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BioMed Research International
Volume 2014 (2014), Article ID 542395, 10 pages
Research Article

Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

1Bone Marrow Transplantation Center, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil
2Mathematical and Statistical Institute of Federal Fluminense University (UFF), 24020-140 Niterói, RJ, Brazil
3Arthur Siqueira Cavalcanti Hematology Institute (HEMORIO), 20211-030 Rio de Janeiro, RJ, Brazil
4Hematology Service, National Cancer Institute (INCA), 20230-130 Rio de Janeiro, RJ, Brazil
5Pediatric and Puericulture Martagão Gesteira Institute, Federal University of Rio de Janeiro, 21941-590 RJ, Brazil

Received 28 February 2014; Accepted 7 July 2014; Published 11 August 2014

Academic Editor: Emin Karaca

Copyright © 2014 Daiane Corrêa de Souza et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients ( < 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes ( < 0,0001), evolution of disease ( < 0,0001), and mortality ( < 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.