Multifocal Sporadic Venous Malformations in a Child Caused by a Novel Somatic Double Mutation of the TEK Gene: A Case Report and Literature Review.

Abstract excerpt

BACKGROUND: Multifocal sporadic venous malformations (MSVM) are a rare and severe subtype of venous malformations (VMs). Although somatic mutations in the TEK gene are frequently implicated in VMs, the clinical and molecular significance of harboring two distinct somatic mutations within a single lesion remains poorly understood. METHODS: DNA was extracted from both the lesion and peripheral blood, followed by...

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