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.

Laboratory Medicine
|November 2, 2021
PubMed

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.