Article
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Leukemia - 1 Aug 2018
Kirschner Martin, Maurer Angela, Wlodarski Marcin W, Ventura Ferreira Monica S, Bouillon Anne-Sophie, Halfmeyer Insa, Blau Wolfgang, Kreuter Michael, Rosewich Martin, Corbacioglu Selim, Beck Joachim, Schwarz Michaela, Bittenbring Jörg, Radsak Markus P, Wilk Christian Matthias, Koschmieder Steffen, Begemann Matthias, Kurth Ingo, Schemionek Mirle, Brümmendorf Tim H, Beier Fabian
Abstract excerpt
Dyskeratosis congenita (DKC) is a paradigmatic telomere disorder characterized by substantial and premature telomere shortening, bone marrow failure, and a dramatically increased risk of developing myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). DKC can occur as a late-onset, so-called cryptic form, with first manifestation in adults. Somatic MDS-related mutations are found in up to 35% of...
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