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Specificity of haematological indicators for ‘5q‐ syndrome’ in patients with myelodysplastic syndromes
Author(s) -
Teerenhovi L.
Publication year - 1987
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1987.tb00777.x
Subject(s) - karyotype , clone (java method) , macrocytic anemia , bone marrow , myelodysplastic syndromes , chromosome , chromosome aberration , pathology , cytogenetics , biology , bone marrow examination , medicine , gastroenterology , genetics , anemia , dna , gene
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 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.