Isolated deletion of the long arm of chromosome 20 [del(20q12)] is a rare abnormality in patients with de novo myelodysplastic syndrome. It is characterised by refractory thrombocytopenia, minimal haematological dysplasia and a lower risk for progression to acute myeloid leukaemia. Its distinction from chronic autoimmune thrombocytopenia, although clinically and morphologically difficult, is critical. We report a case of refractory cytopenia and unilineage dysplasia in an elderly woman with isolated del(20q12), identified via fluorescence in situ hybridisation analysis of her bone marrow. In order to avoid a misdiagnosis, we suggest that cytogenetic analysis be performed on all patients suspected to have myelodysplastic syndrome with predominant thrombocytopenic presentation.
Aged ; Biopsy, Needle ; Bone Marrow Cells ; pathology ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Female ; Flow Cytometry ; Humans ; In Situ Hybridization, Fluorescence ; Myelodysplastic Syndromes ; diagnosis ; genetics