From Johns Hopkins University School of Medicine (C.B., D.M.), Baltimore, MD; Division Cancer and Genetics (M.U.), Cardiff University; Genomic Medicine (D.G.E.), University of Manchester, UK; Center for Cancer and Blood Disorders (A.K.), Children's National Hospital, Washington, DC; and Faculty of Health, Medicine, Dentistry and Health Sciences (C.O.H.), Institute of Translational and Stratified Medicine, University of Plymouth, UK.
Neurology. 2021 Aug 17;97(7 Suppl 1):S91-S98. doi: 10.1212/WNL.0000000000012436. Epub 2021 Jul 6.
Because clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether genotype-phenotype correlations are useful in clinical trials in NF1 and NF2.
The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) Biomarker Group first performed a systematic literature search and reviewed existing data on genetic biomarkers in NF1 and NF2 and in in malignant peripheral nerve sheath tumors. The group then met during a series of consensus meetings to develop a joint report.
We found that in NF2, the genetic severity score is clearly of potential clinical use. In NF1, despite over 3,000 constitutional variants having been described in the gene, only 4 actionable genotype-phenotype correlations exist. The diagnosis and treatment decision of these tumors should ideally include histopathology and compilation of some of the genetic markers.
We summarized emerging clinical use of genotype-phenotype correlations in neurofibromatosis.
由于尚未确定神经纤维瘤病 1 型（NF1）和神经纤维瘤病 2 型（NF2）的临床验证生物标志物，我们旨在确定基因型-表型相关性是否可用于 NF1 和 NF2 的临床试验。
神经纤维瘤病和雪旺细胞瘤反应评估（REiNS）生物标志物小组首先进行了系统的文献检索，并回顾了 NF1 和 NF2 以及恶性外周神经鞘瘤中遗传生物标志物的现有数据。然后，该小组在一系列共识会议期间开会，共同撰写报告。
我们发现，在 NF2 中，遗传严重程度评分显然具有潜在的临床应用价值。在 NF1 中，尽管在基因中已描述了超过 3000 种结构变异，但仅存在 4 种可操作的基因型-表型相关性。这些肿瘤的诊断和治疗决策理想情况下应包括组织病理学和某些遗传标志物的组合。
我们总结了基因型-表型相关性在神经纤维瘤病中的新兴临床应用。
