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.

Highlights

  • With the development of cytogenetics and molecular biology, researchers have gradually strengthened their understanding of acute leukemia (AL)

  • According to its basic immunophenotype, AL is usually classified as acute myeloid leukemia (AML), acute B lymphoid leukemia (B-ALL), and acute T lymphoid leukemia (T-ALL)

  • Based on the updated World Health Organization (WHO) classification of hematological malignancies, Mixed phenotype acute leukemia (MPAL) can be divided into several subtypes including MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1, MPAL with t(v;11q23.3); KMT2A rearranged, MPAL, B/myeloid, not otherwise specified (NOS) and MPAL, T/myeloid, NOS [3]

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Summary

Introduction

With the development of cytogenetics and molecular biology, researchers have gradually strengthened their understanding of acute leukemia (AL). Morphology, immunology, cytogenetics, and molecular biology (MICM) are widely used in the world, which is of great significance to study the pathogenesis and biological characteristics of leukemia, and of practical value to guide clinical treatment and prognosis judgment. Zheng et al Mol Cytogenet (2021) 14:10 controversial on whether MPAL should be treated with a single chemotherapy or combined with chemotherapy for both lymphoid and myeloid leukemia, and whether bone marrow or peripheral blood stem cell transplantation is required. Cell and molecular genetic abnormalities such as chromosomal translocations and gene mutations can be detected in most MPAL patients, which are of great significance for guiding the treatment and prognosis of MPAL patients [2, 4].

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