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Acute Promyelocytic Leukemia with a BCR-ABL1 Rearrangement in a Minor Clone
Yonggeun Cho1, Jungwon Hyun2, Miyoung Kim3
1Department of Laboratory Medicine, Hallym University Sacred Heart Hospital, Hallym University College of Medicine, Anyang, Republic of Korea.
Abstract:
Acute promyelocytic leukemia (APL) is a type of acute myeloid leukemia characterized by predominating abnormal promyelocytes with a PML-RARA rearrangement or a variant thereof. BCR-ABL1 rearrangement is an oncogenic event that is usually associated with chronic myeloid leukemia but also occurs in both acute lymphoblastic and acute myeloid leukemias and in healthy individuals. However, APL with concurrent PML-RARA and BCR-ABL1 rearrangements has rarely been reported. Herein, we describe a patient with APL exhibiting a BCR-ABL1 rearrangement in a minor clone and discuss the importance of evaluating this genetic alteration in terms of pathogenesis and treatment.
Insights
Acute promyelocytic leukemia (APL) rarely presents with concurrent BCR-ABL1 rearrangements. This case highlights the importance of detecting minor clones for accurate APL diagnosis and treatment planning.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Acute promyelocytic leukemia (APL) is a distinct subtype of acute myeloid leukemia defined by the PML-RARA genetic rearrangement.
- BCR-ABL1 rearrangement is typically associated with chronic myeloid leukemia but can be found in other hematologic malignancies.
Observation:
- This report details a rare case of APL in a patient who also exhibited a BCR-ABL1 rearrangement within a minor clone.
- The presence of the BCR-ABL1 rearrangement was identified alongside the characteristic PML-RARA rearrangement in APL.
Findings:
- The study identified a concurrent BCR-ABL1 rearrangement in a minor clone within a patient diagnosed with APL.
- This finding suggests that genetic complexity, including the presence of BCR-ABL1, can occur in APL.
Implications:
- Detecting concurrent genetic alterations like BCR-ABL1 in APL is crucial for understanding disease pathogenesis.
- Comprehensive genetic analysis, including evaluation for minor clones, may impact therapeutic strategies and patient outcomes in APL.
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