A1 Refereed original research article in a scientific journal
Circulating free DNA in the plasma of individuals with neurofibromatosis type 1
Authors: Kallionpää Roope A, Ahramo Kaisa, Aaltonen Marianna, Pennanen Paula, Peltonen Juha, Peltonen Sirkku
Publisher: Wiley
Publication year: 2021
Journal: American Journal of Medical Genetics Part A
Journal acronym: AJMG Part A
Volume: 185
Issue: 4
First page : 1098
Last page: 1104
Number of pages: 7
ISSN: 1552-4825
DOI: https://doi.org/10.1002/ajmg.a.62081
Web address : https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62081
Self-archived copy’s web address: https://research.utu.fi/converis/portal/Publication/50851357
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.
Downloadable publication This is an electronic reprint of the original article. |