core binding factor acute myeloid leukemia

Core-binding factor (CBF) acute myeloid leukemia (AML) is a subtype of AML that accounts for approximately 12-15% of all AML cases [2][5]. It is characterized by the presence of specific cytogenetic abnormalities, including inv(16)(p13.1q22) and t(8;21)(q22;q22.1), which result in the formation of fusion transcripts that are diagnostic for this subtype [1].

CBF AML is a distinct entity within the spectrum of AML, with its own unique clinical and biological features [3][6]. The disease is often associated with a relatively favorable prognosis compared to other subtypes of AML, although outcomes can vary depending on various factors such as age, performance status, and molecular characteristics [4].

The core-binding factor protein complex plays a crucial role in the transcriptional regulation of normal hematopoiesis, and its dysregulation is thought to contribute to the development of CBF AML [7][8]. The disease is often characterized by the presence of specific genetic mutations, including those affecting the RUNX1/RUNX1T1 and CBFB/MYH11 genes [9].

Overall, core-binding factor acute myeloid leukemia is a distinct subtype of AML with its own unique characteristics, and its diagnosis and management require specialized knowledge and expertise.

References: [1] Sangle et al. (2011) - These 2 subtypes are categorized as AML with recurrent genetic abnormalities, and hence the cytogenetic fusion transcripts are considered diagnostic of acute ... [2] Borthakur et al. (2021) - Core-binding factor (CBF) acute myeloid leukemia (AML), comprising up to 12–15% of all AML cases [1,2,3,4,5], is characterized by the presence ... [3] Sinha et al. (2015) - Core binding factor leukemias are among the most frequent cytogenetic subtypes and comprise approximately 15% of all adult acute myeloid leukemias. [4] Jahn et al. (2020) - Core-binding factor (CBF) acute myeloid leukemia (AML) encompasses AML with inv(16)(p13.1q22) and AML with t(8;21)(q22;q22.1). Despite sharing a ... [5] Darwish et al. (2023) - Core binding factor acute myeloid leukemia (CBF AML) is defined by cytogenetic abnormalities either due to translocation (8;21) (q22;q22.1) or inversion ... [6] Paschka et al. (2013) - Acute myeloid leukemia (AML) with t(8;21) or inv(16) is commonly referred to as core-binding factor AML (CBF-AML). [7] Quan et al. (2020) - Core binding factor (CBF) is a heterodimer protein complex involved in the transcriptional regulation of normal hematopoietic process. [8] Kayser et al. (2022) - Core binding factor acute myeloid leukemia (CBFAML) is defined by the presence of either t(8;21)(q22;q22)/ RUNX1/RUNX1T1 or inv(16) (p13.1q22)/t(16;16) (p13.1; ...

Core binding factor acute myeloid leukemia (CBF AML) is a type of cancer that affects the blood and bone marrow. While it's a serious condition, there are some common signs and symptoms to look out for.

Common symptoms:

• Fever [8]
• Shortness of breath [8]
• Easy bruising or bleeding [8]
• Petechiae, which are tiny red spots on the skin caused by small blood vessels breaking [8]

Other possible symptoms:

• Swelling of the gums due to infiltration of leukemic cells into the gum tissue (rarely the first sign) [9]
• Involvement of cervical lymph nodes and tonsils may be a negative prognostic sign [7]

It's essential to note that these symptoms can also be caused by other conditions, so if you're experiencing any of them, it's crucial to consult with a healthcare professional for an accurate diagnosis.

References:

[8] - Symptoms of acute myeloid leukemia (AML) | MD Anderson Cancer Center [9] - Some patients with AML may experience swelling of the gums because of infiltration of leukemic cells into the gum tissue. Rarely, the first sign... | PubMed

Core Binding Factor (CBF) Acute Myeloid Leukemia (AML) can be diagnosed through various molecular and cytogenetic tests.

• Molecular Testing: The presence of specific fusion transcripts, such as RUNX1-RUNX1T1 and CBFB-MYH11, can be detected using polymerase chain reaction (PCR)-based methods [9]. These tests are highly sensitive and specific for diagnosing CBF-AML.
• Cytogenetic Analysis: Chromosomal analysis can reveal the characteristic translocations t(8;21) or inv(16), which are diagnostic of CBF-AML [6].
• Quantitative Monitoring of Measurable Residual Disease (MRD): MRD-based decision making is also used in CBF AML, where the presence of unique transcripts allows for monitoring and management of the disease [4].

These diagnostic tests play a crucial role in identifying patients with CBF-AML, which can then inform treatment decisions.

