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Priemer, David S.; Vortmeyer, Alexander O.; Zhang, Shaobo; Chang, Hsim Yee; Curless, Kendra L.; Cheng, Liang
Human pathology, July 2019, 2019-07-00, 20190701, Letnik: 89Journal Article
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. •Most brain arteriovenous malformations are presumably sporadic, but rare familial cases have been reported.•KRAS mutations occur in almost one-third of brain arteriovenous malformations (AVMs).•All observed clinical and histologic data of brain AVMs were equally distributed and similarly present in all AVMs, regardless of KRAS status.
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in: SICRIS
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