Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_C61747071E47
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Refined cytogenetic IPSS-R evaluation by the use of SNP array in a cohort of 290 MDS patients.
Journal
Genes, chromosomes & cancer
Author(s)
Scarpelli I., Stalder V.B., Tsilimidos G., Rapakko K., Costanza M., Blum S., Schoumans J.
ISSN
1098-2264 (Electronic)
ISSN-L
1045-2257
Publication state
Published
Issued date
12/2023
Peer-reviewed
Oui
Volume
62
Number
12
Pages
721-731
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
Abstract
Genetic testing plays a central role in myelodysplastic neoplasms (MDS) diagnosis, prognosis, and therapeutic decisions. The widely applied cytogenetic revised international prognostic scoring system (IPSS-R) was based on chromosome banding analysis (CBA). However, subsequently developed genetic methodologies, such as single nucleotide polymorphism (SNP) array, demonstrated to be a valid alternative test for MDS. SNP array is, in fact, able to detect the majority of MDS-associated cytogenetic aberrations, by providing further genomic information due to its higher resolution. In this study, 290 samples from individuals with a confirmed or suspected diagnosis of MDS were tested by both CBA and SNP array, in order to evaluate and compare their cytogenetic IPSS-R score in the largest MDS cohort reported so far. A concordant or better refined cytogenetic IPSS-R array-based score was obtained for 95% of cases (277). Therefore, this study confirms the effective applicability of SNP array toward the cytogenetic IPSS-R evaluation and consequently, toward the molecular international prognostic scoring system for MDS (IPSS-M) assessment, which ensures an improved MDS risk stratification refinement. Considering the advent of additional genetic technologies interrogating the whole genome with increased resolutions, counting cytogenetic abnormalities based on their size may result in a simplistic approach. On the contrary, assessing overall genomic complexity may provide additional crucial information. Independently of the technology used, genetic results should indeed aim at ensuring a highly refined stratification for MDS patients.
Keywords
Humans, Chromosome Aberrations, Myelodysplastic Syndromes/diagnosis, Myelodysplastic Syndromes/genetics, Myelodysplastic Syndromes/therapy, Chromosome Banding, MDS cohort, MDS patient stratification, SNP array, cytogenetic IPSS-R comparison, genetic testing in MDS, genomic complexity, refined score
Pubmed
Web of science
Open Access
Yes
Create date
21/07/2023 12:03
Last modification date
03/02/2024 8:25
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