Article (Scientific journals)
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Kirschner, Martin; Maurer, Angela; Wlodarski, Marcin W. et al.
2018In Leukemia, 32 (8), p. 1762-1767
Peer Reviewed verified by ORBi
 

Files


Full Text
Kirschner-Recurrent somatic mutatinos and cryptic dyskeratosis congenita-Leukemia-2018.pdf
Publisher postprint (691.94 kB)
Download

All documents in ORBi are protected by a user license.

Send to



Details



Keywords :
Adult; Biomarkers, Tumor/genetics; Dyskeratosis Congenita/complications/genetics; Female; Follow-Up Studies; Germany/epidemiology; Humans; Incidence; Leukemia, Myeloid, Acute/epidemiology/genetics; Male; Middle Aged; Mutation; Myelodysplastic Syndromes/epidemiology/genetics; Prognosis; Telomere Shortening/genetics; Young Adult
Abstract :
[en] 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 patients with acquired aplastic anemia (AA), especially in patients with short telomeres. The aim of our study was to investigate whether cryptic DKC is associated with an increased incidence of MDS-related somatic mutations, thereby linking the accelerated telomere shortening with the increased risk of MDS/AML. Samples from 15 adult patients (median age: 42 years, range: 23-60 years) with molecularly confirmed cryptic DKC were screened using next-generation gene panel sequencing to detect MDS-related somatic variants. Only one of the 15 patients (7%) demonstrated a clinically relevant MDS-related somatic variant. This incidence was dramatically lower than formerly described in acquired AA. Based on our data, we conclude that clonal evolution of subclones carrying MDS-related mutations is not the predominant mechanism for MDS/AML initiation in adult cryptic DKC patients.
Disciplines :
Hematology
Author, co-author :
Kirschner, Martin
Maurer, Angela
Wlodarski, Marcin W.
Ventura Ferreira, Monica S.
Bouillon, Anne-Sophie ;  Centre Hospitalier Universitaire de Liège - CHU > Département de médecine interne > Service d'hématologie clinique
Halfmeyer, Insa
Blau, Wolfgang
Kreuter, Michael
Rosewich, Martin
Corbacioglu, Selim
Beck, Joachim
Schwarz, Michaela
Bittenbring, Jorg
Radsak, Markus P.
Wilk, Christian Matthias
Koschmieder, Steffen
Begemann, Matthias
Kurth, Ingo
Schemionek, Mirle
Brummendorf, Tim H.
Beier, Fabian
More authors (11 more) Less
Language :
English
Title :
Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.
Publication date :
2018
Journal title :
Leukemia
ISSN :
0887-6924
eISSN :
1476-5551
Publisher :
Nature Publishing Group, United Kingdom
Volume :
32
Issue :
8
Pages :
1762-1767
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 22 April 2020

Statistics


Number of views
110 (3 by ULiège)
Number of downloads
243 (2 by ULiège)

Scopus citations®
 
26
Scopus citations®
without self-citations
11
OpenCitations
 
26

Bibliography


Similar publications



Contact ORBi