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Case Report
Online Published: 12 Jan 2025
 


Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study

Suhaib Mohammad Ali Abunaser, Cigdem Pala Ozturk, Anurita Pais.


Abstract
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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How to Cite this Article
Pubmed Style

Abunaser SMA, Ozturk CP, Pais A. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. JBCGenetics. Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178

Web Style

Abunaser SMA, Ozturk CP, Pais A. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. https://www.jbcgenetics.com/?mno=215738 [Access: January 12, 2025]. doi:10.24911/JBCGenetics.183-1723721178

AMA (American Medical Association) Style

Abunaser SMA, Ozturk CP, Pais A. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. JBCGenetics. Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178


Vancouver/ICMJE Style

Abunaser SMA, Ozturk CP, Pais A. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. JBCGenetics, [cited January 12, 2025]; Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178


Harvard Style

Abunaser, S. M. A., Ozturk, . C. P. & Pais, . A. (2024) Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. JBCGenetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178


Turabian Style

Abunaser, Suhaib Mohammad Ali, Cigdem Pala Ozturk, and Anurita Pais. 2024. Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. Journal of Biochemical and Clinical Genetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178


Chicago Style

Abunaser, Suhaib Mohammad Ali, Cigdem Pala Ozturk, and Anurita Pais. "Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study." Journal of Biochemical and Clinical Genetics Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178


MLA (The Modern Language Association) Style

Abunaser, Suhaib Mohammad Ali, Cigdem Pala Ozturk, and Anurita Pais. "Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study." Journal of Biochemical and Clinical Genetics Online First: 12 Jan, 2025. Web. 12 Jan 2025 doi:10.24911/JBCGenetics.183-1723721178


APA (American Psychological Association) Style

Abunaser, S. M. A., Ozturk, . C. P. & Pais, . A. (2024) Distinct role of der(1;7)(q10;p10) in myelodysplastic syndromes: diagnostic and treatment considerations – a case study. Journal of Biochemical and Clinical Genetics, Online First: 12 Jan, 2025. doi:10.24911/JBCGenetics.183-1723721178




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