Isolated deletion of the long arm of chromosome 20 del(20q12) in myelodysplastic syndrome: a case report and literature review.
- Author:
Somanath PADHI
1
;
Renu G'Boy VARGHESE
;
Manjiri Dilip PHANSALKAR
;
Rajlaxmi SARANGI
Author Information
1. Pondicherry Institute of Medical Sciences, Ganapathychettykulam, Puducherry 605014, India. somanath.padhi@gmail.com.
- Publication Type:Case Reports
- MeSH:
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
- From:Singapore medical journal
2013;54(9):e185-9
- CountrySingapore
- Language:English
-
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.
