【佳学基因检测】神经鞘瘤患者独特的低表皮神经纤维密度为诊断和鉴别诊断提供了主要参数

2022年靶向药价格一览表—目的

课题调研肿瘤个性化药物研究路径《肿瘤基因突变度与预防策略的实施计划》《Brain Pathol》在. 2020 Mar;30(2):386-391.发表了一篇题目为《神经鞘瘤患者独特的低表皮神经纤维密度为诊断和鉴别诊断提供了主要参数》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Said C Farschtschi , Lan Kluwe  , Gerhard Schön , Reinhard E Friedrich , Jakob Matschke , Markus Glatzel , Joachim Weis , Christian Hagel , Victor-Felix Mautner 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。

选择肿瘤靶向药的基因检测临床研究内容关键词：

IEND,2型神经纤维瘤病,神经鞘瘤病,皮肤活检,小纤维神经病变

肿瘤靶向治疗基因检测临床应用结果

神经鞘瘤病和 2 型神经纤维瘤病 (NF2) 是两种不同的神经遗传性肿瘤易感性疾病，然而，它们具有一些临床和遗传特征。虽然 NF2 基因的种系突变仅在 NF2 中发现，但大多数神经鞘瘤病患者在 SMARCB1 或 LZTR1 基因中有种系突变。重叠的临床表型对这两种疾病的鉴别诊断和风险分层提出了严峻挑战，这两种疾病的频繁嵌合使这进一步复杂化。慢性神经性疼痛是小纤维神经病变的典型后果，是神经鞘瘤病的特征。相比之下，NF2 患者没有慢性疼痛，但可能有中度至重度的感觉障碍和麻痹，这不是神经鞘瘤病的特征。在本研究中，我们在 34 名临床确诊的神经鞘瘤病和 25 名 NF2 患者的皮肤活检中测定了表皮内神经纤维密度 (IEND)。在 NF2 组中，11/25 (44%) 的 IEND 低于年龄和性别匹配的底部 5% 规范参考 IEND。相比之下，几乎所有 (33/34 = 97%) 神经鞘瘤病患者的 IEND 均低于或低于 5% 标准参考值。神经鞘瘤病患者 IEND 的降低与年龄无关。配对 t 检验显示 NF2-IEND 和相应的底部 5% 规范参考之间没有差异 (P = 0.98)。相比之下，神经鞘瘤病患者的 IEND 显着低于相应的 5% 标准参考 IEND（P < 0.0001）。此外，我们患者的 IEND 与 5% 最低标准参考 IEND 之间的差异在神经鞘瘤病患者中显着大于 NF2 患者（P < 0.0001）。我们患者的 IEND 与 NF2 和 LZTR1 基因中的种系突变的存在和类型均不相关。总之，神经鞘瘤患者的IEND显着降低，为诊断和鉴别诊断提供了一个主要参数。 2型神经纤维瘤病；神经鞘瘤病；皮肤活检；小纤维神经病变。

肿瘤发生与复发转移国际数据库描述：

Schwannomatosis and neurofibromatosis type 2 (NF2) are two distinct neuro-genetic tumor predisposition disorders, which, however, share some clinical and genetic features. While germline mutations in the NF2 gene are only found in NF2, a majority of schwannomatosis patients have germline mutations in the SMARCB1 or LZTR1 genes. The overlapping clinical phenotypes pose a serious challenge in differential diagnosis and in risk stratification of these two entities which is further complicated by frequent mosaicism in both disorders. Chronic neuropathic pain which is a typical consequence of small fiber neuropathy, is characteristic for schwannomatosis. By contrast, NF2 patients do not have chronic pain but may have moderate to severe sensory deficits and paresis which are not characteristic for schwannomatosis. In the present study, we determined intraepidermal nerve fiber density (IEND) in skin biopsies of 34 clinically ascertained schwannomatosis and 25 NF2 patients. In the NF2 group, 11/25 (44%) presented with IEND below the age- and gender-matched bottom 5% normative reference IEND. In contrast, nearly all (33/34 = 97%) schwannomatosis patients showed IEND below or on the bottom 5% normative reference. The reduction of IEND in schwannomatosis patients was age-independent. Paired t-test revealed no difference between the NF2-IEND and the corresponding bottom 5% normative reference (P = 0.98). By contrast, IEND in the schwannomatosis patients were highly significantly lower than the corresponding 5% normative reference IEND (P < 0.0001). In addition, the difference between the IEND of our patients and the 5% lowest normative reference IEND was highly significantly larger in schwannomatosis patients than in NF2 patients (P < 0.0001). IEND of our patients did not correlate with neither the presence nor types of germline mutations in neither the NF2 nor the LZTR1 gene. In conclusion, schwannomatosis patients have marked low IEND which provides a major parameter for diagnosis and differential diagnosis.Keywords: IEND; neurofibromatosis type 2; schwannomatosis; skin biopsy; small fiber neuropathy.