acute myeloid leukemia with myelodysplasia-related changes

Acute Myeloid Leukemia with Myelodysplasia-Related Changes (AML-MRC): An Overview

Acute myeloid leukemia with myelodysplasia-related changes, also known as AML-MRC, is a type of cancer that affects the blood. It is characterized by the presence of myelodysplastic changes and is considered a distinct biologic subtype of acute myeloid leukemia (AML) [3].

Key Features

• Age: AML-MRC usually occurs in older adults [1].
• Prognosis: The prognosis for AML-MRC is poor, with a worse outcome compared to other subtypes of AML [7].
• Pancytopenia: Patients often present with severe pancytopenia, which refers to a reduction in the number of red and white blood cells, as well as platelets [4].
• Heterogeneous disorder: AML-MRC is considered a heterogeneous disorder, meaning that it can manifest differently in different individuals [5][6].

Definition

AML-MRC is defined by the presence of multilineage dysplasia, myelodysplastic syndrome (MDS), and specific chromosomal abnormalities. It represents 25-34% of all AML cases [3].

Chromosomal Abnormalities

The myelodysplastic changes and MDS-associated chromosomal abnormalities in AML-MRC are associated with a worse prognosis and lower rates of complete remission [7].

In summary, AML-MRC is a type of cancer that affects the blood, characterized by poor prognosis, severe pancytopenia, and specific chromosomal abnormalities. It represents a distinct biologic subtype of AML and has a heterogeneous presentation.

References

[1] Acute myeloid leukemia with myelodysplasia-related changes usually occurs in older adults and has a poor prognosis. [2] Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a cancer affecting the blood. It makes up about one-quarter to one-third of all AML cases. [3] Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) is a distinct biologic subtype of AML that represents 25–34% of all AML cases. [4] Patients with acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) often present with severe pancytopenia. [5] Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous disorder defined by multilineage dysplasia, myelodysplastic syndrome (MDS), and specific chromosomal abnormalities. [6] Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous disorder defined by morphologic, genetic, or clinical features. [7] The myelodysplastic changes and MDS-associated chromosomal abnormalities of AML-MRC are associated with a worse prognosis and lower rates of complete remission.

Common Signs and Symptoms

Acute myeloid leukemia (AML) with myelodysplasia-related changes (AML-MRC) can manifest in various ways. Some common signs and symptoms include:

• Easy bruising or bleeding: This is due to the abnormal production of platelets, which are essential for blood clotting [2].
• Fatigue: AML-MRC can lead to anemia, a condition characterized by a low red blood cell count, resulting in feelings of tiredness and weakness [7][8].
• Fever: An elevated body temperature is often present in individuals with AML-MRC [2].
• Petechiae: These are small, pinpoint spots on the skin that appear due to bleeding under the surface [8].
• Pain: Pain can occur in various parts of the body, including the bones, back, and stomach [3].

Other Possible Symptoms

In addition to these common signs and symptoms, individuals with AML-MRC may also experience:

• Shortness of breath: This can be a result of anemia or other complications related to AML-MRC [8].
• Unusual paleness (pallor): Due to a low red blood cell count, the skin may appear pale or washed out [8].

Prognosis and Complications

It's essential to note that AML-MRC generally has a poor prognosis. The condition can lead to various complications, including anemia, frequent infections, and bleeding that won't stop [5].

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) can be diagnosed through a combination of various tests and evaluations.

Blood Tests: Blood tests are used to detect abnormalities in the blood cells, such as anemia, low platelet count, or high white blood cell count. These tests can help identify the presence of AML-MRC [7].

Bone Marrow Aspiration and Biopsy: This is a definitive diagnostic test that involves removing a sample of bone marrow from the hipbone using a needle. The sample is then examined under a microscope to look for signs of cancer cells, such as abnormal cell morphology or genetic mutations [3][8].

Analysis of Genetic Abnormalities: AML-MRC can be diagnosed based on specific genetic abnormalities, such as complex karyotypes, which are changes in the number or structure of chromosomes. This analysis is typically performed using cytogenetic techniques, such as fluorescence in situ hybridization (FISH) [5].

Diagnostic Imaging: While not a primary diagnostic tool for AML-MRC, imaging studies may be used to evaluate the extent of disease spread and identify any potential complications.

It's worth noting that a diagnosis of AML-MRC requires a comprehensive evaluation of these tests and other clinical findings. The specific diagnostic criteria and therapy outcomes depend on various factors, including the presence of genetic abnormalities and the patient's overall health [9].

