Background:
Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematopoietic disorders characterized by recurrent chromosomal abnormalities that guide diagnosis and prognosis. Der(1;7) is a relatively rare abnormality and was reported in 1-3% of MDS patients and 1-2% of acute myeloid leukemia (AML) patients. However, due to its rare occurrence, its prognostic evaluation remains under investigation.
Case Presentation:
The present case was a 62-year-old male from the country of Bahrain with a chromosomal abnormality of der(1;7)(q10;p10) along with a clonal evolution of deletion of chromosome 20q. A comprehensive assessment combining morphology, immunophenotyping, karyotyping, and fluorescence in situ hybridization (FISH) provided valuable insights into the characterization and clonal behavior of this rare abnormality. The importance of the international prognostic scoring system-revised (IPSS-R) scoring in guiding treatment decisions, particularly highlighting the relevance of allo-grafting based on genetic findings in intermediate-risk cases was discussed.
Conclusion:
The present study aligns with and supports ongoing efforts to refine the classification system by recognizing der(1;7) as an independent entity within the MDS classification, distinct from monosomy 7 or deletion 7q, with the ultimate goal of advancing personalized treatment approaches.
Key words: MDS, der(1;7)(q10;p10), Karyotyping, FISH, Case Report.
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