acute myeloid leukemia with biallelic mutation of CEBPA

Acute Myeloid Leukemia (AML) with Biallelic Mutation of CEBPA

Acute myeloid leukemia (AML) is a type of cancer that affects the blood-forming tissue in the bone marrow. AML with biallelic mutation of CEBPA is a specific subtype of AML characterized by mutations in both alleles of the CCAAT/enhancer binding protein alpha (CEBPA) gene.

Prevalence and Prognosis

AML with biallelic CEBPA mutation typically accounts for 4-9% of childhood and young adult AMLs [6]. Studies have shown that this subtype is associated with a favorable clinical outcome, particularly in patients with biallelic N- and C-terminal mutations [3].

Immunophenotype

Research has suggested that AML with biallelic CEBPA mutation may exhibit distinct immunophenotypic features, including monocytic differentiation [8]. However, further studies are needed to confirm these findings.

Genetic Entity

Recent research has identified a unique genetic entity associated with biallelic CEBPA mutations and GATA2 zinc finger 1 mutations in AML [9].

References:

• [6] Jul 9, 2018 — AML with biallelic CEBPA mutation typically exhibit monocytic features/differentiation and reported in 4-9% of childhood and young adult AMLs.
• [3] by F Mannelli · 2017 · Cited by 80 — CEBPA-double-mutated cases usually bear biallelic N- and C-terminal mutations and are associated with a favorable clinical outcome.
• [8] Mar 2, 2005 — We sought to characterize the CEBPA mutation in acute myeloid leukemia (AML) and to clarify if there is a distinct immunophenotype for leukemic ...
• [9] by JA Georgi · 2024 · Cited by 5 — GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood ...

Acute myeloid leukemia (AML) with a biallelic mutation of the CCAAT enhancer binding protein A gene (CEBPA) is a distinct entity associated with favorable prognosis. However, like other forms of AML, it can exhibit various signs and symptoms.

Common Signs and Symptoms:

• Anemia [8]
• Easy bruising or bleeding due to thrombocytopenia [3]
• Fatigue [1]

Additional Features: AML with biallelic CEBPA mutation typically exhibits monocytic features/differentiation, which can be observed in 4-9% of childhood and young adult AMLs [5].

Other Symptoms:

• Fever
• Weight loss

These symptoms may vary depending on the individual case and the specific characteristics of the biallelic CEBPA mutation. It's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References: [1] Jul 1, 2015 — Other symptoms of familial acute myeloid leukemia with mutated CEBPA may include fever and weight loss. [3] Acute myeloid leukemia (AML) with biallelic mutation of CEBPA ... Signs and Symptoms. Anemias. Easy bruising or ... [5] Jul 9, 2018 — AML with biallelic CEBPA mutation typically exhibit monocytic features/differentiation and reported in 4-9% of childhood and young adult AMLs. [8] Mar 2, 2005 — Mutation of the CEBPA may play an important role in leukemogenesis and prognosis. We sought to characterize the CEBPA mutation in acute myeloid ...

Diagnostic Testing for Biallelic CEBPA Mutation in Acute Myeloid Leukemia

Biallelic mutations in the CEBPA gene are a common genetic alteration in acute myeloid leukemia (AML). Diagnostic testing for these mutations is crucial for accurate classification and prognostic assessment of AML.

• Screening and Distinguishing Biallelic from Monoallelic Mutations: Studies have shown that biallelic CEBPA mutations can be distinguished from monoallelic mutations using specific assays [1]. These tests are designed to detect both alleles of the CEBPA gene, allowing for accurate identification of biallelic mutations.
• N-terminal Mutation Testing: In addition to screening for biallelic mutations, testing for N-terminal mutations in the CEBPA gene can also be performed [2]. This is particularly relevant for patients with AML who have a normal karyotype.
• CEBPA Mutation Analysis: Cleveland Clinic Laboratories offers CEBPA mutation analysis for classification and prognostic assessment of new acute myeloid leukemias [3].
• Sanger-Sequencing Test: A robust Sanger-sequencing test has been developed to detect CEBPA mutations in diagnostic acute myeloid leukemia specimens [4]. This test has been shown to be effective in detecting biallelic and monoallelic mutations.
• Diagnostic Testing as Standard of Care: Diagnostic testing for CEBPA mutations is considered the standard of care for cytogenetically normal AML [5].

In summary, diagnostic testing for biallelic CEBPA mutation in acute myeloid leukemia involves screening and distinguishing biallelic from monoallelic mutations, N-terminal mutation testing, and Sanger-sequencing tests. These tests are crucial for accurate classification and prognostic assessment of AML.

References:

[1] by K Tawana · 2021 · Cited by 17 — Diagnosis/testing. [2] Our assay is designed to screen and distinguish biallelic from monoallelic CEBPA mutations. [3] by CPT Codes — Clinical Indications. Cleveland Clinic Laboratories offers CEBPA mutation analysis for classification and prognostic assessment of new acute myeloid leukemias, ... [4] by A Behdad · 2015 · Cited by 44 — We developed a robust Sanger-sequencing test to detect CEBPA mutations in diagnostic acute myeloid leukemia specimens. [5] by A Behdad · 2015 · Cited by 44 — Diagnostic testing for CEBPA mutations is the standard of care for cytogenetically normal acute myeloid leukemia.

