A clinico-genomic prognostic model for primary myelodysplastic neoplasm in Asia

Abstract

<p>A personalized prognostic model that takes into account the unique molecular features of primary myelodysplastic neoplasm (MDS) in Asia patients is lacking. Diagnostic clinicopathologic features, cytogenetic changes, and gene mutations of ethnic Asian patients with primary MDS were analyzed. Variables were evaluated for associations with overall survival (OS), leukemia-free survival (LFS), and time to progression to secondary AML (TTP-sAML). Prognostic scores were built as a weighted sum of prognostic variables for each patient. The cohort comprised 1225 patients, with at least one gene mutation identified in 1177 patients (96%). Genomic factors associated with inferior outcomes included monosomy 7, del(5q), and <em>GNAS</em> and <em>TP53</em> mutations for OS; trisomy 19, del(5q), monosomy 7, and <em>GNAS</em>, <em>PTPN11</em> and <em>TP53</em> mutations for LFS; and i(17q), del(5q), and <em>NPM1</em>, <em>NRAS</em>, <em>GNAS</em>, <em>IDH2</em>, <em>SF3B1</em> and <em>RUNX1</em> mutations for TTP-sAML. The Asian Prognostic Scoring System (APSS) was determined, stratifying patients into six prognostic risk categories. The APSS, compared with the International Prognostic Scoring System molecular (IPSS-M), showed superior concordance indices (C-indices) for OS (0.73 <em>versus</em> 0.57), LFS (0.72 <em>versus</em> 0.59), and TTP-sAML (0.75 <em>versus</em> 0.65) for this Asian cohort. In conclusion, the APSS enhanced prognostication of primary MDS in Asia.<br></p>