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Padhi S, Varghese RG, Phansalkar MD, Sarangi R
Correspondence: Dr Somanath Padhi, somanath.padhi@gmail.com
ABSTRACT
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.
Keywords: del20q12, FISH, myelodysplastic syndrome, thrombocytopenia
Singapore Med J 2013; 54(9): e185-e189; http://dx.doi.org/10.11622/smedj.2013119
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