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

backgroundMyelodysplastic 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

methodsA 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.

resultsA 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.

conclusionThe 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.