acute myeloid leukemia with t(8;21); (q22; q22.1)

Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1)

Acute myeloid leukemia (AML) is a type of cancer that affects the blood and bone marrow. The t(8;21)(q22;q22.1) abnormality is a specific genetic mutation that occurs in a minority of AML patients.

Characteristics:

• This translocation results in an in-frame fusion of two genes, resulting in the RUNX1/RUNX1T1 fusion transcript.
• The neutrophil lineage shows maturation in this type of leukemia.
• It is often associated with favorable outcomes and a higher likelihood of remission.

Key Points:

• This genetic abnormality is seen most often in patients with M2 subtype of AML.
• AML with t(8;21)(q22;q22.1) is part of the Group of AML with recurrent genetic abnormalities.
• Commonly observed cytogenetic abnormalities in AML include t(15;17), trisomy 8, t(8;21), inv(16) or t(16;16), and 11q23.3 rearrangements.

References:

• [10] The t(8;21) abnormality occurs in a minority of acute myeloid leukemia (AML) patients.
• [13] Favorable abnormalities: Translocation between chromosomes 8 and 21 (seen most often in patients with M2)
• [14] Acute myeloid leukemia (AML) with t(8;21)(q22;q22) is part of the Group of AML with recurrent genetic abnormalities.
• [15] Commonly observed cytogenetic abnormalities in AML include t(15;17), trisomy 8, t(8;21), inv(16) or t(16;16) and 11q23.3 rearrangements.

Common Signs and Symptoms of Acute Myeloid Leukemia with t(8;21)

Acute myeloid leukemia (AML) with the translocation t(8;21)(q22;q22.1) can present with a range of symptoms, which may vary in severity and duration. Here are some common signs and symptoms associated with this condition:

• Fatigue: Feeling extremely weak or tired, even after resting [4].
• Pallor: Pale skin due to anemia or decreased red blood cell production [4].
• Easy bruising and bleeding: Easy bruising or bleeding from minor cuts or injuries due to low platelet count [4].
• Fever: Recurring fever can be a sign of infection, which is common in AML patients [4].
• Infection: Increased susceptibility to infections due to weakened immune system [7].

Rare but Possible Symptoms

Some rare symptoms associated with acute myeloid leukemia with t(8;21) include:

• Myeloid sarcomas: Tumors or masses composed of leukemic cells can form in various parts of the body, such as the skin, lymph nodes, or organs [2].
• Blast transformation: A rare but serious complication where the disease transforms into a more aggressive form, often requiring immediate treatment [10].

Important Note

It's essential to note that not all patients with acute myeloid leukemia and t(8;21) will experience these symptoms. Some may have no noticeable symptoms at all, while others may exhibit additional or different symptoms.

References:

[1] by H Reikvam · 2011 · Cited by 163 [2] Tumor manifestations such as myeloid sarcomas may be present at diagnosis; in these cases an initial BM aspiration may show a misleading low number of blast ... [3] by S Kamran · 2019 · Cited by 2 — Acute myeloid leukemia (AML) with balanced translocation t (8;21) is one of the most frequent chromosomal abnormalities and carries a favorable ... [4] Symptoms include fatigue, pallor, easy bruising and bleeding, fever, and infection; symptoms of extramedullary leukemic infiltration are present in only about 5 ... [5] May 1, 2016 — Acute myeloid leukemia (AML) with t(8;21)(q22;q22) is part of the Group of AML with recurrent genetic abnormalities. Phenotype stem cell origin. [6] by P Lin · 2008 · Cited by 55 — We conclude that acute myeloid leukemia associated with t(8;21) is a heterogeneous disease with poor survival in a subset of patients unrelated ... [7] Nov 18, 2024 — Acute myelogenous leukemia (AML) is a malignant disease of the bone marrow in which hematopoietic precursors are arrested in an early stage ... [8] Sep 22, 2022 — 2)/BCR::ABL1, are now considered to establish a diagnosis of AML if there are ≥10% blasts in the bone marrow or blood. The clinical behavior of ... [9] A rare acute myeloid leukemia with recurrent genetic anomaly disorder characterized by a t(8;21)(q22;q22) balanced translocation cytogenetic abnormality, ... [10] by C Asou · 2024 — Blast transformation is a rare but well-recognized event in Philadelphia-negative myeloproliferative neoplasms associated with a poor ...

Diagnostic Tests for Acute Myeloid Leukemia with t(8;21)

Acute myeloid leukemia (AML) with a translocation between chromosomes 8 and 21, denoted as t(8;21)(q22;q22.1), is a specific subtype of AML. The diagnostic tests for this condition are crucial in identifying the disease and determining its prognosis.

