Real-world Diagnostic Testing Patterns for Assessment of Ring Sideroblasts and SF3B1 Mutations in Patients with Newly Diagnosed Lower-risk Myelodysplastic Syndromes

Authors

Jay L. Patel, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA
Mehrdad Abedi, University of California, Davis, Sacramento, CA, USA
Christopher R. Cogle, University of Florida, Gainesville, FL, USA
Harry P. Erba, Duke University, Durham, NC, USA
Kathryn Foucar, University of New Mexico School of Medicine, Albuquerque, NM, USA
Guillermo Garcia-Manero, University of Texas MD Anderson Cancer Center, Houston, TX, USA
David L. Grinblatt, NorthShore University HealthSystem, Evanston, IL, USA
Rami S. Komrokji, H. Lee Moffitt Cancer Center, Tampa, FL, USA
Sandra E. Kurtin, University of Arizona Cancer Center, Tucson, AZ, USA
Jaroslaw P. Maciejewski, Cleveland Clinic Foundation, Cleveland, OH, USA
Daniel A. Pollyea, University of Colorado, Aurora, CO, USA
Dennis A. Revicki, Outcomes Research Consulting, Sarasota, FL, USA
Gail J. Roboz, Weill Cornell Medicine and The New York Presbyterian Hospital, New York, NY, USA
Michael R. Savona, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, TN, USA
Bart L. Scott, Fred Hutchinson Cancer Research Center, Seattle, WA, USA
Mikkael A. Sekeres, Leukemia Program, Cleveland Clinic, Cleveland, OH, USA
David P. Steensma, Dana-Farber Cancer Institute, Boston, MA, USA
Michael A. Thompson, Advocate Aurora Health, Milwaukee, WI, USA
Elizabeth Dawn Flick, Bristol Myers Squibb, Princeton, CA, USA
Pavel Kiselev, Bristol Myers Squibb, Princeton, CA, USA
Chrystal U. Louis, Bristol Myers Squibb, Princeton, CA, USA
Melissa Nifenecker, Bristol Myers Squibb, Princeton, CA, USA
Arlene S. Swern, Bristol Myers Squibb, Princeton, CA, USA
Tracy I. George, University of Utah and ARUP Laboratories, Salt Lake City, UT, USA

Document Type

Article

Publication Date

6-1-2021

Abstract

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

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.

Recommended Citation

Patel JL, Abedi M, Cogle CR, Erba HP, Foucar K, Garcia-Manero G, Grinblatt DL, Komrokji RS, Kurtin SE, Maciejewski JP, Pollyea DA, Revicki DA, Roboz GJ, Savona MR, Scott BL, Sekeres MA, Steensma DP, Thompson MA, Dawn Flick E, Kiselev P, Louis CU, Nifenecker M, Swern AS, George TI. Real-world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower-risk myelodysplastic syndromes. Int J Lab Hematol. 2021 Jun;43(3):426-432. doi: 10.1111/ijlh.13400. Epub 2020 Nov 21. PMID: 33220019; PMCID: PMC8247031.