AI Article Synopsis
- Genetic testing for NF2-related schwannomatosis is complex due to high rates of mosaicism, which cause milder and more asymmetrical symptoms.
- An updated protocol offers guidance for individuals at risk, including estimated chances of having an affected child, based on findings from over 1000 genetic tests.
- The new guidelines enable earlier screening and reassurance by indicating lower transmission risks, allowing many at risk to be discharged once their probability of developing the condition drops below 1%.
Article Abstract
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.
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| http://dx.doi.org/10.1111/cge.14310 | DOI Listing |
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