title: 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) (p13;q12)/47,idem,add(20)(?p11)/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.
authors: Department of Medical Genetics, University of Helsinki, Finland.
authors: W
authors: W
authors: el-Rifai
authors: T
authors: T
authors: Pettersson
authors: M L
authors: ML
authors: Larramendy
authors: S
authors: S
authors: Knuutila
mesh_terms: D001491:Basophils / Q000473:pathology; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D002999:Clone Cells; D005260:Female; D006801:Humans; D007621:Karyotyping; D008856:Microscopy, Fluorescence; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000473:pathology*