Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts.

Authors

Cecilie Velsoe Maeng, Pei Meng, Mathias Heldbo, Olafur Davidsson, Morten Munk Johansen, Sigrún Thorsteinsdóttir, Jojo Biel-Nielsen Dietz, Ragnar Pétur Kristjansson, Ole Birger Vesterager Pedersen, Erik Sørensen, Christian Erikstrup, Christina Mikkelsen, Nanna Brøns, Henrik Ullum, Bitten Aagaard, Mie Topholm Bruun, Estrid Høgdall, DBDS Research Consortium, CHB Research Consortium, Bo Porse, Simon Husby, Sisse R Ostrowski, Henrik Hjalgrim, Kirsten Grønbæk

Published in

British journal of haematology. Jul 19, 2026. Epub Jul 19, 2026.

Abstract

Mosaic chromosomal alterations (mCAs) are large somatic gains, losses and copy-neutral loss of heterozygosity identified in the peripheral blood, which represent a relatively unexplored spectrum of clonal haematopoiesis. We aimed to describe mCAs in two large Danish cohorts with extensive long-term registry-based follow-up and examine associations with haematological malignancy. We analysed genotype data from 97 752 participants from the Danish Blood Donor Study and 86 301 patients from the Copenhagen Hospital Biobank using the MoChA software. Association to haematological cancers was modelled with competing-risk methods and Cox regression, or logistic regression, via nationwide register linkage. Among 184 053 individuals, 15 459 (8%) carried autosomal mCAs and 14 322 females (17%) had loss of X, with prevalence increasing with age. In samples before or after diagnosis of haematological cancer, autosomal mCAs were detectable in 21%-62% of individuals depending on cancer subtype. Overall, the risk of haematological cancer was increased for individuals carrying autosomal mCA (hazard ratio [HR] 4.1 (95% confidence interval [CI] 3.1-5.5)), but not for individuals carrying loss of X chromosome (HR 1.1 [95% CI 0.7-1.6]). The level of malignancy risk was highly variable between different chromosomal aberrations, and cancer gene-related mCAs conveyed highest risk. Autosomal mCAs, especially those overlapping cancer gene loci, identify individuals at increased risk of haematological malignancy and may assist improvement of risk stratification and early detection.

PMID:
42472648
Bibliographic data and abstract were imported from PubMed on 20 Jul 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.