Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use

被引：33

作者：

Bettegowda, Chetan ^{[1
]}

Upadhayaya, Meena ^{[2
]}

Evans, Gareth ^{[3
]}

Kim, AeRang ^{[4
]}

Mathios, Dimitrios ^{[1
]}

Hanemann, Clemens O. ^{[5
]}

机构：

[1] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[2] Cardiff Univ, Div Canc & Genet, Cardiff, Wales

[3] Univ Manchester, Genom Med, Manchester, Lancs, England

[4] Childrens Natl Hosp, Ctr Canc & Blood Disorders, Washington, DC USA

[5] Univ Plymouth, Inst Translat & Stratified Med, Fac Hlth Med Dent & Hlth Sci, Plymouth, Devon, England

来源：

NEUROLOGY | 2021年 / 97卷 / 07期

关键词：

NERVE SHEATH TUMORS; SPINAL NEUROFIBROMATOSIS; TYPE-1; NF1; MUTATIONS; GENE; SEVERITY; FEATURES; MICRODELETIONS; PREDICTORS; MORTALITY;

D O I：

10.1212/WNL.0000000000012436

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Objective 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. Methods 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. Results 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 NF1 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. Conclusion We summarized emerging clinical use of genotype-phenotype correlations in neurofibromatosis.

引用

页码：S91 / S98

页数：8

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