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Published on: July 5, 2019
A case report of mixed-phenotype acute leukemia with atypical BCR::ABL1 e13a3 fusion gene
Yan Zhou1, Mei Liu1, Yunlu Zhao1,2
1Department of Clinical Laboratory, The Second Hospital of Hebei Medical University, Shijiazhuang, P.R. China.
Rationale:
Mixed-phenotype acute leukemia (MPAL) is a type of acute leukemia which is characterized by immunophenotypic features of myeloid, T-lymphoid, and/or B-lymphoid differentiation. The Philadelphia chromosome-positive (Ph+) MPAL, a rare subtype of MPAL, represents <1% of adult acute leukemia cases and typically has a poor prognosis. Here we report a very unique case of MPAL with Ph + atypical e13a3 breakpoint cluster region (BCR)::ABL1 fusion protein and provide new perspectives on the diagnosis and management of Ph + MPAL.
Patient Concerns:
We present a 64-year-old male who experienced high-grade fever, nasal congestion, and a runny nose 20 days after contracting a cold. A chest computed tomography revealed double pneumonia. The patient was presented with an anemic appearance, scattered bleeding spots, and ecchymoses, with no superficial lymph nodes palpable.
Diagnoses:
The patient was diagnosed as MPAL with atypical e13a3 BCR::ABL1 transcripts by morphology, flow cytometry, cytogenetic and molecular biology analyses.
Interventions:
The patient was treated with a combination therapy of VCD (Bortezomib, Cyclophosphamide, Dexamethasone), Venetoclax, and Dasatinib, supplemented with liver protection, immune modulation, and supportive care.
Outcomes:
He achieved remission after 2 lines of therapy but subsequently experienced a sudden relapse 3 months later.
Lessons:
At present, there is no established consensus on the treatment of Ph + MPAL, and reports on cases with the atypical e13a3 BCR::ABL1 fusion are particularly scarce. This finding will bring new insights and references for the diagnosis and treatment of Ph + MPAL.
Insights
This case study details a rare Philadelphia chromosome-positive (Ph+) mixed-phenotype acute leukemia (MPAL) with an atypical BCR::ABL1 fusion. The findings offer new insights into diagnosing and managing this challenging leukemia subtype.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- Mixed-phenotype acute leukemia (MPAL) exhibits myeloid and lymphoid differentiation features.
- Philadelphia chromosome-positive (Ph+) MPAL is a rare subtype with a poor prognosis, accounting for less than 1% of adult acute leukemia cases.
Purpose of the Study:
- To report a unique case of MPAL with Ph+ atypical e13a3 BCR::ABL1 fusion.
- To provide new perspectives on the diagnosis and management of Ph+ MPAL.
Main Methods:
- A 64-year-old male presented with symptoms suggestive of leukemia, including fever and bleeding.
- Diagnosis of MPAL with atypical e13a3 BCR::ABL1 transcripts was confirmed through morphology, flow cytometry, cytogenetics, and molecular analyses.
- Treatment involved a combination of VCD, Venetoclax, and Dasatinib, alongside supportive care.
Main Results:
- The patient achieved remission after two lines of therapy.
- A relapse occurred three months later, highlighting treatment challenges.
Conclusions:
- There is no established treatment consensus for Ph+ MPAL, especially with atypical BCR::ABL1 fusions.
- This case provides valuable insights for the diagnosis and treatment of rare Ph+ MPAL subtypes.
