OBJECTIVETo evaluate the four techniques for clonal analysis in the early diagnosis of myelodysplastic syndromes (MDS).

METHODSFour techniques for clonal analysis were performed in bone marrow samples from fifty patients with suspected MDS: (1) Conventional cytogenetics (CC) for clonal chromosomal abnormalities; (2) BrdU-sister chromatid differentiation (BrdU-SCD) for cell cycle analysis; (3) Fluorescence in situ hybridization (FISH) for trisomy 8; (4) PCR-SSCP for N-ras mutation.

RESULTSThe diagnosis of forty-five patients was compatible with FAB criteria of MDS, the other five patients didn't fully meet the FAB criteria. They had either only one lineage dyspoiesis or no any obvious dysplastic features and two of them were diagnosed as suspicious refractory anemia (RA), one as anemia with hypercellular bone marrow and two as chronic aplastic anemia. The results of the four techniques performed in them showed that four patients had clonal karyotype abnormalities, two had prolonged cell cycle, three had trisomy 8 of different proportions, and one had N-ras mutation. Thus, they were all diagnosed as RA.

CONCLUSIONThe untypical MDS patients can be diagnosed early by examination with combining several clonal analysis techniques.