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Integrated Genomic ...
Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts
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- Todisco, Gabriele (author)
- Karolinska Institutet,Universita degli studi di Pavia
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- Creignou, Maria (author)
- Karolinska universitetssjukhuset,Karolinska University Hospital,Karolinska Institutet
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- Bernard, Elsa (author)
- Memorial Sloan-Kettering Cancer Center
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- Björklund, Ann Charlotte (author)
- Karolinska Institutet
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- Moura, Pedro Luis (author)
- Karolinska Institutet
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- Tesi, Bianca (author)
- Karolinska Institutet,Karolinska universitetssjukhuset,Karolinska University Hospital
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- Mortera-Blanco, Teresa (author)
- Karolinska Institutet
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- Sander, Birgitta (author)
- Karolinska Institutet,Karolinska universitetssjukhuset,Karolinska University Hospital
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- Jansson, Monika (author)
- Karolinska universitetssjukhuset,Karolinska University Hospital,Karolinska Institutet
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- Walldin, Gunilla (author)
- Karolinska universitetssjukhuset,Karolinska University Hospital,Karolinska Institutet
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- Barbosa, Indira (author)
- Karolinska Institutet
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Reinsbach, Susanne Erika (author)
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- Hofman, Isabel Juliana (author)
- Karolinska Institutet
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- Nilsson, Christer (author)
- Karolinska universitetssjukhuset,Karolinska University Hospital,Karolinska Institutet
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- Yoshizato, Tetsuichi (author)
- Karolinska Institutet
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- Dimitriou, Marios (author)
- Karolinska Institutet
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- Chang, David (author)
- Karolinska Institutet
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- Olafsdottir, Svannildur (author)
- Karolinska Institutet
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- Larsson, Sigita Venckute (author)
- Karolinska Institutet
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- Tobiasson, Magnus (author)
- Karolinska universitetssjukhuset,Karolinska University Hospital,Karolinska Institutet
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- Malcovati, Luca (author)
- Universita degli studi di Pavia
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- Woll, Petter (author)
- Karolinska Institutet
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- Jacobsen, Sten Eirik W. (author)
- Karolinska Institutet
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- Papaemmanuil, Elli (author)
- Memorial Sloan-Kettering Cancer Center
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- Hellström-Lindberg, Eva (author)
- Karolinska Institutet,Karolinska universitetssjukhuset,Karolinska University Hospital
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(creator_code:org_t)
- 2023
- 2023
- English.
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In: Clinical Cancer Research. - 1078-0432 .- 1557-3265. ; 29:20, s. 4256-4267
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https://doi.org/10.1...
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Abstract
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- 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 (MDSRSþ) is limited to SF3B1-mutated cases without additional high-risk genetic events, but one third of MDSRSþ carry no SF3B1 mutation, suggesting that different molecular mechanisms may underlie RS formation. We integrated genomic and transcriptomic analyses to evaluate whether transcriptome profiles may improve current risk stratification. Experimental Design: We studied a prospective cohort of MDSRSþ patients irrespective of World Health Organization (WHO) class with regard to somatic mutations, copy-number alterations, and bone marrow CD34þ cell transcriptomes to assess whether transcriptome profiles add to prognostication and provide input on disease classification. Results: SF3B1, SRSF2, or TP53 multihit mutations were found in 89% of MDSRSþ cases, and each mutation category was associated with distinct clinical outcome, gene expression, and alternative splicing profiles. Unsupervised clustering analysis identified three clusters with distinct hemopoietic stem and progenitor (HSPC) composition, which only partially overlapped with mutation groups. IPSS-M and the transcriptome-defined proportion of megakaryocyte/erythroid progenitors (MEP) independently predicted survival in multivariable analysis. Conclusions: These results provide essential input on the molecular basis of SF3B1-unmutated MDSRSþ and propose HSPC quantification as a prognostic marker in myeloid neoplasms with RS.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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- By the author/editor
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Todisco, Gabriel ...
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Creignou, Maria
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Bernard, Elsa
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Björklund, Ann C ...
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Moura, Pedro Lui ...
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Tesi, Bianca
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Mortera-Blanco, ...
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Sander, Birgitta
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Jansson, Monika
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Walldin, Gunilla
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Barbosa, Indira
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Reinsbach, Susan ...
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Hofman, Isabel J ...
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Nilsson, Christe ...
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Yoshizato, Tetsu ...
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Dimitriou, Mario ...
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Chang, David
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Olafsdottir, Sva ...
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Larsson, Sigita ...
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Tobiasson, Magnu ...
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Malcovati, Luca
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Woll, Petter
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Jacobsen, Sten E ...
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Papaemmanuil, El ...
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Hellström-Lindbe ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
- Articles in the publication
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Clinical Cancer ...
- By the university
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Chalmers University of Technology
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Karolinska Institutet