Dicle Tıp Dergisi, vol.49, no.2, pp.333-342, 2022 (Peer-Reviewed Journal)
Objective: A myelodysplastic syndrome (MDS) is a heterogeneous group of diseases characterized by abnormal cellular proliferation in the bone marrow, cytopenia in one or more cell lines in the peripheral blood, dysplasia in the bone marrow, and risk of developing acute myeloid leukemia (AML).This study aims to evaluate demographic data, conventional cytogenetics, Fluorescent in situ hybridization (FISH), and prognostic features in MDS patients.
Methods: Patients aged 18 years and over 18 years of age with MDS who were followed up in the DEUTF Hematology Department between January 2010 and January 2020 were included in this study. The data of the patients were searched retrospectively. Hemogram, biochemistry, cytogenetic and FISH results, survival, treatments, cytopenia grades, bone marrow blast percentages, bone marrow biopsy results of patients diagnosed at any time were examined.
Results: A total of 205 patients over the age of 18 diagnosed with MDS and followed up between January 2010 and January 2020 were included in the study. The female/male ratio was found to be 0.8/1. The median was 70.7 (27-92). The median hemoglobin value was 9.4 g/dl (4.8-14.5). MDS cases are classified according to the 2016 Revised-WHO Classification; it was detected in the MDS-SLD group with the highest 78 patients (38%). A normal karyotype was found in 112 (79.4%) of 141 patients for whom conventional cytogenetic analysis could be performed, and the most common cytogenetic anomaly detected with this method was complex karyotype (n=9, 6.3%). The median survival of 135 patients with the FISH panel was evaluated according to their genetic anomalies. According to the FISH result, in the patient populations with 7q deletion and P53 mutation, decreased median survival times were statistically significant compared to the group without mutation (p-value <0.05). It was determined that survival decreased significantly as the percentage of CD34 increased in the bone marrow. When the median survival of the patients was evaluated according to the IPSS stage, the median survival of the patients in the advanced stage was statistically significantly lower.
Conclusion: Studies on the genetic basis of myelodysplastic syndrome play an essential role in shaping the diagnosis, staging, prognosis, and treatment methods of the disease.