【佳学基因检测】1型节段性神经纤维瘤病并发颅内多发动静脉瘘：病例研究

基因检测公司排名国内顺序

开题评估肿瘤启动预防及复发抑制基因检测《肿瘤基因突变度与预防策略的实施计划》《Clin Neurol Neurosurg》在. 2018 May;168:108-111.发表了一篇题目为《1型节段性神经纤维瘤病并发颅内多发动静脉瘘：病例研究》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Dian He , Yuan Li , Yunli Yu , Gang Cai , Fu Ouyang , Yuchan Lin , Hongjuan Lu , Lan Chu 等完成。促进了肿瘤的精准治疗与个性化用药的发展，进一步强调了基因信息检测与分析的重要性。

肿瘤靶向药物大数据临床研究内容关键词：

脑血管发育不良颅内动静脉瘘,颅内动静脉畸形,节段性神经纤维瘤病 1 型,发作

肿瘤靶向治疗基因检测临床应用结果

1型神经纤维瘤病 (NF1) 是一种罕见的常染色体显性遗传疾病，主要影响皮肤和神经系统。当临床特征仅限于身体的一个区域时，这种情况称为节段性 NF1（也称为 V 型神经纤维瘤病）。节段性 NF1 通常被认为是由于 NF1 基因的合子后突变导致的体细胞嵌合体，因此外周血中 NF1 基因异常的检测通常为阴性。在这里，我们报告了一名患有癫痫发作的 31 岁男性，他有经活检证实的神经纤维瘤病史，但没有神经纤维瘤病家族史。观察到多个高度提示 NF1 的体征和脑血管异常，包括头皮血管扩张、牙龈增生、皮肤肿块、皮肤结节和咖啡斑。脑 CT 血管造影和静脉造影显示多发颅内动静脉瘘。然而，外周血的 NF1 基因检测未能检测到任何编码外显子或相邻剪接位点的突变、缺失或重排。仍然需要对节段性 NF1 进行诊断。据我们所知，这是首例节段性 NF1 并发颅内多发动静脉瘘的病例研究。颅内动静脉瘘；颅内动静脉畸形；节段性神经纤维瘤病 1 型；发作。

肿瘤发生与复发转移国际数据库描述：

Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis. Multiple signs highly suggestive of NF1 and cerebrovascular abnormities were seen, including distended scalp vessels, gingival hyperplasia, cutaneous masses, skin nodules, and café-au-lait macules. Cerebral computed tomography angiography and venography revealed multiple intracranial arteriovenous fistula. However, NF1 genetic testing of peripheral blood failed to detect mutations, deletions or rearrangements in any of the coding exons or neighboring splice sites. A diagnosis of segmental NF1 was still warranted. To the best of our knowledge, this is the first case study of segmental NF1 complicated with multiple intracranial arteriovenous fistulas.Keywords: Cerebrovascular dysplasia; Intracranial arteriovenous fistula; Intracranial arteriovenous malformation; Segmental neurofibromatosis type 1; Seizure.