% 0期刊文章% Usman Shehzad % Patricia Coyle亚历山大Ou % % Agnes Kowalska % T罕见的恶性粘液瘤的动脉瘤与PRKAR1A基因突变(P2.243) % D J神经病学2018% % P P2.243 % V 90% N 15补充% X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首页。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。她的课程是复杂需要抗生素和我的伤口感染;血培养结果为阴性。七个月后,她头痛。对出血性转移重复成像显示多个病变有关。脑血管造影显示许多双边小粘液瘤的动脉瘤。这是决定跟着她频繁的血管造影检查。在接下来的6个月,病人继续体验恶化头痛和精神混乱的事件。重复成像显示的大小增加颅内出血的粘液瘤的动脉瘤。 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. %U

map