Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder.

doi:10.1002/ajmg.a.62570

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Article

Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder.

American journal of medical genetics. Part A - 1 Mar 2022

Filippidis Aristotelis, Lidov Hart, Al-Ibraheemi Alyaa, See Alfred P, Srivastava Siddharth, Orbach Darren B, Fehnel Katie Pricola

Abstract excerpt

Gain of function PIK3CA pathogenic variants have been identified in overgrowth syndromes collectively termed "PIK3CA-related overgrowth spectrum" (PROS). There are no previously reported cases of cerebrovascular venous malformations in PROS syndromes, though somatic activating PIK3CA variants have been identified in extracranial venous malformation. This study was approved by the Institutional Review Boar at...

Topics

Adolescent
Animals
Class I Phosphatidylinositol 3-Kinases
Female
Humans
Meningeal Neoplasms
Meningioma
Mutation
Syndrome
Transcription Factors
Vascular Malformations

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Open in PubMed

Identifiers

PMID: 34854542
DOI: 10.1002/ajmg.a.62570

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