A Case of Myelodysplastic Syndrome with Atypical Cytogenetics: A Case Report

Background Myelodysplastic syndrome (MDS) is a group of hematological malignancies characterized by ineffective hematopoiesis and peripheral blood cytopenias due to bone marrow dysfunction and dysplasia, carrying a significant risk of progression to acute myeloid leukemia (AML). Cytogenetic abnormalities in MDS are critical determinants of disease classification, prognosis, and therapeutic approaches, influencing clinical outcomes. MDS with complex cytogenetic anomalies poses significant prognostic and therapeutic challenges. While alterations involving chromosomes 5, 7, 8, and 20 are common in MDS, anomalies involving other chromosomes are less commonly reported. This case highlights novel atypical cytogenetic abnormalities contributing to existing medical knowledge, emphasizing the importance of detailed cytogenetic evaluation in patients with MDS. Case Presentation We present a case of a male patient in his mid-seventies with multiple comorbidities who presented with recurrent infections and petechiae. Considering risk factors, the patient had a significant history of smoking and a family history of AML. Complete blood count indicated severe pancytopenia with pronounced neutropenia and thrombocytopenia, while the blood picture revealed dysplastic features in all cell lineages. Considering these features, a bone marrow biopsy was performed to evaluate an underlying bone marrow pathology, revealing trilineage dysplasia with an elevated blast count (~ 18%), consistent with myelodysplastic syndrome with increased blast subtype 2 (MDS-IB2) according to the 5th edition of the World Health Organization classification on haematolymphoid tumours. Further molecular cytogenetic analysis was performed by karyotyping and fluorescence in situ hybridization. It revealed two abnormal cell lines exhibiting alterations involving chromosomes 3, 5, 7, 18, 19, and 21, indicating an atypical complex karyotype. The patient was categorized as very high-risk according to the Revised International Prognostic Scoring System, and a tailored therapeutic approach was initiated promptly. Despite prompt therapeutic intervention, the patient rapidly deteriorated and succumbed to neutropenic sepsis within two weeks of diagnosis. Conclusion This case highlights the prognostic value of identifying novel and complex cytogenetic anomalies in MDS, highlighting their significant impact on disease outcome and management strategies. These findings emphasize the necessity of comprehensive and early molecular cytogenetic evaluations, including detailed karyotyping and targeted FISH analyses, to facilitate accurate prognosis and optimized patient management.