TY - T1的罕见的恶性粘液瘤的动脉瘤与PRKAR1A基因突变(P2.243) JF -神经学乔-神经学六世- 90 - 15补充SP - P2.243盟乌斯曼Shehzad盟——亚历山大·欧盟-帕特丽夏Coyle首页盟艾格尼丝Kowalska Y1 - 2018/04/10 UR - //www.ez-admanager.com/content/90/15_Supplement/P2.243.abstract N2 -目的:描述一个案例从零星的心房粘液瘤与恶性粘液瘤的动脉瘤PRKAR1A基因突变通常与卡尼复杂。背景:NADesign /方法:案例ReportResults:一名48岁的女性卵巢癌的s / p子宫全切术的历史有2016年髓梗死二级心房粘液瘤。她接受了心房粘液瘤的切除。Her course was complicated by wound infection requiring antibiotics and I&D; blood cultures were negative. Seven months later, she developed headaches. Repeat imaging showed multiple lesions concerning for hemorrhagic metastases. Cerebral angiogram showed numerous bilateral small myxomatous aneurysms. It was decided to follow her with frequent angiograms. Over the next 6 months, the patient continued to experience worsening headaches and confusional episodes. Repeat imaging revealed an increase in the size of the intracranial hemorrhages from the myxomatous aneurysms. Tissue from the atrial myxoma was sent for sequencing and a PRKAR1A mutation was identified. She was started on high dose steroids, followed by immunotherapy with specific PKA inhibitor KT5720.There is paucity of data for genotype-phenotype analysis of PRKAR1A mutation in sporadic atrial myxoma cases. However, for atrial myxomas associated with Carney Complex, studies suggest that patients without the PRKAR1A mutation have a later age of presentation and milder disease1. We hypothesize that the PRKAR1A mutation in sporadic cases also leads to an earlier age of onset, more severe disease, and requires aggressive management.Conclusions: NAStudy Supported by: noneDisclosure: Dr. Shehzad has nothing to disclose. Dr. Ou has nothing to disclose. Dr. Coyle has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Consulting fees (AbbVie, Accordant, Acorda, Bayer, Biogen Idec, Celgene, Genentech/Roche, Genzyme/Sanofi, Novartis, Serono, Teva). Dr. Coyle has received research support from Research support (Actelion, Alkermes, Genentech/Roche, MedDay, NINDS, Novartis, Opexa). Dr. Kowalska has nothing to disclose. ER -