Cytogenetic Findings in Adult Greek Myelodysplastic Syndrome Patients: Predominance of Single Trisomy 8

Abstract

Myelodysplastic syndrome (MDS) is a clonal disorder of the pluripotent hematopoietic stem cells which is characterized by ineffective and dysplastic hematopoiesis. The pathogenesis of MDS is not well defined and it appears that multiple genetic changes are involved. Several studies have shown that certain chromosomal abnormalities may be influenced by environmental factors, while differences in the incidence of certain aberrations in different areas have also been reported. The aim of this study was to investigate the frequency and the type of chromosomal changes in Greek primary MDS patients. Single chromosomal abnormalities were focused on as possibly being primary changes implicated in the initiation of the neoplastic process. Using conventional cytogenetics, 239 MDS patients were studied and 63 cases were found with an abnormal karyotype (26.36%). Among the cytogenetically abnormal cases, 46 patients presented single chromosomal abnormalities (73.01%). These aberrations were according to frequency +8 (28.57 %), del(5q), -7/del(7q) and +14 (6.35 % each), i(17q) and del(11)(q13) (4.76 % each), +11, -Y, i(1q), del(8q), del(18p) and t(X;11) (1.59 % each). In conclusion, the incidence of chromosomal abnormalities in Greek MDS patients was lower than that reported in the literature. The most common single anomaly was trisomy 8, while a relatively high incidence of an isolated +14 was also observed. Notably, this is the first time an isolated i(1q) has been described in the literature.