University of Utah and ARUP Laboratories, Salt Lake City, UT, USA.
University of California, Davis, Sacramento, CA, USA.
Int J Lab Hematol. 2021 Jun;43(3):426-432. doi: 10.1111/ijlh.13400. Epub 2020 Nov 21.
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.
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.
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.
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.
环形铁幼粒细胞（RS）的存在和 SF3B1 基因突变是低危（LR）骨髓增生异常综合征（MDS）的诊断特征，与良好的预后相关。然而，关于社区临床环境中检测和报告的信息很少。本项来自 Connect MDS/AML 疾病登记处的研究旨在比较 2016 年世界卫生组织（WHO）MDS 分类标准发布前后，LR-MDS 患者中 RS 和 SF3B1 报告的频率。
在登记处登记时，从 LR-MDS 患者中收集了环形铁幼粒细胞评估和分子检测数据。本分析纳入了 2013 年 12 月至 2020 年 3 月数据截止日期之间登记的 489 例 LR-MDS 患者。
在 489 例 LR-MDS 患者中，有 434 例（88.8%）进行了 RS 评估；其中 190 例在 2016 年 WHO 指南之前（队列 A），244 例在之后（队列 B）进行了评估。在队列 A 中，有 87 例（45.8%）患者存在 RS；其中 29 例（33.3%）患者的 RS＜15%，均未进行 SF3B1 分子检测。在队列 B 中，有 96 例（39.3%）患者存在 RS；其中 31 例（32.3%）患者的 RS＜15%，其中 13 例行分子检测，其中 10 例评估了 SF3B1。
在 Connect MDS/AML 登记处，在 2016 年 WHO 分类标准发布后，仅有 32%的＜15% RS 患者进行了 SF3B1 检测。尽管对诊断亚型和治疗选择有潜在影响，但在标准发布前后 RS 评估频率没有变化，这表明需要进行教育以提高 SF3B1 突变检测率。
