Cytogenetic profile of myelodysplastic syndrome: A retrospective study

Objectives: The objectives are to evaluate cytogenetic abnormalities in patients diagnosed with myelodysplastic syndromes (MDSs) using conventional karyotyping complemented by fluorescence in situ hybridization (FISH). The study further aimed to determine the frequency and spectrum of structural and numerical chromosomal abnormalities, categorize cases according to established prognostic risk groups, and compare the findings with existing global literature. Material and Methods: This retrospective study included 281 patients diagnosed with MDSs who were referred to the cytogenetics laboratory between January 2021 and July 2025. The cohort comprised 154 males and 127 females. Bone marrow samples were collected and processed according to standard protocols. Conventional cytogenetic analysis, along with interphase FISH, was performed in all cases. A minimum of 20 metaphases were analyzed for each sample. Results: Conventional karyotyping and FISH analyses were successfully performed in all 281 cases. A normal karyotype was observed in 87% of patients. Clonal cytogenetic abnormalities were identified in the remaining cases, with the most frequent abnormalities being del(7q)/monosomy 7, del(5q), del(20q), and trisomy 8. Complex karyotypes were less frequent and were predominantly associated with higher-risk prognostic groups. The incorporation of FISH enhanced the detection of cryptic chromosomal abnormalities not evident on conventional karyotyping. Conclusion: This retrospective cytogenetic analysis highlights the spectrum of chromosomal abnormalities in an Indian MDS cohort. The combined use of conventional karyotyping and FISH effectively identifies clinically relevant cytogenetic abnormalities in MDS. The findings provide valuable insight into the cytogenetic profile of MDS in the Indian population and underscore the importance of integrated cytogenetic approaches for accurate risk stratification.