Acute myeloid leukemia with recurrent genetic abnormalities
Acute Myeloid Leukemia with Recurrent Genetic Abnormalities
Acute Myeloid Leukemia (AML) with recurrent genetic abnormalities is a subtype of acute myeloid leukemia characterized by specific chromosomal translocations and genetic mutations. These genetic abnormalities are crucial for diagnosis, prognosis, and treatment strategies.
Overview[edit | edit source]
Acute Myeloid Leukemia is a cancer of the blood and bone marrow characterized by an overproduction of immature white blood cells, known as myeloblasts. AML with recurrent genetic abnormalities is classified based on specific genetic changes that are consistently observed in patients.
Genetic Abnormalities[edit | edit source]
The World Health Organization (WHO) classification of AML includes several subtypes based on recurrent genetic abnormalities:
- t(8;21)(q22;q22); RUNX1-RUNX1T1: This translocation involves the RUNX1 gene on chromosome 21 and the RUNX1T1 gene on chromosome 8. It is associated with a favorable prognosis and is more common in younger patients.
- inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11: This inversion or translocation involves the CBFB and MYH11 genes. It is associated with a favorable prognosis and often presents with eosinophilia.
- t(15;17)(q24;q21); PML-RARA: This translocation is characteristic of acute promyelocytic leukemia (APL), a distinct subtype of AML. It is associated with a high risk of bleeding but responds well to treatment with all-trans retinoic acid (ATRA) and arsenic trioxide.
- t(9;11)(p21.3;q23.3); KMT2A-MLLT3: This translocation involves the KMT2A (formerly MLL) gene and is associated with an intermediate prognosis. It is more common in pediatric cases.
Diagnosis[edit | edit source]
Diagnosis of AML with recurrent genetic abnormalities involves a combination of morphological assessment, immunophenotyping, cytogenetic analysis, and molecular testing. Identifying specific genetic abnormalities is crucial for classification and treatment planning.
Prognosis[edit | edit source]
The prognosis of AML with recurrent genetic abnormalities varies depending on the specific genetic changes. Generally, translocations such as t(8;21) and inv(16) are associated with a favorable prognosis, while others like t(9;11) have an intermediate prognosis.
Treatment[edit | edit source]
Treatment strategies for AML with recurrent genetic abnormalities are tailored based on the specific genetic changes. Standard treatment includes chemotherapy, and in some cases, targeted therapies are used. For example, APL with t(15;17) is treated with ATRA and arsenic trioxide.
Research and Future Directions[edit | edit source]
Ongoing research is focused on understanding the molecular mechanisms underlying these genetic abnormalities and developing targeted therapies. Advances in genomic technologies continue to improve the classification and treatment of AML.
Also see[edit | edit source]
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Contributors: Prab R. Tumpati, MD
