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Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations
OBJECTIVES: SF3B1 mutations are the most common mutations in myelodysplastic syndromes (MDS). The International Working Group for the Prognosis of MDS (IWG-PM) recently proposed SF3B1-mutant MDS (SF3B1(-mut)-MDS) as a distinct disease subtype. We evaluated the spectrum and molecular landscape of SF3...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427737/ https://www.ncbi.nlm.nih.gov/pubmed/33978189 http://dx.doi.org/10.1093/ajcp/aqab010 |
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author | Venable, Elise R Chen, Dong Chen, Constance P Bessonen, Kurt R Nguyen, Phuong L Oliveira, Jennifer L Reichard, Kaaren K Hoyer, James D Althoff, Simon D Roh, Dana J Miller, Mechelle A Begna, Kebede Patnaik, Mrinal M Litzow, Mark R Al-Kali, Aref Viswanatha, David S He, Rong |
author_facet | Venable, Elise R Chen, Dong Chen, Constance P Bessonen, Kurt R Nguyen, Phuong L Oliveira, Jennifer L Reichard, Kaaren K Hoyer, James D Althoff, Simon D Roh, Dana J Miller, Mechelle A Begna, Kebede Patnaik, Mrinal M Litzow, Mark R Al-Kali, Aref Viswanatha, David S He, Rong |
author_sort | Venable, Elise R |
collection | PubMed |
description | OBJECTIVES: SF3B1 mutations are the most common mutations in myelodysplastic syndromes (MDS). The International Working Group for the Prognosis of MDS (IWG-PM) recently proposed SF3B1-mutant MDS (SF3B1(-mut)-MDS) as a distinct disease subtype. We evaluated the spectrum and molecular landscape of SF3B1-mutated myeloid disorders and assessed the prognostication in MDS harboring SF3B1 mutations (MDS-SF3B1). METHODS: Cases were selected by retrospective review. Clinical course and laboratory and clinical findings were collected by chart review. SF3B1(-mut)-MDS was classified following IWG-PM criteria. RESULTS: SF3B1 mutations were identified in 75 of 955 patients, encompassing a full spectrum of myeloid disorders. In MDS-SF3B1, Revised International Prognostic Scoring System (IPSS-R) score greater than 3 and transcription factor (TF) comutations were adverse prognostic markers by both univariate and multivariate analyses. We confirmed the favorable outcome of IWG-PM-defined SF3B1(-mut)-MDS. Interestingly, it did not show sharp prognostic differentiation within MDS-SF3B1. CONCLUSIONS: SF3B1 mutations occur in the full spectrum of myeloid disorders. We independently validated the favorable prognostication of IWG-PM-defined SF3B1(-mut)-MDS. However it may not provide sharp prognostication within MDS-SF3B1 where IPSS-R and TF comutations were prognostic-informative. Larger cohort studies are warranted to verify these findings and refine MDS-SF3B1 prognostication. |
format | Online Article Text |
id | pubmed-8427737 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-84277372021-09-10 Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations Venable, Elise R Chen, Dong Chen, Constance P Bessonen, Kurt R Nguyen, Phuong L Oliveira, Jennifer L Reichard, Kaaren K Hoyer, James D Althoff, Simon D Roh, Dana J Miller, Mechelle A Begna, Kebede Patnaik, Mrinal M Litzow, Mark R Al-Kali, Aref Viswanatha, David S He, Rong Am J Clin Pathol Original Articles OBJECTIVES: SF3B1 mutations are the most common mutations in myelodysplastic syndromes (MDS). The International Working Group for the Prognosis of MDS (IWG-PM) recently proposed SF3B1-mutant MDS (SF3B1(-mut)-MDS) as a distinct disease subtype. We evaluated the spectrum and molecular landscape of SF3B1-mutated myeloid disorders and assessed the prognostication in MDS harboring SF3B1 mutations (MDS-SF3B1). METHODS: Cases were selected by retrospective review. Clinical course and laboratory and clinical findings were collected by chart review. SF3B1(-mut)-MDS was classified following IWG-PM criteria. RESULTS: SF3B1 mutations were identified in 75 of 955 patients, encompassing a full spectrum of myeloid disorders. In MDS-SF3B1, Revised International Prognostic Scoring System (IPSS-R) score greater than 3 and transcription factor (TF) comutations were adverse prognostic markers by both univariate and multivariate analyses. We confirmed the favorable outcome of IWG-PM-defined SF3B1(-mut)-MDS. Interestingly, it did not show sharp prognostic differentiation within MDS-SF3B1. CONCLUSIONS: SF3B1 mutations occur in the full spectrum of myeloid disorders. We independently validated the favorable prognostication of IWG-PM-defined SF3B1(-mut)-MDS. However it may not provide sharp prognostication within MDS-SF3B1 where IPSS-R and TF comutations were prognostic-informative. Larger cohort studies are warranted to verify these findings and refine MDS-SF3B1 prognostication. Oxford University Press 2021-05-12 /pmc/articles/PMC8427737/ /pubmed/33978189 http://dx.doi.org/10.1093/ajcp/aqab010 Text en © American Society for Clinical Pathology, 2021. https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Original Articles Venable, Elise R Chen, Dong Chen, Constance P Bessonen, Kurt R Nguyen, Phuong L Oliveira, Jennifer L Reichard, Kaaren K Hoyer, James D Althoff, Simon D Roh, Dana J Miller, Mechelle A Begna, Kebede Patnaik, Mrinal M Litzow, Mark R Al-Kali, Aref Viswanatha, David S He, Rong Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title | Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title_full | Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title_fullStr | Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title_full_unstemmed | Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title_short | Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations |
title_sort | pathologic spectrum and molecular landscape of myeloid disorders harboring sf3b1 mutations |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8427737/ https://www.ncbi.nlm.nih.gov/pubmed/33978189 http://dx.doi.org/10.1093/ajcp/aqab010 |
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