Cargando…
Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes
INTRODUCTION: The presence of ring sideroblasts (RS) and mutation of the SF3B1 gene are diagnostic of lower‐risk (LR) myelodysplastic syndromes (MDS) and are correlated with favorable outcomes. However, information on testing and reporting in community‐based clinical settings is scarce. This study f...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247031/ https://www.ncbi.nlm.nih.gov/pubmed/33220019 http://dx.doi.org/10.1111/ijlh.13400 |
_version_ | 1783716438416031744 |
---|---|
author | Patel, Jay L. Abedi, Mehrdad Cogle, Christopher R. Erba, Harry P. Foucar, Kathryn Garcia‐Manero, Guillermo Grinblatt, David L. Komrokji, Rami S. Kurtin, Sandra E. Maciejewski, Jaroslaw P. Pollyea, Daniel A. Revicki, Dennis A. Roboz, Gail J. Savona, Michael R. Scott, Bart L. Sekeres, Mikkael A. Steensma, David P. Thompson, Michael A. Dawn Flick, Elizabeth Kiselev, Pavel Louis, Chrystal U. Nifenecker, Melissa Swern, Arlene S. George, Tracy I. |
author_facet | Patel, Jay L. Abedi, Mehrdad Cogle, Christopher R. Erba, Harry P. Foucar, Kathryn Garcia‐Manero, Guillermo Grinblatt, David L. Komrokji, Rami S. Kurtin, Sandra E. Maciejewski, Jaroslaw P. Pollyea, Daniel A. Revicki, Dennis A. Roboz, Gail J. Savona, Michael R. Scott, Bart L. Sekeres, Mikkael A. Steensma, David P. Thompson, Michael A. Dawn Flick, Elizabeth Kiselev, Pavel Louis, Chrystal U. Nifenecker, Melissa Swern, Arlene S. George, Tracy I. |
author_sort | Patel, Jay L. |
collection | PubMed |
description | INTRODUCTION: The presence of ring sideroblasts (RS) and mutation of the SF3B1 gene are diagnostic of lower‐risk (LR) myelodysplastic syndromes (MDS) and are correlated with favorable outcomes. However, information on testing and reporting in community‐based clinical settings is scarce. This study from the Connect(®) MDS/AML Disease Registry aimed to compare the frequency of RS and SF3B1 reporting for patients with LR‐MDS, before and after publication of the 2016 World Health Organization (WHO) MDS classification criteria. METHODS: Ring sideroblasts assessment and molecular testing data were collected from patients with LR‐MDS at enrollment in the Registry. Patients enrolled between December 2013 and the data cutoff of March 2020 were included in this analysis. RESULTS: Among 489 patients with LR‐MDS, 434 (88.8%) underwent RS assessment; 190 were assessed prior to the 2016 WHO guidelines (Cohort A), and 244 after (Cohort B). In Cohort A, 87 (45.8%) patients had RS identified; 29 (33.3%) patients had RS < 15%, none of whom underwent molecular testing for SF3B1. In Cohort B, 96 (39.3%) patients had RS identified; 31 (32.3%) patients had < 15% RS, with 13 undergoing molecular testing of which 10 were assessed for SF3B1. CONCLUSIONS: In the Connect(®) MDS/AML Registry, only 32% of patients with <15% RS underwent SF3B1 testing after the publication of the WHO 2016 classification criteria. There was no change in RS assessment frequency before and after publication, despite the potential impact on diagnostic subtyping and therapy selection, suggesting an unmet need for education to increase testing rates for SF3B1 mutations. |
format | Online Article Text |
id | pubmed-8247031 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-82470312021-07-02 Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes Patel, Jay L. Abedi, Mehrdad Cogle, Christopher R. Erba, Harry P. Foucar, Kathryn Garcia‐Manero, Guillermo Grinblatt, David L. Komrokji, Rami S. Kurtin, Sandra E. Maciejewski, Jaroslaw P. Pollyea, Daniel A. Revicki, Dennis A. Roboz, Gail J. Savona, Michael R. Scott, Bart L. Sekeres, Mikkael A. Steensma, David P. Thompson, Michael A. Dawn Flick, Elizabeth Kiselev, Pavel Louis, Chrystal U. Nifenecker, Melissa Swern, Arlene S. George, Tracy I. Int J Lab Hematol Original Articles INTRODUCTION: The presence of ring sideroblasts (RS) and mutation of the SF3B1 gene are diagnostic of lower‐risk (LR) myelodysplastic syndromes (MDS) and are correlated with favorable outcomes. However, information on testing and reporting in community‐based clinical settings is scarce. This study from the Connect(®) MDS/AML Disease Registry aimed to compare the frequency of RS and SF3B1 reporting for patients with LR‐MDS, before and after publication of the 2016 World Health Organization (WHO) MDS classification criteria. METHODS: Ring