Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis,Clinical Genetics

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Updated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis
Clinical Genetics ( IF 2.9 ) Pub Date : 2023-02-10 , DOI: 10.1111/cge.14310
Dorothy Halliday _{1,

2} , Beatrice Emmanouil _{2,

3} , D Gareth R Evans ₄

Affiliation

Genetic testing and management of individuals at risk for NF2-related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later onset, more asymmetrical disease and the phenotypic overlap with the related schwannomatosis conditions. This updated protocol has been devised for the English NF2-related schwannomatosis service. It provides those affected with mosaic NF2-related schwannomatosis estimated risks of having an affected child; and management guidelines both for individuals at risk of NF2-related schwannomatosis, or with potential disease, due to having features that fall short of consensus diagnostic criteria. Risks of mosaicism and inferred transmission risks were derived from genetic testing of over 1000 individuals through the Manchester NF2 genetic testing service. This updated protocol, reflects the lower transmission risks now inferred in mosaic NF2-related schwannomatosis, informed by the greater sensitivity of Next Generation Sequencing in detecting low levels of mosaicism in blood, along with improved ability to analyse tumour DNA. Screening for features of NF2-related schwannomatosis is proposed until the risk of having the condition falls below a pragmatic threshold of 1%. Using these revised transmission figures, this threshold can now be reached at a younger age in many of those at risk, with earlier reassurance and discharge.

中文翻译：

有 NF2 相关神经鞘瘤病风险的个体的基因检测、筛查和临床管理的更新方案

处于NF2相关神经鞘瘤病风险中的个体的基因检测和管理因高嵌合率而变得复杂，导致更温和、晚发、更不对称的疾病以及与相关神经鞘瘤病症的表型重叠。这个更新的协议是为英国NF2相关的神经鞘瘤病服务设计的。它为患有马赛克NF2相关神经鞘瘤病的患者提供了生育受累儿童的估计风险；和管理指南，适用于有NF2风险的个人-相关的神经鞘瘤病或潜在疾病，由于其特征不符合共识诊断标准。通过曼彻斯特NF2基因检测服务对 1000 多人进行的基因检测得出了嵌合体风险和推断的传播风险。这一更新后的协议反映了现在推断的马赛克NF2相关神经鞘瘤的传播风险较低，这是因为下一代测序在检测血液中低水平马赛克方面具有更高的灵敏度，同时提高了分析肿瘤 DNA 的能力。筛选NF2的特征提出相关神经鞘瘤病，直到患该病的风险低于 1% 的实用阈值。使用这些修订后的传播数据，现在许多处于危险中的人可以在更年轻的时候达到这个阈值，并且可以更早地保证和出院。

更新日期：2023-02-10

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