Stanford University Genetic Counseling Program, Stanford, California, USA.
Stanford Children's Health, Stanford, California, USA.
Am J Med Genet A. 2022 Sep;188(9):2584-2589. doi: 10.1002/ajmg.a.62890. Epub 2022 Jul 2.
Neurofibromatosis type 1 (NF1) has historically been diagnosed clinically based on the NIH Consensus Conference diagnostic criteria. The molecular and clinical knowledge of NF1 has subsequently improved, and an international group of experts published revised diagnostic criteria in 2021, incorporating new diagnostic criteria such as pathogenic variants in NF1. This study aimed to investigate the impact of these new diagnostic criteria on time to diagnosis (TTD) of NF1. A retrospective chart review of individuals evaluated for a diagnosis of NF1 at the Medical Genetics Clinic at Stanford Children's Health was performed. The TTD was determined by calculating the days between their first visit with a medical geneticist for NF1 and the date they would have received a diagnosis based on the previous NF1 diagnostic criteria and the 2021 updated diagnostic criteria. The revised diagnostic criteria for NF1 decreased TTD. The mean difference in TTD was 113 days shorter for the new criteria (p-value = 1.306x ). This study highlights that the revised 2021 NF1 diagnostic criteria can decrease the TTD. The addition of a heterozygous pathogenic variant in NF1 as a criterion was the change that decreased TTD.
神经纤维瘤病 1 型（NF1）历史上是基于 NIH 共识会议诊断标准进行临床诊断的。NF1 的分子和临床知识随后得到了改进，一组国际专家于 2021 年发布了修订后的诊断标准，纳入了 NF1 中的致病性变异等新的诊断标准。本研究旨在探讨这些新的诊断标准对 NF1 诊断时间（TTD）的影响。对斯坦福儿童健康医学遗传学诊所评估 NF1 诊断的个体进行了回顾性图表审查。通过计算他们首次就诊于医学遗传学家进行 NF1 检查与根据之前的 NF1 诊断标准和 2021 年更新的诊断标准本应接受诊断的日期之间的天数来确定 TTD。NF1 的修订诊断标准缩短了 TTD。新的诊断标准的 TTD 平均差异缩短了 113 天（p 值=1.306x）。本研究强调，修订后的 2021 年 NF1 诊断标准可以缩短 TTD。将 NF1 中的杂合致病性变异作为标准是缩短 TTD 的原因。
