Neurofibromatosis type 1 (NF1) is an autosomal dominant syndrome whose characteristic manifestations include benign neurofibromas, yet NF1 is also associated with a high risk of cancer. Measurements of circulating free plasma DNA (cfDNA) are gaining wider applicability in cancer diagnostics, targeting of therapy, and monitoring of therapeutic response. Individuals with NF1 are likely to be followed up using this method, but the effects of NF1 and neurofibromas on cfDNA levels are not known. We studied peripheral blood samples from 19 adults with NF1 and 12 healthy controls. The cfDNA was isolated from plasma with QIAamp Circulating Nucleic Acid Kit and quantified using the Qubit 2.0 Fluorometer. The cfDNA concentration of each sample was normalized relative to the plasma protein concentration. The normalized median concentration of cfDNA in plasma was 19.3 ng/ml (range 6.6–78.6) among individuals with NF1 and 15.9 ng/ml (range 4.8–47.0) among controls (p = .369). Individuals with NF1 who also had plexiform neurofibroma (pNF) showed non‐significantly elevated cfDNA concentration compared to individuals with NF1 and without known pNF (median 25.4 vs. 18.8 ng/ml, p = .122). The effect of NF1 on cfDNA seems to be relatively small and NF1 is therefore unlikely to hamper the use of cfDNA‐based assays.

中文翻译：

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1 型神经纤维瘤病患者血浆中的循环游离 DNA

1 型神经纤维瘤病 (NF1) 是一种常染色体显性遗传综合征，其特征性表现包括良性神经纤维瘤，但 NF1 也与癌症的高风险有关。循环游离血浆 DNA (cfDNA) 的测量在癌症诊断、治疗靶向和治疗反应监测中获得更广泛的适用性。NF1 患者可能会使用这种方法进行随访，但 NF1 和神经纤维瘤对 cfDNA 水平的影响尚不清楚。我们研究了 19 名 NF1 成人和 12 名健康对照的外周血样本。使用 QIAamp 循环核酸试剂盒从血浆中分离 cfDNA，并使用 Qubit 2.0 荧光计进行定量。每个样品的 cfDNA 浓度相对于血浆蛋白浓度进行了标准化。p = .369）。与患有 NF1 且没有已知 pNF 的个体相比，同时患有丛状神经纤维瘤 (pNF) 的 NF1 个体的 cfDNA 浓度没有显着升高（中值 25.4 与 18.8 ng/ml，p = .122）。NF1 对 cfDNA 的影响似乎相对较小，因此 NF1 不太可能妨碍基于 cfDNA 的检测的使用。