@article{3d1f9da12f044b32988daf7f4d8cca8e,
title = "Real-world diagnostic testing patterns for assessment of ring sideroblasts and SF3B1 mutations in patients with newly diagnosed lower-risk myelodysplastic syndromes",
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{\textregistered} 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{\textregistered} 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.",
keywords = "diagnosis, Myelodysplastic syndromes, Registry, ring sideroblasts, SF3B1",
author = "Patel, {Jay L.} and Mehrdad Abedi and Cogle, {Christopher R.} and Erba, {Harry P.} and Kathryn Foucar and Guillermo Garcia-Manero and Grinblatt, {David L.} and Komrokji, {Rami S.} and Kurtin, {Sandra E.} and Maciejewski, {Jaroslaw P.} and Pollyea, {Daniel A.} and Revicki, {Dennis A.} and Roboz, {Gail J.} and Savona, {Michael R.} and Scott, {Bart L.} and Sekeres, {Mikkael A.} and Steensma, {David P.} and Thompson, {Michael A.} and {Dawn Flick}, Elizabeth and Pavel Kiselev and Louis, {Chrystal U.} and Melissa Nifenecker and Swern, {Arlene S.} and George, {Tracy I.}",
note = "Funding Information: The authors would like to thank all the patients and their families, nurses, study personnel, and investigators who participated in the Connect{\textregistered} MDS/AML Registry and made this study possible, the clinical study teams who participated in the study, and the protocol managers for this study. The Connect{\textregistered} MDS/AML Disease Registry Scientific Steering Committee acknowledges the contributions of all past and current members of the committee for their guidance in the design of the Registry and participation in the analysis of the data, including Mehrdad Abedi, Rafael Bejar, Christopher Cogle, Harry Erba, Kathryn Foucar, Guillermo Garcia‐Manero, Tracy George, David Grinblatt, Rami Komrokji, Sandra Kurtin, Jarek Maciejewski, Daniel Pollyea, Dennis Revicki, Gail Roboz, Michael Savona, Bart Scott, Mikkael Sekeres, David Steensma, and Michael Thompson. This work was sponsored by Bristol‐Myers Squibb Company. The authors received medical writing and editorial assistance for this manuscript from Excerpta Medica (Victoria Edwards, PhD), funded by Bristol‐Myers Squibb Company. Funding Information: MA has served on an advisory board for Bristol Myers Squibb; and has participated in speaker panels for AbbVie, Bristol Myers Squibb, Gilead, Seattle Genetrix, and Takeda. CRC is a steering committee member for the Connect MDS/AML Disease Registry for Celgene, a Bristol‐Myers Squibb Company. HPE has participated in speakers bureau for Agios, Bristol Myers Squibb, Jazz Pharmaceuticals, Incyte, and Novartis; has provided consultancy to AbbVie, Agios, Amgen, Astellas, Bristol Myers Squibb, Daiichi Sankyo, Glycomimetics, ImmunoGen, Incyte, Jazz, MacroGenics, Novartis, Pfizer, and Seattle Genetics; has received research funding from AbbVie, Daiichi Sankyo, ImmunoGen, and Macrogenics; has served on a data safety and monitoring committee for Glycomimetics; and has served on an independent review committee for Covance. KF has served on an advisory board for Bristol Myers Squibb. DLG has provided consultancy to AbbVie; and has served on advisory boards for Astellas and Bristol Myers Squibb. RSK has participated in speakers bureau for Alexion, Jazz Pharmaceuticals, and Novartis; and has provided consultancy to Agios, Bristol Myers Squibb, Daiichi Sankyo, Inc, Incyte, Janssen, and Pfizer. SEK has provided consultancy to Agios and Bristol Myers Squibb. DAP has served on advisory boards for AbbVie, Agios, Bristol Myers Squibb, Daiichi Sankyo, Forty Seven, and Pfizer; provided consultancy to AbbVie, Agios, Bristol Myers Squibb, and Takeda; and has served on a data safety and monitoring committee for Glycomimetics. DAR has received research funding and provided consultancy to Allergan, Amgen, Bristol Myers Squibb, and Takeda. GJR has provided consultancy and has served on an advisory board or safety data monitoring committee for AbbVie, Actinum, Agios, Amphivena, Argenx, Astex, Astellas, Bayer, Bristol Myers Squibb, Celltrion, Daiichi Sankyo, Eisai, Janssen, Jazz Pharmaceuticals, Novartis, MEI Pharma, Orsenix, Otsuka, Pfizer, Roche/Genentech, Sandoz, Takeda, and Trovgene; and has received research funding from Cellectis. MRS has received patents and royalties from Boehringer Ingelheim; has served on advisory boards for Bristol Myers Squibb and Selvita; has served on advisory boards and has received research funding from Incyte, Takeda, and TG Therapeutics; has served on an advisory board, has provided consultancy, and holds equity in Karyopharm; and has received research funding from Sunesis. BLS has participated in speakers bureau for Agios; has participated in speakers bureau and provided consultancy to Alexion and Bristol Myers Squibb; has participated in speakers bureau and has served on an advisory board for Incyte; and has received research funding from Novartis. MAS has served on advisory boards for Bristol Myers Squibb, Millennium Pharmaceuticals, and Syros. DPS has received research funding from Aprea Therapeutics; holds equity in Arrowhead Pharmaceuticals; has provided consultancy to Astex Pharmaceuticals, Onconova Therapeutics, Pfizer, Stemline Therapeutics, and Summer Road; and has received research funding from H3 Bioscience. MAT has served on advisory boards for AbbVie, Adaptive, Bristol Myers Squibb, Doximity, GlaxoSmithKline, Syapse Precision Medicine, Takeda, and VIA Oncology (Elsevier ClinicaPath); and has received research funding from AbbVie, Bristol Myers Squibb, CRAB CTC, Denovo, Hoosier Research Network, Lilly, LynxBio, Strata Oncology, Takeda, and TG Therapeutics. EDF is an employee of Bristol Myers Squibb. PK, CUL, MN, and ASS are employees of and hold equity in Bristol Myers Squibb. TIG has provided consultancy to and is a member of the steering committee member for the Connect MDS/AML Disease Registry for Celgene, a Bristol‐Myers Squibb Company. JLP, GG‐M, and JPM have no conflict of interests to disclose. {\textregistered} {\textregistered} ",
year = "2020",
doi = "10.1111/ijlh.13400",
language = "English (US)",
journal = "International Journal of Laboratory Hematology",
issn = "1751-5521",
publisher = "Wiley-Blackwell",
}