Lineage involvement and karyotype in a patient with myelodysplasia and blood basophilia

Abstract:  We report a 63‐year‐old woman with myelodysplastic syndrome (MDS), refractory anaemia with ring sideroblasts (RARS), and blood basophilia with pathological forms. Karyotype analysis revealed a complex rearrangement: 46,XX,del(3) (p13p25),del(5) (q13q33),der(16)t(1;16) (p 13;q 12)/47,idem,add(20) (?p1l)/49,idem, + add(1) (q32),add(20) (?p11), + mar/46,XX. Karyotype, immunophenotype and in situ hybridization studies by the MAC (morphology antibody chromosomes) combination technique revealed the chromosomal abnormality in granulocytic/monocytic and erythrocytic metaphase cells. Also mature basophils and other granulocytes were involved with the abnormality. We suggest that our patient with the MDS has a stem cell disorder affecting all myeloid cell lineages and that basophilia constitutes a part of the malignant process.