Related Experiment Video
Updated: Nov 17, 2025
Murine Model of Leukemia Relapse to Induction Chemotherapy for Acute Lymphoblastic Leukemia
Published on: October 17, 2025
Mixed phenotype acute leukemia with PML-RARα positive: a case report and literature review
Xiaolong Zheng1, Huafei Shen1, Mingyu Zhu1
1Department of Hematology, The First Affiliated Hospital, Zhejiang University School of Medicine, #79 Qingchun Road, Hangzhou, 310003, Zhejiang Province, People's Republic of China.
Abstract:
Mixed phenotype acute leukemia (MPAL) is an uncommon type of leukemia. It is one kind of malignant clonal diseases that expresses more than one genealogical specific antigen simultaneously. Most MPAL patients are associated with clonal chromosomal abnormalities and molecular genetic changes, such as t(9;22) (q34;q11) and KMT2A (MLL) rearrangement. These specific abnormalities usually have important guiding significance in MPAL diagnosis, targeted therapy and prognosis judgment. In this paper, we reported a case of MPAL, T/myeloid (M5) with an unfrequent combination of PML-RARα positivity and t(15;17). The treatment was successful with chemotherapy for both AML and ALL with daunorubicin, cytarabine (DA) and vincristine, prednisone (VP). We reported here this suggestive MPAL case of rare disease condition and effective treatment, in order to provide experience for the early diagnosis and treatment of similar patients.
Insights
This case report details a rare Mixed Phenotype Acute Leukemia (MPAL) with T/myeloid features, PML-RARα positivity, and t(15;17). Effective chemotherapy treatment using daunorubicin, cytarabine (DA), and vincristine, prednisone (VP) was achieved.
Area of Science:
- Hematology
- Oncology
- Molecular Genetics
Background:
- Mixed Phenotype Acute Leukemia (MPAL) is a rare hematologic malignancy characterized by simultaneous expression of myeloid and lymphoid lineage antigens.
- MPAL often presents with complex chromosomal abnormalities and molecular genetic alterations, influencing diagnosis, treatment, and prognosis.
- Specific genetic aberrations like t(9;22) and KMT2A rearrangements are frequently observed in MPAL.
Purpose of the Study:
- To report a unique case of MPAL with T/myeloid (M5) phenotype.
- To highlight the uncommon co-occurrence of PML-RARα positivity and t(15;17) in MPAL.
- To share insights into an effective treatment strategy for this rare MPAL subtype.
Main Methods:
- Case study reporting a patient diagnosed with MPAL.
- Immunophenotypic analysis to determine lineage co-expression.
- Cytogenetic and molecular studies, including FISH for t(15;17) and PML-RARα detection.
- Treatment administered included daunorubicin, cytarabine (DA) for AML, and vincristine, prednisone (VP) for ALL components.
Main Results:
- A case of MPAL, T/myeloid (M5) was identified.
- The patient exhibited an unusual combination of PML-RARα positivity and the t(15;17) chromosomal translocation.
- Successful treatment outcomes were achieved using a combined chemotherapy regimen (DA and VP).
Conclusions:
- This case underscores the phenotypic and genotypic diversity of MPAL.
- The presence of PML-RARα and t(15;17) in MPAL, though rare, can be effectively managed with tailored chemotherapy.
- Reporting such rare presentations provides valuable experience for the early diagnosis and treatment of similar complex leukemia cases.
