Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort

Area of Science:

• Genetics
• Pediatrics
• Vascular Biology

Background:

• Vascular anomalies (VA) present a complex diagnostic challenge in pediatric patients.
• A multidisciplinary approach is crucial for managing diverse VA cases.
• Genotyping offers potential for improved diagnostic accuracy and treatment strategies.

Purpose of the Study:

• To evaluate the phenotypic and genotypic spectrum of pediatric patients with vascular anomalies.
• To assess the clinical utility and impact of genetic testing on diagnosis and management.
• To determine the frequency of somatic and germline causes of VA.

Main Methods:

• Retrospective analysis of 250 pediatric patients over 46 months in a VA clinic.
• DNA extraction from vascular lesions followed by multiplex PCR and sequencing of 27 genes.
• Analysis of variant allele frequency (AF) and germline confirmatory testing.

Main Results:

• A molecular diagnosis was achieved in 76% (191/250) of patients.
• Somatic causes accounted for 70% and germline causes for 6% of VAs.
• Genetic testing supported or revised the clinical diagnosis in 76% of cases, leading to management changes in 33% and referral for molecularly targeted therapy (MTT) in 24%.

Conclusions:

• Routine genotyping in pediatric vascular anomalies enhances diagnostic precision.
• Genetic testing directly impacts patient management and treatment decisions.
• This approach facilitates the consideration of targeted therapies for improved outcomes.