Clinicopathological profile of myelodysplastic syndrome (MDS) with monosomy 7 and deletion 7q: An institute experience

Abstract

Objective Assessment of clinicopathological and bone marrow parameters in Myelodysplastic Syndrome (MDS) with monosomy 7 and deletion (del) 7q and their prognostic stratification. Material and Methods Retrospective observational study of MDS patients with monosomy 7 and deletion (del) 7q was conducted from January 2013 to August 2021. Demographic, clinical, and hematological variables were acquired apart from cytogenetic analysis and karyotyping. Prognostic International Prostate Symptom Score (IPSS) risk stratification was performed. Results 110 patients of MDS underwent cytogenetics study, 8 patients had monosomy 7, and 17 patients had del 7q. The median age group for both subsets was 51–54 years. Both groups showed male predominance. In monosomy 7 MDS, severe anemia was more profound (87%) in comparison to del 7q (53%). Absolute neutrophil count (ANC) of <800/cubic mm was found equally in both groups. 88% of both the subsets had platelet count <50 thousand/liter with higher Lactate Dehydrogenase (LDH) in the del 7q group (81.25%). About 50% of MDS cases with monosomy 7 and 37.5% of del 7q cases had excess blasts of > 5%. Based on the Revised International Prognostic Scoring System (IPSS-R), 75% of patients in both subsets had a high and very high-risk category. Progression to Acute myeloid leukemia (AML) was more common in monosomy 7 than in del 7q (23% vs 24 %). Conclusion Early age of presentation with predominance in men was noted in both the groups. The IPSS-R score was more valid in determining the risk category for predicting the course of these patients rather than considering cytogenetic type alone. However, more cases need to be analyzed to validate our findings.