Real‐world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower‐risk myelodysplastic syndromes
| Autor: | Arlene S. Swern, Michael R. Savona, Rami S. Komrokji, David L. Grinblatt, Dennis A. Revicki, Guillermo Garcia-Manero, Melissa Nifenecker, Jaroslaw P. Maciejewski, Pavel Kiselev, Mehrdad Abedi, Bart L. Scott, David P. Steensma, Elizabeth Dawn Flick, Chrystal U. Louis, Christopher R. Cogle, Michael A. Thompson, Jay Patel, Gail J. Roboz, Kathryn Foucar, Harry P. Erba, Mikkael A. Sekeres, Tracy I. George, Daniel A. Pollyea, Sandra E. Kurtin |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male Registry medicine.medical_specialty Erythroblasts diagnosis Iron Clinical Biochemistry Myelodysplastic syndromes Newly diagnosed Ring sideroblasts 030204 cardiovascular system & hematology Lower risk Young Adult 03 medical and health sciences 0302 clinical medicine Disease registry hemic and lymphatic diseases Internal medicine medicine Humans In patient ring sideroblasts Aged Aged 80 and over Hematopathology and Molecular Hematology business.industry SF3B1 Biochemistry (medical) Diagnostic test Original Articles Hematology General Medicine Middle Aged Phosphoproteins medicine.disease Mutation Cohort Female Original Article RNA Splicing Factors business 030215 immunology |
| Zdroj: | International Journal of Laboratory Hematology |
| ISSN: | 1751-553X 1751-5521 |
| DOI: | 10.1111/ijlh.13400 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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