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Aneuploidy in neoplasia : Single-cell data on 83,862 tumors

Mertens, Fredrik LU ; Hofvander, Jakob LU ; Mandahl, Nils LU and Mitelman, Felix LU orcid (2025) In International Journal of Cancer 156(1). p.34-39
Abstract

Chromosomal aneuploidy, that is, numerical chromosome aberrations, is one of the molecular hallmarks of cancer. However, when neoplasms are studied with sequencing- and array-based approaches, chromosome numbers and ploidy states are typically inferred from bulk DNA data. Furthermore, published molecular estimates of neoplasia-associated aneuploidy often also include genomic imbalances resulting from various types of structural rearrangement, which likely result from other mechanisms than numerical chromosome aberrations. We thus analyzed chromosome numbers using single-cell cytogenetic data from 83,862 tumors, and show that both benign and malignant tumors are highly heterogeneous with regard to deviations from the normal, diploid... (More)

Chromosomal aneuploidy, that is, numerical chromosome aberrations, is one of the molecular hallmarks of cancer. However, when neoplasms are studied with sequencing- and array-based approaches, chromosome numbers and ploidy states are typically inferred from bulk DNA data. Furthermore, published molecular estimates of neoplasia-associated aneuploidy often also include genomic imbalances resulting from various types of structural rearrangement, which likely result from other mechanisms than numerical chromosome aberrations. We thus analyzed chromosome numbers using single-cell cytogenetic data from 83,862 tumors, and show that both benign and malignant tumors are highly heterogeneous with regard to deviations from the normal, diploid state. Focusing on the chromosome numbers in 112 specific tumor types, defined by both exact morphologic diagnosis and organ location and from which data from ≥50 cases were available, we found two major clusters: one predominated by near-diploid neoplasms and one by neoplasms with extensive aneuploidy and one or more whole genome doublings. The former cluster included most benign solid tumors, myeloid neoplasms, and malignant gene fusion-associated solid tumors, whereas the latter was predominated by malignant solid tumors and lymphomas. For 16 malignant tumor types, the distribution of chromosome numbers could be compared to TCGA ploidy level data. Cytogenetic and molecular data correlated well, but the former indicates a higher level of clonal heterogeneity. The results presented here suggest shared pathogenetic mechanisms in certain tumor types and provide a reference for molecular analyses.

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author
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
aneuploidy, Cancer, chromosomes, single cells
in
International Journal of Cancer
volume
156
issue
1
pages
6 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:85202920290
  • pmid:39222304
ISSN
0020-7136
DOI
10.1002/ijc.35163
language
English
LU publication?
yes
id
7f263826-ee32-4e57-8d04-1be28a16d248
date added to LUP
2024-12-13 14:19:58
date last changed
2024-12-13 14:20:50
@article{7f263826-ee32-4e57-8d04-1be28a16d248,
  abstract     = {{<p>Chromosomal aneuploidy, that is, numerical chromosome aberrations, is one of the molecular hallmarks of cancer. However, when neoplasms are studied with sequencing- and array-based approaches, chromosome numbers and ploidy states are typically inferred from bulk DNA data. Furthermore, published molecular estimates of neoplasia-associated aneuploidy often also include genomic imbalances resulting from various types of structural rearrangement, which likely result from other mechanisms than numerical chromosome aberrations. We thus analyzed chromosome numbers using single-cell cytogenetic data from 83,862 tumors, and show that both benign and malignant tumors are highly heterogeneous with regard to deviations from the normal, diploid state. Focusing on the chromosome numbers in 112 specific tumor types, defined by both exact morphologic diagnosis and organ location and from which data from ≥50 cases were available, we found two major clusters: one predominated by near-diploid neoplasms and one by neoplasms with extensive aneuploidy and one or more whole genome doublings. The former cluster included most benign solid tumors, myeloid neoplasms, and malignant gene fusion-associated solid tumors, whereas the latter was predominated by malignant solid tumors and lymphomas. For 16 malignant tumor types, the distribution of chromosome numbers could be compared to TCGA ploidy level data. Cytogenetic and molecular data correlated well, but the former indicates a higher level of clonal heterogeneity. The results presented here suggest shared pathogenetic mechanisms in certain tumor types and provide a reference for molecular analyses.</p>}},
  author       = {{Mertens, Fredrik and Hofvander, Jakob and Mandahl, Nils and Mitelman, Felix}},
  issn         = {{0020-7136}},
  keywords     = {{aneuploidy; Cancer; chromosomes; single cells}},
  language     = {{eng}},
  number       = {{1}},
  pages        = {{34--39}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{International Journal of Cancer}},
  title        = {{Aneuploidy in neoplasia : Single-cell data on 83,862 tumors}},
  url          = {{http://dx.doi.org/10.1002/ijc.35163}},
  doi          = {{10.1002/ijc.35163}},
  volume       = {{156}},
  year         = {{2025}},
}