Isolated deletion of the long arm of chromosome 20 [del(20q12)] in myelodysplastic syndrome: a case report and literature review.
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.
Pondicherry Institute of Medical Sciences, Ganapathychettykulam, Puducherry 605014, India. somanath.padhi@gmail.com.
Somanath
S
Padhi
Renu G'Boy
RG
Varghese
Manjiri Dilip
MD
Phansalkar
Rajlaxmi
R
Sarangi
D000368:Aged; D001707:Biopsy, Needle; D001854:Bone Marrow Cells / Q000473:pathology*; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009190:Myelodysplastic Syndromes / Q000175:diagnosis / Q000235:genetics*