Specificity of haematological indicators for '5q- syndrome' in patients with myelodysplastic syndromes.
83 patients with myelodysplastic syndromes were analyzed for the presence of three haematological features: (1) macrocytic anaemia, (2) normal or high platelet count and (3) megakaryocytic hypolobulation in most megakaryocytes. In 10 of the 83 patients, a 5q- chromosome was the only clonal aberration; 31 patients had other chromosomal aberrations (including 6 patients with 5q- chromosome and other abnormalities in the same clone) and 42 patients had a normal karyotype in their bone marrow cells. 9 patients displayed all three haematological features investigated. In 8 of these patients the 5q- chromosome was the only clonal aberration. The 9th patient had a karyotype of 47,XX, + 8. None of the 6 patients with 5q- chromosome and additional abnormalities in the same clone fulfilled all criteria. The '5q- syndrome', a situation with the 5q- chromosome as a sole aberration, should be accepted as a diagnostic entity within the macrocytic anaemias. This syndrome can be suspected on the basis of the above haematological indicators and the diagnosis confirmed with bone marrow karyotype analysis.
Teerenhovi
L
L
Department of Medical Genetics, University of Helsinki, Finland.
D000368:Aged; D000748:Anemia, Macrocytic / Q000097:blood / Q000209:etiology; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008533:Megakaryocytes / Q000473:pathology; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood / Q000235:genetics*; D010976:Platelet Count; D013577:Syndrome