Cytogenetic study of myelodysplastic syndrome from India.

Background & objectives: Myelodysplastic syndrome (MDS) represents a group of clonal haematological disorders characterized by progressive cytopenia reflecting defects in erythroid, myeloid and megakaryocytic maturation. The incidence of MDS is more in older age groups and frequent chromosome abnormalities reported to be monosomies 5 and 7. However, the data on cytogenetic changes in Indian MDS patients are scanty. The present study was therefore undertaken to study the aetiology and frequency of chromosomal changes in MDS patients, attending a tertiary care hospital in Maharashtra, India. Methods: The study was carried out in 145 MDS patients for six years (2001-2006) at National Institute of Immunohaematology (ICMR), and KEM Hospital, Mumbai, India. The patients were diagnosed according to FAB and WHO classification. Cytogenetic study was carried out using GTG-banding and fluorescence in situ hybridization (FISH) methods. Statistical analysis was done with c2 and Fisher’s exact test. Results: Chromosomal abnormalities, including novel chromosome aberrations were detected in 54.48 per cent MDS patients and frequency of chromosomal aberrations increased with increase in age (>30 yr). Among occupational exposure factors, chromosomal aberrations significantly (P<0.05) associated with pesticides exposure. Interpretation & conclusion: Our findings showed 54.48 per cent chromosome abnormalities including novel chromosome aberrations in MDS patients and these chromosome aberrations were increased with advancing age. In our series a high frequency of younger population (53%) developed MDS, a detailed molecular genetics and aetiological factors need to be studied.

Myelodysplasia and acute myeloid leukaemia in a case of rheumatoid arthritis with secondary amyloidosis treated with chlorambucil.

Immunosuppressive therapy related secondary haematologic malignancy is well reported. A 52 years lady with established rheumatoid arthritis developed reactive amyloidosis. This was initially treated with colchicine and cyclophosphamide and later with chlorambucil. Ten months after stopping chlorambucil she developed pancytopenia and vitamin B12 deficient megaloblastic anaemia. The pancytopenia was refractory to vitamin B12 supplements and a repeat bone marrow confirmed myelodysplasia (FABI RAEB-T). Within three weeks of this diagnosis she evolved into acute myeloid leukaemia and expired due to refractory thrombocytopenia and uncontrolled bleeding. This case stresses the need for long term follow up of RA patients treated with alkylating agents.