Clinico-Hematological and cytogenetic spectrum of adult myelodysplastic syndrome The first retrospective cross-sectional study in Iranian patients

Abstract

Background Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different populations and geographic areas. Herein, we determined the cytogenetic spectrum and clinico-hematological features of Iranian MDS patients for the first time. Methods This prospective cross-sectional study was conducted on 103 patients with MDS in Ahvaz, southwest of Iran, from 2014 to 2018. Clinical presentations, complete blood counts (CBC), and bone marrow (BM) biopsy samples were assessed. Perls' staining was used to evaluate BM iron storage. The cytogenetic evaluation was performed using the conventional G banding method on the BM. Results Patients’ median age was 62.3 (ranged from 50–76), and the majority were male (72.8%). The most common clinical symptom at the time of admission was fatigue (n = 33) followed by pallor (n = 27). The most common subgroup was MDS-Multi Lineage Dysplasia (MDS-MLD) (n = 38, 36.8%), followed by MDS-Single Lineage Dysplasia (MDS-SLD) (n = 28, 18.4%). A normal karyotype was observed in 59 patients (57.3%), while 44 patients (42.7%) had cytogenetic abnormalities. Trisomy 8 (+ 8) was the most common cytogenetic abnormality (n = 14) followed by dell 17p (n = 9) and monosomy 7 (-7) (n = 7). Twelve patients (11.65 %) were transformed to AML. Conclusion Our data betokened that among our MDS patients, Trisomy 8 is the predominant cytogenetic abnormality, and MDS-MLD and MDS-SLD are the most common of subtypes. Noteworthy, the male: female ratio was slightly higher in Iran than in previous reports from other parts of the world. Our study is the first report of the clinical, hematological, and cytogenetic spectrum of MDS patients in Iran

Involvement of classic and alternative non-homologous end joining pathways in hematologic malignancies: targeting strategies for treatment

“…Several studies have shown that MDS cases are at significance risk of transforming into AML. Various predicting factors, such as mutations in NRAS, KRAS, PTPN11, FLT3-ITD, NPM1, WT1, and IDH2, as well as monosomy 7, complex karyotype, and loss of 17p have been found to be related to MDS transformation into AML [113,114]. MDS refers to HSC diseases and is characterized by an elevated NHEJ activity [115].…”