Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
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DOI：
10.3389/fneur.2019.00821
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发表时间：
2019-08-02
影响因子：
3.4
通讯作者：
Trollmann, Regina
中科院分区：
文献类型：
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作者：
Jansen, Anna C.;Belousova, Elena;Trollmann, Regina
结节性硬化症（TSC）的室管膜下巨细胞星形细胞瘤（SEGA）的发病和生长通常发生在儿童时期。关于成人TSC中SEGA进化的信息很少。在参加TOSCA的2211名患者中，803名成人中有220名（27.4%）曾经拥有SEGA。在186名成年期仍存在SEGA的患者中，153名（82.3%）仍无症状，33名（17.7%）报告曾出现与SEGA生长相关的症状。自上次扫描以来，186名成年人中有39人（21%）正在使用世嘉。除了一名SEGA患者外，所有患者的TSC2都发生了突变。在随访期间，14名成年人（2.4%）新诊断为SEGA，其中大多数患有TSC2突变。我们的研究结果表明，在成年期，特别是在TSC2突变的患者中，对新的或正在生长的SEGA进行监测也是有必要的。
The onset and growth of subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis complex (TSC) typically occurs in childhood. There is minimal information on SEGA evolution in adults with TSC. Of 2,211 patients enrolled in TOSCA, 220 of the 803 adults (27.4%) ever had a SEGA. Of 186 patients with SEGA still ongoing in adulthood, 153 (82.3%) remained asymptomatic, and 33 (17.7%) were reported to ever have developed symptoms related to SEGA growth. SEGA growth since the previous scan was reported in 39 of the 186 adults (21%) with ongoing SEGA. All but one patient with growing SEGA had mutations in TSC2. Fourteen adults (2.4%) were newly diagnosed with SEGA during follow-up, and majority had mutations in TSC2. Our findings suggest that surveillance for new or growing SEGA is warranted also in adulthood, particularly in patients with mutations in TSC2.