stefano Paolacci1, Alessandra Zulian2, Alice Bruson2
1Magi's Lab, Rovereto, Trento, Italy - stefano.paolacci@assomagi.org.
Insights
Genetic testing for vascular anomalies, including tumors and malformations, primarily uses next-generation sequencing (NGS). This approach aids in diagnosis, understanding genetic links, and identifying potential drug therapies for these heterogeneous conditions.
Area of Science:
- Genetics
- Vascular Biology
- Medical Diagnostics
Background:
- Vascular anomalies are diverse congenital conditions affecting blood vessels, with a 4.5% prevalence.
- These anomalies often arise sporadically, linked to somatic mutations and exhibit significant genetic and phenotypic variability.
- Understanding their genetic basis is crucial for diagnosis and treatment.
Purpose of the Study:
- To review the genetic underpinnings of vascular anomalies.
- To describe sequencing technologies employed in their diagnosis.
- To identify potential therapeutic drugs for vascular anomalies.
Main Methods:
- Searched PubMed, OMIM, Orphanet, Genetic Testing Registry, and ClinicalTrials.gov.
- Focused on monogenic vascular anomalies and sequencing-based diagnostic tests.
- Identified potential therapeutic drugs through database searches.
Main Results:
- Identified 19 vascular anomaly disorders with known molecular causes.
- Selected 87 drugs from clinical trials and therapy databases for potential use.
- Next-generation sequencing (NGS) is the predominant method for genetic testing.
Conclusions:
- Targeted NGS is optimal for complex vascular anomaly phenotypes and somatic mutations.
- Genetic diagnosis informs genotype-phenotype correlations and recurrence risks.
- Improved diagnostic techniques are essential for better patient care and targeted therapies.
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.
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