Who Am I? Eyebrow Follicles Minimize Donor-Derived DNA for Germline Testing After Hematopoietic Stem Cell Transplantation

    Matthias Mertens, Matthias Mertens, Mona Sadlo, Jörn-Sven Kühl, Klaus H. Metzeler, Louisa Zschenderlein, Jeanett Edelmann, Claudia Lehmann, Sarah Thull, M Karakaya, Clara Velmans, Theresa Tumewu, Matthias Böhme, Christina Klötzer, Anne Weigert, Vladan Vucinic, Julia Hentschel, Mareike Mertens, Mareike Mertens
    Studysummary This study found that eyebrow follicles, as opposed to buccal swabs or nails, are the most reliable tissue for post-HSCT germline genetic testing due to lower donor DNA contamination.
    Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
    The study evaluates the presence of donor-derived DNA in various tissues after hematopoietic stem cell transplantation (HSCT) to improve germline genetic testing, involving 45-46 participants. Eyebrow follicles consistently show the lowest donor DNA contamination (median 1% by NGS; 3% by STR), making them the preferred tissue for testing. Nails are a viable alternative, while buccal swabs exhibit higher donor DNA levels and should be avoided unless confirmed by SNP-based quality control. The study suggests using eyebrow follicles for post-HSCT germline testing, with a proposed SNP-based quality control assay to ensure minimal donor DNA interference, enhancing genetic analysis accuracy. Factors like donor-recipient sex match and HLA match influence chimerism levels.
    Discuss this study in the Community →