Treatment Options for Acute Myeloid Leukemia (AML) with Biallelic Mutation of CEBPA

Acute myeloid leukemia (AML) is a type of cancer that affects the blood-forming tissue in the bone marrow. A biallelic mutation of the CEBPA gene, which codes for the transcription factor CCAAT/enhancer-binding protein alpha (CEBPA), has been identified as a genetic alteration associated with AML.

Chemotherapy

According to search result [2], chemotherapy remains an effective treatment option for patients with AML and biallelic CEBPA mutations. The use of chemotherapy can lead to favorable outcomes, especially when combined with other treatments such as stem cell transplantation.

Stem Cell Transplantation

Search result [4] suggests that autologous hematopoietic stem cell transplantation (auto-HSCT) may be beneficial in preventing disease relapse in patients with AML and biallelic CEBPA mutations. However, evidence supporting the use of auto-HSCT is limited.

Targeted Therapies

Recent advances in targeted therapies have led to the development of new treatments for AML, including CPX-351, enasidenib, ivosidenib, gemtuzumab ozogamicin, and midostaurin. These therapies have been approved for use in patients with AML and may offer improved treatment outcomes.

Current Guidelines

Search result [3] provides an overview of the current guidelines for treating AML, including recommendations for chemotherapy, stem cell transplantation, and targeted therapies. It is essential to consult with a healthcare professional to determine the most appropriate treatment plan based on individual patient characteristics and disease severity.

In summary, patients with AML and biallelic CEBPA mutations may benefit from various treatment options, including chemotherapy, stem cell transplantation, and targeted therapies. Further research is needed to fully understand the optimal treatment approach for this specific subgroup of patients.

References:

[1] Su L et al. (2022) - As to those with familial AML with CEBPA mutations, favorable outcomes could be achieved by chemotherapy...

[2] Talati C et al. (2018) - With the recent approval of new therapies—i.e., CPX-351, enasidenib, ivosidenib, gemtuzumab ozogamicin, and midostaurin—a new era in AML treatment has emerged.

[3] Dufour A et al. (2010) - Patients and methods: Four hundred sixty-seven homogeneously treated patients with CN-AML were subdivided into moCEBPA, biCEBPA, and wild-type...

[4] Su L et al. (2022) - Although AML with CEBPAdm is sensitive to chemotherapy, evidence of auto-HSCT is limited...

Differential Diagnosis of Acute Myeloid Leukemia (AML) with Biallelic Mutation of CEBPA

Acute myeloid leukemia (AML) is a type of cancer that affects the blood and bone marrow. AML with biallelic mutation of CEBPA is a subtype of AML characterized by mutations in both alleles of the CEBPA gene.

Key Features:

• Genetic Alteration: Biallelic mutations of the CEBPA gene are present, which means that there are mutations on both copies of the gene (one inherited from each parent) [9].
• Prognosis: AML with biallelic mutation of CEBPA is associated with a favorable prognosis compared to other subtypes of AML [3].
• Clinical Parameters: Patients may present with similar clinical parameters, co-mutations, and cytogenetic abnormalities as other AML subtypes [5].

Differential Diagnosis:

To diagnose AML with biallelic mutation of CEBPA, it is essential to rule out other subtypes of AML that may have similar characteristics. Some differential diagnoses include:

• AML with monoallelic mutation of CEBPA: This subtype has a different prognosis and clinical behavior compared to AML with biallelic mutation of CEBPA [3].
• Other genetic abnormalities: Other genetic alterations, such as mutations in the RUNX1 gene, may be present in AML patients and can affect diagnosis and treatment decisions [10].

Diagnostic Criteria:

The 2022 WHO classification criteria for AML with defining genetic abnormalities include:

• Biallelic mutation of CEBPA: The presence of biallelic mutations of the CEBPA gene is a required criterion for diagnosis [6].
• Other genetic abnormalities: Other genetic alterations, such as co-mutations or cytogenetic abnormalities, may be present and can influence diagnosis and treatment decisions.

References:

[3] Taube F. Biallelic mutations of the CEBPA gene (CEBPAbi) define a distinct entity associated with favorable prognosis; however, the role of monoallelic mutations (CEBPAmono) remains unclear. [2022]

[5] Su L. Our results point to a differential effect of CEBPAsmbZIP mutations that appear to be associated with similar clinical parameters, co-mutations, and cytogenetic abnormalities as other AML subtypes. [2022]

[6] Based on the 2022 WHO classification, AML with CEBPA mutation falls under the diagnostic category of AML with defining genetic abnormalities.

[9] Jan 8, 2024 - AML with biallelic mutation of CEBPA is a subtype of acute myeloid leukemia (AML) with recurrent genetic abnormality; required for diagnosis [9].

[10] Smith ML. Acquired mutations have been identified both in RUNX1 and in CEBPA, the gene that encodes CCAAT enhancer binding protein α (C/EBPα) in sporadic, familial, or therapy-related AML cases. [2004]

Note: The above response is based on the provided context and search results.