Journal of Leukemia
Open Access

Role of Molecular Biomarkers in Risk Stratification and Targeted Therapy of Acute Leukemia

Alexander Scholz^{* *}Correspondence: Alexander Scholz, Department of Immuno-Oncology, University of Helsinki, Helsinki, Finland, Email:

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Description

Acute leukemia represents one of the most aggressive forms of hematologic malignancy, arising from the uncontrolled proliferation of immature white blood cells known as blasts within the bone marrow. Acute leukemia encompasses two main types Acute Myeloid Leukemia (AML) and Acute Lymphoblastic Leukemia (ALL). Both are characterized by the malignant transformation of precursor cells at different stages of hematopoietic differentiation. In AML, the myeloid progenitor cells that normally develop into red cells, platelets and granulocytes fail to mature and instead accumulate as blasts in the marrow.

Thrombocytopenia, the reduction in platelet count, gives rise to bleeding tendencies that range from mild bruising to life-threatening hemorrhages. Petechiae tiny red or purple spots on the skin are often among the first visible signs. Other manifestations include nosebleeds, bleeding gums, and prolonged bleeding from minor cuts. In severe cases, internal bleeding can occur, particularly in the gastrointestinal tract or central nervous system. Because these symptoms can overlap with those of other nonmalignant hematological disorders, they are sometimes underestimated, particularly in early stages when blast counts may not yet be strikingly high in peripheral blood.

Neutropenia, or the deficiency of functional white blood cells, predisposes patients to recurrent or persistent infections. Fever, sore throat, mouth ulcers, and respiratory infections are frequent presentations. Unlike infections in healthy individuals, those in leukemic patients may progress rapidly and fail to respond to conventional antibiotic therapy. Fever of unknown origin is often the first clinical clue to bone marrow infiltration. Some patients may also experience systemic symptoms such as night sweats, weight loss, and loss of appetite features that are nonspecific but should prompt further investigation when combined with hematologic abnormalities.

Beyond the manifestations of marrow failure, acute leukemia frequently extends its effects to other organs and tissues. Hepatosplenomegaly enlargement of the liver and spleen is common due to leukemic infiltration or extramedullary hematopoiesis. Lymphadenopathy, particularly in ALL, may be generalized or localized, and can be mistaken for infectious or autoimmune causes. Bone pain and tenderness, especially in the long bones, are prominent in children and result from the rapid expansion of marrow cavities filled with leukemic blasts. Gingival hypertrophy, caused by infiltration of leukemic cells into the gums, is a classic but less common sign, often seen in monocytic subtypes of AML.

Infiltration of the Central Nervous System (CNS) or meninges can lead to neurological symptoms such as headache, vomiting, visual disturbances, or cranial nerve palsies. This is more frequent in ALL but can also occur in AML, particularly in patients with high white cell counts. Leukostasis a condition caused by excessive circulating blasts leading to blood viscosity and microvascular obstruction can produce acute respiratory distress, visual impairment, or stroke-like symptoms. Such presentations are medical emergencies and require immediate cytoreductive treatment to prevent fatal complications.

Cytogenetic and molecular studies play an increasingly central role not only in confirming diagnosis but also in risk stratification and treatment planning. The identification of specific chromosomal translocations such as t(15;17) in acute promyelocytic leukemia or t(9;22) in Philadelphia chromosome-positive ALL provides valuable prognostic and therapeutic guidance. These molecular signatures have led to the development of targeted therapies that can induce remission without the toxicity of traditional chemotherapy. Detecting such abnormalities early can mean the difference between life and death, as exemplified by the success of All-Trans Retinoic Acid (ATRA) therapy in treating acute promyelocytic leukemia when diagnosed promptly.