Molecular Cytogenetics Of Myelodysplastic Syndrome – Hospital Based Study

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Date
2014-07
Authors
Isa, Asmida
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Publisher
Universiti Sains Malaysia
Abstract
Myelodysplastic Syndrome (MDS) is a haematological condition characterised by hypercellular bone marrow and low peripheral blood counts. The objectives of this study were to identify chromosomal aberration using conventional cytogenetics and array comparative genomic hybridisation (array-CGH) in MDS patients and correlate with its’ haematological findings. A total of 8 patients were recruited. Cytogenetic results revealed six normal karyotypes, a karyotype with structural abnormalities (del(5)(q13q33) and a karyotype with complex rearrangement (t(1;11), t(2;11), del(4p), del(5p), del(9p)). By array-CGH technique, known cytogenetic aberrations, complex chromosome aberrations and rare/cryptic aberrations (<5 Mb) were detected. In the case of common aberrations, del5q (q13.1 - q13.2 (2.4 Mb)) and large amplification of chromosome 8 (p23.3-p11.1 (46.3 Mb) and q11.1-q24.3 (98.7 Mb)) were detected. In complex aberrations, the aberrations involved from 0.7 Mb to 98.7 Mb in size. These patients showed similarities of haematological findings. Five cryptic aberrations were identified in 3 patients (0.7 Mb to 4.8 Mb). As a conclusion, common, complex and cryptic aberrations were detected in MDS patients. The associated haematological findings could provide useful information to stratify the suitability of the treatments for the patients. These findings also might contribute to the heterogeneity of choromosomal aberrations in MDS patients.
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Keywords
Molecular cytogenetics of , myelodysplastic syndrome
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