The Diagnostic Role of Cytogenetic Abnormalities in Myelodysplastic Syndromes
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- Category: Vol. 85, March 2017
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The Diagnostic Role of Cytogenetic Abnormalities in Myelodysplastic Syndromes, USAMA F. SHAALAN, YASSER H. EL-NAHASS, WAFAA H. EL-METNAWY and LAMIAA T. YOUSSIF
Abstract
Objective: To emphasize the importance of cytogenetic in the diagnosis of myelodysplastic syndrome in Egyptian patients.
Methods: Conventional cytogenetic analysis was per-formed at the time of diagnosis, chromosome identification and karyotype description was done according to the Interna-tional System for Human Cytogenetic Nomenclature (ISCN, 2013), and complete clinical characteristic data was obtained from thirty five MDS Egyptian patients registered at the Cytogenetic laboratory of Early Detection of Genetic disorder in Children Unite (EDGCU)-Genetic Engineering and Bio-technology Research Institute (GBRI)-Sadat City University. Patients were rolled from National Cancer Institute (NCI)- Cairo University.
Results:
* The 35 MDS patients were include 21 males (60%) and 14 females (40%) with mean age of 56 years and median age of 58 years.
* 32 (91.4%) patients were classified as primary MDS and 3 (8.6%) patients were classified as secondary MDS.
* RCMD was the most frequent reported MDS subtype (37.1%) followed by RCUD (RA) (17.1%).
* Out of all 35 MDS patients 17 (48.6%) showed normal karyotype and 18 (51.4%) showed clonal karyotypic abnor-malities at diagnosis.
* Out of 32 patients with primary MDS 17 (53.1%) had normal karyotype and 15 (46.9%) had abnormal karyotype while 3 (100%) of patients with secondary MDS had abnormal karyotype.
* Patients with RAEB-II MDS subtype had the highest fre-quency of chromosomal abnormality (66.7%) among our primary MDS patients.
Conclusion: MDS patients with RAEB-II had the highest frequency of chromosomal abnormality among primary MDS patients. There are large similarities in characteristics of MDS occurring in our Egyptian patients, Tunisian, and European patients. Cytogenetic changes continue to offer useful infor-mation to the clinician in establishing accurate diagnosis, predicting prognosis and planning for treatment of patients.