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Acute Myeloid Leukemia with Concurrent Inversion 16 and Trisomy 9: A Case Report
Ambreen Aman1, Kavitha B Lingappa1, Deepika G Sujatha1
1Cytogenetics Unit, Department of Pathology, Kidwai Memorial Institute of Oncology, Bangalore, Karnataka, India.
Journal of Laboratory Physicians
|April 17, 2023
Summary
This study reports the first known case of de novo acute myeloid leukemia (AML) with both inversion(16) and trisomy 9. This rare genetic combination in AML offers new insights into hematological malignancies.
Area of Science:
- Hematology
- Oncology
- Cytogenetics
Background:
- Acute myeloid leukemia (AML) encompasses diverse subtypes classified by the World Health Organization (WHO) based on genetic abnormalities.
- Recurrent genetic alterations significantly impact AML's clinical behavior and prognosis.
- Specific chromosomal abnormalities like inversion(16) and trisomy 9 have known prognostic implications.
Observation:
- A 36-year-old female presented with AML-M4, confirmed by peripheral smear and bone marrow examination.
- Cytogenetic analysis revealed the concurrent presence of inversion(16)(p13q22) and trisomy 9.
Findings:
- This case represents the first documented instance of de novo AML exhibiting both inv(16) and trisomy 9 simultaneously.
- Inversion(16) is typically associated with a favorable prognosis, while trisomy 9 suggests intermediate risk.
Implications:
- The simultaneous occurrence of these genetic abnormalities in AML challenges existing prognostic models.
- Further research is needed to understand the clinical and therapeutic impact of this rare genetic combination.
- This case highlights the importance of comprehensive cytogenetic analysis in AML diagnosis and management.
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