A rare BCR-ABL1 transcript in chronic myeloid leukemia: Case report and literature review

Leuk Res. 2023 Oct:133:107369. doi: 10.1016/j.leukres.2023.107369. Epub 2023 Aug 8.

Abstract

Background: The purpose of this report is to enhance our scientific understanding of the clinicopathologic features of chronic myeloid leukemia (CML) with the e12a3 transcript and to provide insights into potential treatment options for this rare subtype of CML.

Case summary: We present the case of a 21-year-old Chinese male patient who was diagnosed with chronic myeloid leukemia (CML) with the e12a3 transcript. Biopsy of his left iliac soft tissue mass indicated that he was in the blast crisis phase of CML. The patient was treated with tyrosine kinase inhibitor (TKI) drugs and achieved remission, but relapsed soon after. Despite receiving prognostic chemotherapy, the disease progressed and eventually led to the patient's death.

Conclusion: To avoid missed diagnosis and misdiagnosis, it is recommended to conduct a thorough clinical evaluation and actively identify the underlying etiology.

Keywords: Atypical transcripts; BCR-ABL1 e12a3; Chronic myelogenous leukemia; Literature review.

Publication types

  • Case Reports
  • Review
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Blast Crisis / drug therapy
  • Blast Crisis / genetics
  • Fusion Proteins, bcr-abl* / genetics
  • Humans
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / diagnosis
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / drug therapy
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive* / genetics
  • Male
  • Prognosis
  • Protein Kinase Inhibitors
  • Young Adult

Substances

  • Fusion Proteins, bcr-abl
  • Protein Kinase Inhibitors