326 Assessing the Correlation Between SF3B1 Variants and Ring Sideroblasts Percentage in Patients With Myeloid Neoplasm Undergoing Next-Generation Sequencing. (11th January 2018)

• Record Type: Journal Article
• Authors: Balbuena-Merle, Raisa; Howe, John Greg; Hager, Karl; Torres, Richard; Rinder, Henry; Tormey, Christopher; Siddon, Alexa
• Is Part Of: American journal of clinical pathology. Volume 149(2018)Supplement 1
• Page Start: S140
• Page End: S141
• Publication Date: 2018-01-11
• Subjects: Diagnosis, Laboratory -- Periodicals; Pathology -- Periodicals; 616.07
• DOI: 10.1093/ajcp/aqx127.325
• Languages: English
• ISSNs: 0002-9173

Abstract

Abstract: SF3B1 "hotspot" variants have been associated with the presence of ring sideroblasts in patients with myelodysplastic syndrome (MDS). However, it is unclear whether any variant SF3B1 might be associated with an increase in ring sideroblasts across the spectrum of myeloid neoplasms. As such, we compared patients with myeloid disorders who underwent next-generation sequencing (NGS) to compare the percentage of ring sideroblasts and clinical features when SF3B1 variants were detected. We identified 13 patients with SF3B1 variants; 10 randomly selected patients with myeloid neoplasms lacking SF3B1 mutations were used as controls . SF3B1 variants were identified using a 25-gene panel and interrogated via the Ion Torrent, while ring sideroblasts were quantitated using the aspirate. Age, sex, disease classification, SF3B1 variant type, ring sideroblast percentage, and progression to acute leukemia were recorded for each subject. Among 13 patients with variant SF3B1, the mean age was 73.5 years, 62% were women, and 92.3% were still alive at the time of study. The majority (84.6%) had variants in known SF3B1 "hotspots." Of these 13 patients, nine (69.2%) met World Health Organization criteria for a recognized myeloid neoplasm with ring sideroblasts. Compared to controls, the mean percentage of ring sideroblasts was significantly higher in patients with any SF3B1 variant (31.2% vs 2.7%; P = .0011). Among patients with SF3B1 variants in known hotspots, there was a trend toward higher ring sideroblasts (mean 34.8%) as compared to non-hotspot variants (mean 11.5%), although numbers were too small for statistical comparisons. Subjects with any S F3B1 variant and myeloid neoplasm with ring sideroblasts had a lower incidence of high-grade MDS and progression to acute leukemia compared with controls. In summary, SF3B1 variants correlated with an increased number of ring sideroblasts independent of diagnosis. Given their unique attributes, SF3B1 -hostspot-positive myeloid neoplasms, particularly those associated with MDS, may ultimately be best characterized as a distinctive entity.