Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.

doi:10.1158/1078-0432.CCR-23-0538

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Article

Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.

Clinical cancer research : an official journal of the American Association for Cancer Research - 13 Oct 2023

Todisco Gabriele, Creignou Maria, Bernard Elsa, Björklund Ann-Charlotte, Moura Pedro Luis, Tesi Bianca, Mortera-Blanco Teresa, Sander Birgitta, Jansson Monika, Walldin Gunilla, Barbosa Indira, Reinsbach Susanne E, Hofman Isabel Juliana, Nilsson Christer, Yoshizato Tetsuichi, Dimitriou Marios, Chang David, Olafsdottir Svannildur, Venckute Larsson Sigita, Tobiasson Magnus, Malcovati Luca, Woll Petter, Jacobsen Sten Eirik W, Papaemmanuil Elli, Hellström-Lindberg Eva

Abstract excerpt

PURPOSE: Ring sideroblasts (RS) define the low-risk myelodysplastic neoplasm (MDS) subgroup with RS but may also reflect erythroid dysplasia in higher risk myeloid neoplasm. The benign behavior of MDS with RS (MDSRS+) is limited to SF3B1-mutated cases without additional high-risk genetic events, but one third of MDSRS+ carry no SF3B1 mutation, suggesting that different molecular mechanisms may underlie RS...

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PMID: 37498312
DOI: 10.1158/1078-0432.CCR-23-0538
PMCID: PMC10570683

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