A multimodal approach in the diagnosis of patients with hematopoietic disorders

Melodysplastic syndromes (MDS) are a group of relatively ill-defined hemato poietic disorders in which both qualitative and quantitative defects of the hematopoietic cells cause bone marrow dysfunction. With an incidence estim ated to be approximately 1 per 100,000 persons per year, MDS mainly affects the elderly. Myelodysplastic syndromes share many features with acute nonl ymphocytic leukemia; in fact, a proportion of patients with MDS eventually develop acute myeloid leukemia. To illustrate a multimodal approach in the diagnosis of patients with hematopoietic disorders, we describe a 66-year-o ld patient with a question of myelodysplastic syndrome, leukemia, and two t ranslocations involving chromosome 10: t(5;10] and t(7;10). These structura l rearrangements effectively gave rise to monosomy for part of the long arm nf chromosome 5 and fnr the long am of chromosome 7. Findings of del[5q] a nd del[7] in RIDS have been reported in the literature. The results of chro mosome morphometry: which was conducted to compare the lengths of all relev ant chromosome segments, are consistent with the hypothesized chromosomal a bnormalities. The investigational technique of fluorescence in situ hybridi zation (FISH), using both painting and a-satellite probes, was used as an a djunct to conventional cytogenetics to further delineate the nature of the chromosome abnormalities observed in the GTG-banded studies. Confirmatory s tudies utilizing the new technique of spectral karyotyping (SKY) were also carried out. Thus, the multimodal approach of hematopathology, GTG-banding, chromosome morphometry FISH, and SKY can be very useful for delineating co mplex cytogenetic cases. (C) Elsevier Science Inc., 1999. All rights reserv ed.