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Acute monoblastic leukemia with abnormal eosinophils and inversion (16): A rare entity
Kiruthiga Kala Gnanasekaran, Mary P Chacko1, Marie Therese Manipadam
1Department of Transfusion Medicine and Immunohematology, Christian Medical College, Vellore, Tamil Nadu, India.
Abstract:
Acute myeloid leukemia (AML) is a malignant hematopoietic stem cell disorder which is sub-classified based on bone marrow morphology and the presence of specific genetic abnormalities. One such cytogenetic abnormality is the pericentric inversion (inv) of chromosome 16 which is typically seen in AML M4 with eosinophilia and is associated with a favorable prognosis. We report the inv (16) in a young woman with AML M5 and abnormal eosinophils. This is a rare entity with only about 20 cases being reported till date.
Insights
A rare case of acute myeloid leukemia (AML) subtype M5 with an inversion (inv) of chromosome 16, typically seen in AML M4, was identified in a young woman. This unusual finding highlights the diverse genetic landscape of AML.
Area of Science:
- Hematology
- Cytogenetics
- Oncology
Background:
- Acute myeloid leukemia (AML) is a heterogeneous stem cell malignancy.
- Classification relies on morphology and genetic markers.
- Pericentric inversion of chromosome 16 (inv(16)) is a known cytogenetic abnormality in AML.
Observation:
- The inv(16) is typically associated with AML M4 subtype and eosinophilia.
- This genetic abnormality usually indicates a favorable prognosis.
- A rare instance of inv(16) was observed in a patient with AML M5.
Findings:
- The study reports a unique case of AML M5 presenting with inv(16).
- Abnormal eosinophils were noted in conjunction with this rare genetic finding.
- This represents one of approximately 20 reported cases globally.
Implications:
- This case expands the known spectrum of genetic abnormalities in AML M5.
- It challenges the typical association of inv(16) solely with AML M4.
- Further research is needed to understand the prognostic significance of inv(16) in AML M5.
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