Rare Atypical Ela3 BCR-ABL transcript in acute Lymphoblastic Leukemia: a case report.
Lingling Xu1, Tingting Han2, Shuning Wei3
1Department of Hematology, Yantai Yuhuangding Hospital Affiliated to Qingdao University, Yantai, China.
African Health Sciences
|August 21, 2025
Summary
Philadelphia chromosome-positive acute lymphoblastic leukemia with rare ela3 transcripts presents unique challenges. This case highlights the need for early consideration of advanced therapies like third-generation tyrosine-kinase inhibitors and stem cell transplantation.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph+ ALL) typically involves ela2 BCR-ABL transcripts.
- Atypical fusion genes, such as ela3, are rarely reported in Ph+ ALL.
Observation:
- A rare case of Ph+ ALL with an ela3 fusion transcript was observed.
- The patient presented with a complex karyotype and initially responded to imatinib and dasatinib.
Findings:
- Relapse occurred six months post-diagnosis, with detection of E255v and T315I mutations in the ABL kinase region.
- Despite treatment with ponatinib, allogeneic hematopoietic stem cell transplantation, CAR T-cell immunotherapy, and olverembatinib, minimal residual disease increased.
Implications:
- This subgroup of Ph+ ALL may have a poorer prognosis compared to those with common transcripts.
- Early consideration of third-generation tyrosine-kinase inhibitors, allogeneic stem cell transplantation, or immunotherapy is recommended.
- Further clinical trials are warranted to optimize treatment strategies for this rare subtype.
