Abstract 52: Prevalence Of Somatic Activating Kras Mutations In Pediatric And Adult Sporadic Brain Arteriovenous Malformations

IntroductionSporadic brain arteriovenous malformations (bAVMs) are a potentially treatable cause of stroke disproportionately affecting young people. Non-inherited somatic activating mutations in KRAS have been reported in ~50% of bAVM specimens primarily from adults. We hypothesized that KRAS mutat...

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Published in:Stroke (1970) 2023-02, Vol.54 (Suppl_1), p.A52-A52
Main Authors: Winkler, Ethan A, Garcia, Joseph, Tsang, Cynthia, Nelson, Jeffrey, McCulloch, Charles, Weinsheimer, Shantel, Fox, Christine K, Fullerton, Heather, Ko, Nerissa, Su, Hua, Nowakowski, Tomasz, Cooke, Daniel L, Hetts, Steven, Guney, Ekin, PEKMEZCI, MELIKE, Tihan, Tarik, Lawton, Michael, Abla, Adib, Gupta, Nalin, Kim, Helen
Format: Article
Language:English
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Summary:IntroductionSporadic brain arteriovenous malformations (bAVMs) are a potentially treatable cause of stroke disproportionately affecting young people. Non-inherited somatic activating mutations in KRAS have been reported in ~50% of bAVM specimens primarily from adults. We hypothesized that KRAS mutations would be associated with an earlier age at diagnosis, larger bAVM size, or earlier time to hemorrhage. MethodsSporadic bAVM tissue and clinical data were collected from patients seen at our institution. Genotyping was performed by digital droplet polymerase chain reaction to detect KRAS mutations (p.G12D, p.G12V or p.Q61H) in three batches and coded as presence/absence of any KRAS mutation (primary predictor). Age at diagnosis was dichotomized into adults (18 years) or children (
ISSN:0039-2499
1524-4628
DOI:10.1161/str.54.suppl_1.52