A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä

Circulating free DNA in the plasma of individuals with neurofibromatosis type 1




TekijätKallionpää Roope A, Ahramo Kaisa, Aaltonen Marianna, Pennanen Paula, Peltonen Juha, Peltonen Sirkku

KustantajaWiley

Julkaisuvuosi2021

JournalAmerican Journal of Medical Genetics Part A

Lehden akronyymiAJMG Part A

Vuosikerta185

Numero4

Aloitussivu1098

Lopetussivu1104

Sivujen määrä7

ISSN1552-4825

DOIhttps://doi.org/10.1002/ajmg.a.62081(external)

Verkko-osoitehttps://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62081(external)

Rinnakkaistallenteen osoitehttps://research.utu.fi/converis/portal/Publication/50851357(external)


Tiivistelmä

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.


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