【佳学基因检测】儿童期皮肤斑块丛状神经鞘瘤对 2 型神经纤维瘤病的早期遗传诊断

国内肿瘤基因检测十大公司解释

小组讨论皮肤斑块丛状神经鞘瘤的基因检测基因解码如何创新治疗，并在《肿瘤个性治疗的方法与措施》中共同研究《JAMA Dermatol》在. 2018 Mar 1;154(3):341-346.发表了一篇题目为《儿童期皮肤斑块丛状神经鞘瘤对 2 型神经纤维瘤病的早期遗传诊断》肿瘤靶向药物治疗基因检测临床研究文章。该研究由Elisabeth Castellanos , Adrià Plana , Cristina Carrato , Meritxell Carrió , Inma Rosas , Emilio Amilibia , Francesc Roca-Ribas , Cristina Hostalot , Alicia Castillo , Andrea Ros , Ariadna Quer , Juan Luis Becerra , Hector Salvador , Conxi Lázaro , Ignacio Blanco , Eduard Serra , Isabel Bielsa , for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP等完成。促进了肿瘤的精准治疗向皮肤斑块丛状神经鞘瘤更变细化的临床细分表现演进，说明了部分基因检测机构在这一领域的深耕细作。

选择肿瘤靶向药的基因检测临床研究内容关键词：

神经纤维瘤病,NF2,遗传病,临床基因检测,诊断性,诊断型

肿瘤靶向治疗基因检测临床应用结果

神经系统肿瘤基因检测研究的重要性：2 型神经纤维瘤病 (NF2) 是一种破坏性遗传病，其特征是发展为神经系统的多个肿瘤。 NF2 个体的早期诊断将有助于治疗和减少疾病影响，因为该疾病的最严重影响通常不会在青春期之前发生。传统上很少关注 NF2 中的皮肤病学体征。然而，皮肤斑块常见于 NF2 患者，通常出现在出生或儿童早期，为早期 NF2 检测和测试提供了机会。神经系统肿瘤基因检测研究目的：确定儿童皮肤斑块识别和表征的临床效用，以达到早期NF2 患者的诊断并评估其分子发病机制及其在 NF2 遗传诊断中的应用。设计、设置和参与者：通过 NF2 患者皮肤斑块的组织学和遗传特征进行的诊断测试研究。患者为 7 名患有 NF2 或临床怀疑为 NF2 的个体，在西班牙 Phakomatoses 参考中心接受治疗。主要结果和措施：对所有皮肤斑块进行组织学评估。培养新鲜皮肤斑块以获得雪旺氏细胞，并对NF2基因进行基因分析。对于所有 7 名患者，回顾了 NF2 临床病史。神经系统肿瘤基因检测研究结果：在所有 7 名患者（4 名男性和 3 名女性）中，分析的所有皮肤斑块在组织学上均被表征为丛状神经鞘瘤。源自它们的原代雪旺细胞培养物的遗传分析允许鉴定构成和体细胞 NF2 突变。基因检测允许对仅表现出皮肤斑块的儿童进行 NF2 的早期诊断。分析的大多数 NF2 患者早期出现皮肤斑块和严重的 NF2 表型。结论和相关性：这项工作强调了仔细皮肤病学检查和正确识别儿童皮肤斑块以早期诊断 NF2 的临床实用性.肿瘤基因解码首次表明，源自皮肤斑块丛状神经鞘瘤的雪旺氏细胞具有 NF2 基因的双重失活，因此构成了用于基因检测的极好组织来源，尤其是在嵌合体的情况下。

肿瘤发生与复发转移国际数据库描述：

Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing.Objective: To determine the clinical utility of skin plaque identification and characterization in children for reaching an early diagnosis of patients with NF2 and to evaluate their molecular pathogenesis and their use in the genetic diagnostics of NF2.Design, setting, and participants: Diagnostic test study by the histological and genetic characterization of skin plaques from patients with NF2. Patients were 7 individuals with NF2 or clinical suspicion of NF2 treated at the Spanish Reference Center on Phakomatoses.Main outcomes and measures: Histological evaluation of all skin plaques was performed. Fresh skin plaques were cultured to obtain Schwann cells and the NF2 gene was genetically analyzed. For all 7 patients, NF2 clinical history was reviewed.Results: In all 7 patients (4 male and 3 female), all skin plaques analyzed were histologically characterized as plexiform schwannomas. Genetic analysis of primary Schwann cell cultures derived from them allowed the identification of a constitutional and a somatic NF2 mutation. Genetic testing allowed the early diagnosis of NF2 in a child only exhibiting the presence of skin plaques. Most of the patients with NF2 analyzed had an early presentation of skin plaques and a severe NF2 phenotype.Conclusions and relevance: This work emphasizes the clinical utility of a careful dermatological inspection and the correct identification of skin plaques in children for an early diagnosis of NF2. We show for the first time that Schwann cells derived from skin plaque plexiform schwannomas bear the double inactivation of the NF2 gene and thus constitute an excellent source of tissue for genetic testing, especially in the context of mosaicism.