References: [3] Aug 3, 2020 — Lastly, to classify a new diagnosis of AML as having myelodysplasia-related changes based on morphology, dysplasia must be present in at least ... [5] by XF Sheng · 2022 — Currently, a diagnosis of AML-MRC can be established on the basis of cytogenetic abnormalities, such as complex karyotypes. The frequency of ... [7] Apr 19, 2024 — AML is diagnosed through a variety of blood tests, a thorough medical history and a physical exam. The goal is to learn as much as possible ... [8] Nov 18, 2024 — Blood tests. Bone marrow aspiration and biopsy (the definitive diagnostic tests). Analysis of genetic abnormalities. Diagnostic imaging. [9] Sep 22, 2022 — , et al. Outcomes of acute myeloid leukemia with myelodysplasia related changes depend on diagnostic criteria and therapy . Am J Hematol ...

Treatment Options for Acute Myeloid Leukemia (AML) with Myelodysplasia-Related Changes (MRC)

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a high-risk subtype of AML that requires aggressive treatment. The goal of therapy is to achieve complete remission and improve overall survival.

Current Treatment Strategies

1. Intensive Induction Therapy: This approach involves using high-dose chemotherapy regimens, such as liposomal daunorubicin-cytarabine (CPX-351), to induce remission.
   • CPX-351 was approved in 2017 for adults with newly diagnosed AML-MRC and those with therapy-related AML (t-AML) [3].
2. Hypomethylating Agents: These medications, such as azacitidine or decitabine, work by modifying the epigenetic landscape of cancer cells.
   • The combination of aza/Ven has been shown to be an effective treatment regimen for AML-MRC/AML-MR [6].
3. Venetoclax: This medication targets and kills cancer cells with specific genetic mutations.
4. Etoposide, Cytarabine, and Mitoxantrone (ECM): This combination chemotherapy regimen is often used in patients who are not candidates for intensive induction therapy [8].
5. Glasdegib: This smoothened inhibitor has been approved for the treatment of AML in patients 75 years or older [9].

Other Treatment Options

1. Stem Cell Transplantation: This procedure involves replacing a patient's bone marrow with healthy stem cells.
2. Targeted Therapies: Medications that target specific genetic mutations, such as FLT3 inhibitors, may be used in combination with other therapies.

Conclusion

The treatment of AML-MRC requires a multidisciplinary approach and careful consideration of individual patient factors. The choice of therapy depends on the patient's age, overall health, and specific disease characteristics. Further research is needed to improve outcomes for patients with this high-risk subtype of AML.

Differential Diagnosis of Acute Myeloid Leukemia with Myelodysplasia-Related Changes (AML-MRC)

Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a subtype of acute myeloid leukemia (AML). The differential diagnosis for AML-MRC involves distinguishing it from other conditions that may present with similar clinical and laboratory features. Here are some key points to consider:

• Myelophthisic anemia: This condition can be distinguished from AML-MRC by the presence of bone marrow fibrosis and a higher percentage of blasts in the peripheral blood.
• Primary myelofibrosis: This condition is characterized by the replacement of bone marrow with fibrotic tissue, which can lead to cytopenias. It can be differentiated from AML-MRC by the absence of blasts in the peripheral blood and the presence of a higher percentage of circulating megakaryocytes.
• Acute megakaryoblastic leukemia: This condition is characterized by the proliferation of megakaryoblasts, which can be distinguished from AML-MRC by the presence of a higher percentage of megakaryoblasts in the bone marrow and peripheral blood.
• Refractory anemia with excess blasts (RAEB): This condition can be differentiated from AML-MRC by the presence of a lower percentage of blasts in the peripheral blood and the absence of specific genetic abnormalities associated with AML-MRC.

Key Diagnostic Features

The diagnosis of AML-MRC relies on the identification of specific morphologic, genetic, or clinical features. These include:

• Biallelic mutation of CEBPA: This genetic abnormality is a key feature of AML-MRC and can be used to support its diagnosis.
• Presence of blasts in the peripheral blood: The presence of a higher percentage of blasts in the peripheral blood is a characteristic feature of AML-MRC.
• Bone marrow findings: The bone marrow biopsy may show evidence of myelodysplasia, including ringed sideroblasts and dysplastic megakaryocytes.

References

[1] by J Vardiman · 2015 · Cited by 60 — Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a heterogeneous disorder defined by morphologic, genetic, or clinical features. [2] Mar 29, 2022 — Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC) is a subtype of acute myeloid leukemia (AML). [3] by J Vardiman · 2015 · Cited by 60 — The diagnosis of AML-MRC relies on the identification of specific morphologic, genetic, or clinical features.