【佳学基因检测】神经纤维瘤病的皮肤异常2

做个基因检测需要多少钱的不同答案

综述肿瘤基因学知识要点记录《Arch Dermatol》在. 1997 Dec;133(12):1539-43.发表了一篇题目为《神经纤维瘤病的皮肤异常2》肿瘤靶向药物治疗基因检测临床研究文章。该研究由V F Mautner , M Lindenau, M E Baser, L Kluwe, J Gottschalk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。

肿瘤药物有效性临床研究内容关键词：

2型,II型,神经纤维瘤,诊断标准,确定诊断,组织病理学,患病率

肿瘤靶向治疗基因检测临床应用结果

目的：确定神经纤维瘤病 2 (NF2) 皮肤异常的患病率、分布和组织病理学状况。设计：病例系列。地点：医院神经内科。患者：通过研讨会和出版物转诊的 88 例 NF2 患者的连续样本、遗传咨询，以及神经外科转诊； 81 例患者符合美国国立卫生研究院、Bethesda、Md、NF2 诊断标准，其中 7 例患者通过突变或分离分析确定诊断。主要结果测量：皮肤异常的患病率、分布和类型；选择主要用于医疗适应症的29个皮肤肿瘤的组织病理学特征。结果：52名患者（59.1%）有458个皮肤肿瘤，这是27.3%的患者首次出现的体征，通常表现为扁平发育不良肿瘤或皮下球形结节性肿瘤位于四肢和躯干的周围神经。虽然 29 名患者 (33.0%) 有咖啡牛奶斑，但只有 2 名患者有多达 6 个斑点。与病情较轻的患者相比，病情较重的患者皮肤肿瘤的患病率明显更高（24.0% 和 71.0%，P < .001），超过 10 个皮肤肿瘤（0.0% 和 27.4%，P = .004） 、扁平发育不良皮肤肿瘤（8.0% 和 54.8%，P < .001）和皮下球形结节性肿瘤（24.0% 和 58.1%，P = .004）。组织学分析的肿瘤主要是神经鞘瘤，但 5 例为神经纤维瘤，2 例为混合肿瘤。

肿瘤发生与复发转移国际数据库描述：

Objective: To determine the prevalence, distribution, and histopathological conditions of skin abnormalities in neurofibromatosis 2 (NF2).Design: Case series.Setting: Hospital neurology department.Patients: Consecutive sample of 88 patients with NF2 referred through workshops and publications, genetic counseling, and referral from neurosurgical departments; 81 patients met the National Institutes of Health, Bethesda, Md, NF2 diagnostic criteria and the diagnosis was established by mutation or segregation analyses in 7 patients.Main outcome measures: Prevalence, distribution, and type of skin abnormalities; histopathological features of 29 skin tumors selected primarily for medical indications.Results: Fifty-two patients (59.1%) had 458 skin tumors, which were the first presenting sign in 27.3% of patients and usually appeared as flat dysplastic tumors or subcutaneous spherical nodular tumors of the peripheral nerves, on the limbs and trunk. Although 29 patients (33.0%) had café au lait spots, only 2 patients had as many as 6 spots. compared with patients with milder disease, patients with more severe disease had a significantly greater prevalence of skin tumors (24.0% and 71.0%, P < .001), more than 10 skin tumors (0.0% and 27.4%, P = .004), flat dysplastic skin tumors (8.0% and 54.8%, P < .001), and subcutaneous spherical nodular tumors (24.0% and 58.1%, P = .004). The histologically analyzed tumors were predominantly schwannomas, but 5 were neurofibromas and 2 were mixed tumors.

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