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Article

Unilateral vestibular schwannoma and meningiomas in a patient with PIK3CA-related segmental overgrowth: Co-occurrence of mosaicism for 2 rare disorders.

Clinical genetics - 1 Jan 2018

Mills J R, Moyer A M, Kipp B R, Poplawski A B, Messiaen L M, Babovic-Vuksanovic D

Abstract excerpt

A 28-year-old female with PIK3CA-related segmental overgrowth presented with headaches. She also had a unilateral vestibular schwannoma (VS), as well as 3 small (<2 cm) meningiomas, which according to the Manchester consensus diagnostic criteria for neurofibromatosis 2 (NF2) is sufficient for a clinical diagnosis. Analysis of blood revealed a mosaic PIK3CA c.2740G>A (p.Gly914Arg) mutation, confirming the...

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Share to Class I Phosphatidylinositol 3-Kinases
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Meningeal Neoplasms

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Source

Identifiers

PMID: 28737257
DOI: 10.1111/cge.13099

Genes

LZTR1
SMARCB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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