Aplastic manifestations of myelodysplastic syndrome as evidenced by cytogenetic studies

ABSTRACT

To detect chromosomal aberrations characteristic of myelodysplastic syndrome [MDS] in cases presenting as aplastic anaemia. A prospective study of all newly diagnosed cases of aplastic anaemia for the detection of chromosomal abnormalities over a period of two years. Twenty cases of aplastic anaemia and 8 cases of Myelodysplastic Syndrome [control] were analyzed cytogenetically. The suspected cases of congenital aplastic anaemia and those already on some treatment [other than supportive] were not included in the study. Cytogenetic analysis was done by Giemsa-Trypsin banding technique. Both direct and stimulated cultures were set up. Out of 20 patients studied, in 4 there was culture failure. Number of available patients was thus 1 6. Only 2 out of 16 patients diagnosed as aplastic anaemia showed chromosomal abnormalities. One had Robertsonian translocation t [1315] of no clinical significance. However, 1 out of 16 patients [6.25%] had clonal change characteristic of MDS i.e. 46, XY/45.XY, del [5q],-6. In the control group of 8 patients of MDS, 5 showed chromosomal aberrations. In 2 out of 5 monosomy 7 was detected, in 1 del [5q] and in other del [7q] was detected. One patient showed Robertsonian translocation t [1315]. Clonal changes in cases of aplastic anaemia although low in frequency at the time of presentation may be seen in upto 6.25% of cases. These cases may very well be of Hypoplastic MDS. If serial cytogenetic analysis and monitoring of blood counts are carried out more patients may be found to develop cytogenetic abnormalities and finally MDS