Activating KRAS mutations in arteriovenous malformations of the brain: frequency and clinicopathologic correlation

David S. Priemer, Alexander Vortmeyer, Shaobo Zhang, Hsim Yee Chang, Kendra L. Curless, Liang Cheng

Research output: Contribution to journalArticle

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Abstract

Arteriovenous malformations (AVM) of the brain are considered congenital. Most AVMs are presumably sporadic; however, rare familial cases occur and they may be observed in certain genetic disorders. We sought to determine the frequency of KRAS mutations and their association with clinicopathologic characteristics. We searched our neuropathology database from 2014– 2017 for resected AVMs of the brain or dura mater. Twenty-one AVMs were tested (12 females, 9 males; average age: 32 years). KRAS mutations were found in 6/21 cases (28.5%). Five mutations were p.G12 V, and one p.G12C. The KRAS-mutant group contained 4 females and 2 males, with an average age of 28 years, compared to 34 years in the non-mutant group (P = .54). The average AVM size in the KRAS-mutant group was 3.9 cm, compared to 3.1 cm in the non-mutant group (P = .52). There were no histologic differences between KRAS-mutant and non-mutant cases. In summary, KRAS mutations occur in almost one- third of brain AVMs. KRAS p.G12 V was the most common mutation identified. We also demonstrate the first reported instance of a KRAS p.G12C mutation in a brain AVM. The mean age of patients with KRAS-mutant AVMs was lower than the non-mutant group, and the mean size larger. Histologic characteristics were equally distributed between KRAS-mutant and non-mutant groups.

Original languageEnglish (US)
Pages (from-to)33-39
Number of pages7
JournalHuman pathology
Volume89
DOIs
StatePublished - Jul 1 2019

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Arteriovenous Malformations
Mutation
Brain
Dura Mater
Inborn Genetic Diseases
Mutation Rate
Databases

Keywords

  • Arteriovenous malformation
  • Brain
  • Differential diagnosis
  • Hemangioma
  • KRAS
  • Molecular genetics

ASJC Scopus subject areas

  • Pathology and Forensic Medicine

Cite this

Activating KRAS mutations in arteriovenous malformations of the brain : frequency and clinicopathologic correlation. / Priemer, David S.; Vortmeyer, Alexander; Zhang, Shaobo; Chang, Hsim Yee; Curless, Kendra L.; Cheng, Liang.

In: Human pathology, Vol. 89, 01.07.2019, p. 33-39.

Research output: Contribution to journalArticle

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