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Article

Identification of Somatic Genetic Variants in Superficial Vascular Malformations by Liquid Biopsy in a Cohort of 88 Patients from a French Hospital.

Molecular diagnosis & therapy - 1 May 2025

El Sissy Franck Neil, Bisdorff Annouk, Perrier Alexandre, Guillerm Erell, Denis Jérôme, Favre Löetitia, Aubertin Mathilde, Eyries Mélanie, Coulet Florence

Abstract excerpt

BACKGROUND AND OBJECTIVE: Superficial vascular anomalies are complex disorders characterized by abnormal vascular growth. Next-generation sequencing has recently identified somatic genetic alterations associated with these malformations, offering new insights for targeted treatments. However, tissue biopsies for genetic testing can be invasive and difficult to obtain, especially in arteriovenous malformations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39899252
DOI: 10.1007/s40291-025-00770-0

Genes

KRAS
MAP2K1
PIK3CA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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