sideroblasts assessment and molecular testing data were collected from patients with LR‐MDS at enrollment in the Registry. Patients enrolled between December 2013 and the data cutoff of March 2020 were included in this analysis. RESULTS: Among 489 patients with LR‐MDS, 434 (88.8%) underwent RS assessment; 190 were assessed prior to the 2016 WHO guidelines (Cohort A), and 244 after (Cohort B). In Cohort A, 87 (45.8%) patients had RS identified; 29 (33.3%) patients had RS < 15%, none of whom underwent molecular testing for SF3B1. In Cohort B, 96 (39.3%) patients had RS identified; 31 (32.3%) patients had < 15% RS, with 13 undergoing molecular testing of which 10 were assessed for SF3B1. CONCLUSIONS: In the Connect(®) MDS/AML Registry, only 32% of patients with <15% RS underwent SF3B1 testing after the publication of the WHO 2016 classification criteria. There was no change in RS assessment frequency before and after publication, despite the potential impact on diagnostic subtyping and therapy selection, suggesting an unmet need for education to increase testing rates for SF3B1 mutations. John Wiley and Sons Inc. 2020-11-21 2021-06 /pmc/articles/PMC8247031/ /pubmed/33220019 http://dx.doi.org/10.1111/ijlh.13400 Text en © 2020 The Authors. International Journal of Laboratory Hematology published by John Wiley & Sons Ltd https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
spellingShingle | Original Articles Patel, Jay L. Abedi, Mehrdad Cogle, Christopher R. Erba, Harry P. Foucar, Kathryn Garcia‐Manero, Guillermo Grinblatt, David L. Komrokji, Rami S. Kurtin, Sandra E. Maciejewski, Jaroslaw P. Pollyea, Daniel A. Revicki, Dennis A. Roboz, Gail J. Savona, Michael R. Scott, Bart L. Sekeres, Mikkael A. Steensma, David P. Thompson, Michael A. Dawn Flick, Elizabeth Kiselev, Pavel Louis, Chrystal U. Nifenecker, Melissa Swern, Arlene S. George, Tracy I. Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title | Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title_full | Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title_fullStr | Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title_full_unstemmed | Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title_short | Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
title_sort | real‐world diagnostic testing patterns for assessment of ring sideroblasts and sf3b1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8247031/ https://www.ncbi.nlm.nih.gov/pubmed/33220019 http://dx.doi.org/10.1111/ijlh.13400 |
work_keys_str_mv | AT pateljayl realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT abedimehrdad realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT coglechristopherr realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT erbaharryp realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT foucarkathryn realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT garciamaneroguillermo realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT grinblattdavidl realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT komrokjiramis realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT kurtinsandrae realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT maciejewskijaroslawp realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT pollyeadaniela realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT revickidennisa realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT robozgailj realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT savonamichaelr realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT scottbartl realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT sekeresmikkaela realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT steensmadavidp realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT thompsonmichaela realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT dawnflickelizabeth realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT kiselevpavel realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT louischrystalu realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT nifeneckermelissa realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT swernarlenes realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes AT georgetracyi realworlddiagnostictestingpatternsforassessmentofringsideroblastsandsf3b1mutationsinpatientswithnewlydiagnosedlowerriskmyelodysplasticsyndromes |