Clinico-Pathological Spectrum and Novel Karyotypic Findings in Myelodysplastic Syndrome: Experience of Tertiary Care Center in India

BACKGROUND Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by the presence of cytopenia/s. Limited data are available about the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinico-pathological, morphological and cytogenetic spectrum of Indian MDS patients. MATERIAL AND METHODS A retrospective analysis of all patients diagnosed with MDS from June 2012 to December 2016 was performed. Their clinical and laboratory data were collated and reviewed. RESULTS A total of 150 patients with primary MDS were evaluated with M: F ratio of 1.6:1 and the median age of 55.5 years. 64% patients presented with pancytopenia and 31% with bicytopenia. Morphologically they included MDS-MLD [63 (42%)], MDS-EB 2, [33 (22%)], MDS-EB 1 [32 (21.3%)], MDS-SLD [13 (8.6%)] and two cases (1.4%) each of MDS-SLD-RS, MDS-MLD-RS, and RCC. An abnormal cytogenetic profile was detected in 50% patients. Complex karyotype was observed to be the commonest abnormality (32.5%), and chromosome 7 was the most frequently involved chromosome. Isolated deletion 5q was seen in 6.9 % cases. Novel translocations like t(9;22)(q11.2;q34.2), t(1;5)(p22;q33), t(1;12)(p34;p11.2) and t(5;7;9)(q13;q32;p22) were observed in addition to other complex abnormalities. The majority of the patients belonged to the high risk IPSS-R prognostic groups (31.4%); followed by intermediate and very high-risk groups, 29% and 24.4% respectively. CONCLUSION The median age of patients in India is a decade younger than the western population. Complex karyotype was observed to be the commonest cytogenetic abnormality, while the frequency of deletion 5q and trisomy 8 was much lower as compared to the west. The majority of the patients were in high to very high IPSS-R risk categories and seventy percent individuals below 40 years showed abnormal karyotype, indicating that Indian MDS patients have high disease burden at a young age and thus more likelihood for leukemic transformation.