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Core binding factor acute myeloid leukemia
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia is a subtype of blood cancer characterized by the overproduction of abnormal, immature white blood cells. While it causes a severe shortage of mature blood cells, it generally carries a more favorable prognosis than other forms of acute myeloid leukemia.

Overview

Core binding factor acute myeloid leukemia (CBF-AML) is a specific form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In healthy bone marrow, early blood cells called hematopoietic stem cells develop into mature white blood cells (leukocytes), red blood cells (erythrocytes), and platelets (thrombocytes). In acute myeloid leukemia, the bone marrow produces large numbers of abnormal, immature white blood cells called myeloid blasts. These blasts develop into cancerous leukemia cells, interfering with the production of normal, functional blood cells.

While acute myeloid leukemia is typically a disease of older adults, CBF-AML often begins in young adulthood and can occur in childhood. CBF-AML has a relatively good prognosis compared to other forms of acute myeloid leukemia: approximately 90 percent of individuals with CBF-AML recover following treatment, compared to 25 to 40 percent for other forms. However, the disease recurs in about half of patients after successful initial treatment.

Symptoms

The overproduction of abnormal cells in CBF-AML leads to a shortage of mature, functional blood cells, causing the following symptoms:

  • A shortage of white blood cells (leukopenia), which increases susceptibility to infections.
  • A low number of red blood cells (anemia), causing fatigue and weakness.
  • A reduction in platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding.
  • Fever.
  • Weight loss.

Frequency

Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of all acute myeloid leukemia cases in adults.

Causes

CBF-AML is associated with specific chromosomal rearrangements between chromosome 8 and chromosome 21, or within chromosome 16. These rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes.

The RUNX1 and CBFB genes provide instructions for making the two parts of a protein complex called core binding factor (CBF). CBF attaches to DNA to turn on genes that control blood cell development (hematopoiesis). Rearrangements involving these genes alter CBF, leading to leukemia:

  • Translocation t(8;21): This rearrangement fuses part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 (also known as ETO) gene on chromosome 8. This produces the RUNX1-ETO fusion protein. While it can still form the CBF complex and bind to DNA, the fusion protein blocks gene activity instead of activating it.
  • Inversion inv(16) and Translocation t(16;16): These rearrangements involve chromosome 16 and fuse the CBFB and MYH11 genes, producing the CBFβ-MYH11 fusion protein. This fusion protein prevents CBF from binding to DNA or interacts with other proteins to block CBF from controlling gene activity.

The resulting impairment of CBF activity blocks the maturation of blood cells and leads to the production of abnormal myeloid blasts. However, these chromosomal rearrangements alone are typically not enough to cause leukemia; additional genetic changes are required to make the immature cells grow and divide uncontrollably.

Associated Genes and Chromosomes

  • CBFB
  • FLT3
  • KIT
  • KRAS
  • MYH11
  • NRAS
  • RUNX1
  • RUNX1T1
  • chromosome 16
  • chromosome 21
  • chromosome 8

Inheritance

CBF-AML is not inherited. It arises from somatic genetic rearrangements in the body's cells that occur after conception.

Other Names for This Condition

  • CBF acute myeloid leukemia
  • CBF-AML
  • Core-binding factor AML

Frequently Asked Questions

Diagnosis begins with a bone‑marrow aspirate showing ≥20 % myeloid blasts. Flow cytometry identifies the immunophenotype, and cytogenetic or molecular testing looks for the hallmark translocations t(8;21)(q22;q22) creating RUNX1‑RUNX1T1 or inv(16)/t(16;16) producing CBFB‑MYH11. These genetic markers define CBF‑AML and guide therapy.
rising blast count on routine marrow exams, re‑appearance of cytogenetic abnormalities, or new cytopenias (fatigue, infections, bruising) are red flags. Many centers monitor peripheral blood counts weekly for the first 3 months, then monthly, and perform bone‑marrow assessments at 3, 6, and 12 months or sooner if symptoms arise.
Transplant is generally reserved for patients who relapse after standard chemotherapy, those with persistent measurable residual disease after consolidation, or individuals with high‑risk features such as additional adverse mutations (e.g., KIT). In first remission, most CBF‑AML patients achieve durable cures with chemotherapy alone, so transplant is not routine.
Most patients receive “7 + 3” induction (cytarabine continuous infusion for 7 days plus an anthracycline for 3 days). Because CBF‑AML responds well to high‑dose cytarabine, consolidation usually involves multiple cycles of high‑dose cytarabine (HiDAC) rather than the broader‑spectrum regimens used for adverse‑risk AML. Targeted agents such as gemtuzumab ozogamicin may be added, especially when minimal residual disease is detected.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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