References:

[6] Acute myeloid leukemia (AML) with t(8;21) or inv(16) have been recognized as unique entities within AML and are usually reported together as core binding factor acute myeloid leukemia. [4] Quantitative monitoring of measurable residual disease in CBF AML and MRD-based decision making. The presence of unique transcripts allows for monitoring and management of the disease. [9] by N Jahn · 2020 · Cited by 68 — The diagnosis of CBF-AML was confirmed by polymerase chain reaction-based detection of RUNX1-RUNX1T1 and CBFB-MYH11 fusion gene transcripts ...

Treatment Options for Core Binding Factor Acute Myeloid Leukemia (CBF-AML)

Core binding factor acute myeloid leukemia (CBF-AML) is a subtype of acute myeloid leukemia (AML) characterized by the presence of specific chromosomal abnormalities. The treatment of CBF-AML typically involves intensive chemotherapy, with or without targeted therapies.

Chemotherapy

• Cytarabine-based regimens: Cytarabine (Ara-C) is a cornerstone in the treatment of AML, including CBF-AML. Regimens such as "7+3" (cytarabine 100-200 mg/m² for 7 days + an anthracycline for 3 days) have been used for decades and remain effective [6].
• High-dose cytarabine: High-dose cytarabine (HDAC) has been shown to improve outcomes in CBF-AML, particularly when used as consolidation therapy after remission induction [7].

Targeted Therapies

• Gemtuzumab ozogamicin (GO): GO is a CD33-targeting antibody-drug conjugate that has been added to intensive chemotherapy regimens for CBF-AML. Studies have shown improved outcomes with the addition of GO, particularly in younger patients [9].
• Fludarabine and cytarabine: The FLAG regimen (fludarabine, cytarabine, G-CSF) has been used as a frontline treatment for CBF-AML, often in combination with GO.

Other Treatment Considerations

• Risk stratification: Risk factors such as age, white blood cell count, and cytogenetic abnormalities can help guide treatment decisions.
• Post-remission therapy: Consolidation therapy with HDAC or other agents may be considered to improve outcomes after remission induction.

It's essential to note that the optimal treatment approach for CBF-AML is still evolving, and individualized treatment plans should be developed based on patient-specific factors.

Core-binding factor (CBF) acute myeloid leukemia (AML) is a subtype of AML characterized by the presence of specific chromosomal abnormalities, including inv(16)/t(16;16) or t(8;21). To determine the differential diagnosis for CBF-AML, it's essential to consider other subtypes of AML that may present with similar clinical and laboratory features.

Differential Diagnosis:

• Acute Promyelocytic Leukemia (APL): This subtype of AML is characterized by the presence of t(15;17) translocation. While APL can be distinguished from CBF-AML based on specific molecular and cytogenetic findings, it's crucial to consider this differential diagnosis in patients presenting with similar clinical features.
• Acute Myelomonocytic Leukemia (AMML): This subtype of AML is characterized by the presence of monocytic differentiation. While AMML can be distinguished from CBF-AML based on specific immunophenotypic and molecular findings, it's essential to consider this differential diagnosis in patients presenting with similar clinical features.
• Acute Erythroid Leukemia (AEL): This subtype of AML is characterized by the presence of erythroid differentiation. While AEL can be distinguished from CBF-AML based on specific immunophenotypic and molecular findings, it's crucial to consider this differential diagnosis in patients presenting with similar clinical features.

Key Features for Differential Diagnosis:

• Cytogenetic abnormalities: The presence of inv(16)/t(16;16) or t(8;21) translocations is diagnostic for CBF-AML. However, other subtypes of AML may also present with specific cytogenetic abnormalities that can aid in differential diagnosis.
• Immunophenotypic features: Patients with CBF-AML may exhibit specific immunophenotypic features, such as the presence of CD34 and CD117 expression. These features can be used to distinguish CBF-AML from other subtypes of AML.
• Molecular findings: The presence of specific molecular abnormalities, such as NPM1 mutations, can aid in differential diagnosis between CBF-AML and other subtypes of AML.

References:

• [6] Core-binding factor (CBF) AML includes AML with t(8;21) (q22;q22) and AML with inv(16)(p13q22) or t(8;21)(p13;q22) chromosomal rearrangements.
• [5] Core-binding factor acute myeloid leukemia (CBF-AML) is characterized by the presence of inv(16)/t(16;16) or t(8;21).
• [10] Well-characterized chromosomal translocations, such as t(8:21) in core-binding factor AML (CBF-AML) or t(15:17) in acute promyelocytic leukemia.
• [9] Core-binding factor acute myeloid leukemia (CBF-AML) is characterized by the presence of inv(16)/t(16;16) or t(8;21) and is classified as a distinct entity within the AML spectrum.