Clinico-pathological spectrum and novel karyotypic findings in myelodysplastic syndrome: Experience of tertiary care centre in India

摘要

Background: Myelodysplastic syndrome (MDS) is a heterogeneous disorder characterized clinically by presence of cytopenia/s. Limited data is available pertaining to the morphological spectrum and cytogenetic profile of Indian MDS patients. The aim of the study was to ascertain the clinco pathological, morphological and cytogenetic spectrum of Indian MDS patients. Material and methods: A retrospective analysis of all patients diagnosed as MDS from June 2012-December 2016 was performed. Their clinical and laboratory data was collated and reviewed. Results: A total of 150 patients of as primary MDS were evaluated with M: F ratio of 1.6:1 and median age of 55.5 years. 64% patients presented with pancytopenia, with thrombocytopenia alone was seen in only 2 cases. There were 66 (44%) cases of MDS-MLD, 33 (22%) MDS-EB 2, 32 (21.3%) MDS–EB 1, 13 (8.6%) cases MDS-SLD and two cases each of MDS-SLD-RS, MDS-MLD-RS and RCC. Cytogenetic data was available in 86/150 patients, 50% of which were abnormal. Complex karyotype was observed to be the commonest abnormality (27.5%). Novel translocations like t(9;22)(q11.2;q34.2) in addition to other abnormalities (n=3), t(2;4)(p25;q23),t(1;5)(p22;q33), t(1;12)(p34;p11.2) and t(5;7;9;)(q13;q32;p22) were observed. Conclusion: The median age of patients in India is almost a decade younger than the western population. Moreover, majority of the patients belonged to the high risk IPSS-R prognostic group (31.4%), followed by intermediate (29%) and very high risk groups (24.4%) in our cohort of patients. Seventy percent individuals, < 40 years belonged to the high prognostic categories, indicating that Indian MDS patients have high disease burden and in turn more likelihood for leukemic transformation.