Key Diagnostic Tests:

• Molecular Genetic Testing: This test detects the RUNX1-RUNX1T1 gene fusion, which is a result of the t(8;21) translocation [3][5]. The test can be performed on bone marrow or blood samples.
• Cytogenetic Analysis: This test examines the chromosomes for any abnormalities, including the t(8;21) translocation [7][13].
• Flow Cytometry: This test uses a panel of antibodies to identify specific cell surface markers and distinguish AML from other types of leukemia [14].

Other Diagnostic Tests:

• Bone Marrow Examination: A bone marrow examination is essential in diagnosing AML, including the t(8;21) subtype. The examination involves examining the bone marrow cells under a microscope.
• Blood Count: A complete blood count (CBC) can help identify any abnormalities in the blood cells.

Importance of Diagnostic Tests:

The diagnostic tests for AML with t(8;21) are crucial in determining the prognosis and guiding treatment decisions. The presence of this specific translocation is associated with a relatively favorable prognosis compared to other subtypes of AML [10].

In conclusion, the diagnostic tests for acute myeloid leukemia with t(8;21)(q22;q22.1) include molecular genetic testing, cytogenetic analysis, flow cytometry, bone marrow examination, and blood count. These tests are essential in identifying the disease and determining its prognosis.

Treatment Options for AML with t(8;21)

Acute Myeloid Leukemia (AML) with a translocation between chromosomes 8 and 21, specifically at the q22;q22.1 region, is a subtype of AML that has been associated with a relatively favorable prognosis.

• High-dose cytarabine-based therapy: Studies have shown that patients with AML with t(8;21) who receive high-dose cytarabine-based therapy tend to have more favorable outcomes [4].
• Anthracycline and cytarabine: Standard treatment for AML with t(8;21) typically involves anthracycline and cytarabine, followed by 2-4 courses of consolidation therapy [3].
• CPX-351 (liposomal daunorubicin and cytarabine): In patients deemed fit, treatment can involve CPX-351 or conventional chemotherapy, ideally followed by consolidation therapy [7].

Emerging Therapies

Recent studies have also explored the potential of other therapies for AML with t(8;21).

• Cabozantinib: Research suggests that cabozantinib may be effective in treating AML with t(8;21) and KIT mutation, warranting further clinical trials [8].
• Decitabine and venetoclax: Early results of a 10-day regimen of decitabine combined with venetoclax are encouraging, particularly in patients with newly diagnosed AML with t(8;21) [9].

References

[3] by S Al-Harbi · 2020 · Cited by 107 — Therapy of AML with t(8;21), especially in the upfront setting, relies on standard anthracycline and cytarabine, followed by 2 to 4 courses of consolidation therapy.

[4] by NIS Saidin · 2023 — AML with t(8;21)(q22;q22) has demonstrated more favorable prognoses, particularly when treated with high-dose cytarabine-based therapy.

[7] by SA Strickland · 2022 · Cited by 60 — In patients deemed fit, t-AML treatment can involve CPX-351 (liposomal daunorubicin and cytarabine) or conventional chemotherapy, ideally followed by consolidation therapy.

[8] by KW Su · 2022 · Cited by 7 — We suggest that cabozantinib may be effective in the treatment of AML with t(8;21) and KIT mutation. Relevant clinical trials are warranted.

[9] Apr 1, 2020 — Early results with a 10-day regimen of decitabine in combination with venetoclax are encouraging, especially in patients with newly diagnosed AML with t(8;21).

Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1): A Review

The differential diagnosis of Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1) involves identifying the specific genetic abnormality that characterizes this subtype of AML.

Key Features:

• The translocation t(8;21)(q22;q22.1) results in the fusion of the RUNX1 and RUNX1T1 genes, leading to the formation of a chimeric protein [2].
• This genetic abnormality is one of the most common chromosomal abnormalities in AML, found in approximately 5-10% of patients [7].
• The presence of t(8;21)(q22;q22.1) is strongly associated with a favorable prognosis and a higher likelihood of achieving complete remission [2].

Differential Diagnosis:

To establish the diagnosis of AML with t(8;21)(q22;q22.1), clinicians must rule out other conditions that may present with similar clinical features, such as:

• Acute lymphoblastic leukemia (ALL)
• Myelodysplastic syndromes (MDS)
• Chronic myeloid leukemia (CML)

Diagnostic Criteria:

The diagnosis of AML with t(8;21)(q22;q22.1) is based on the following criteria:

• The presence of ≥ 20% myeloid blast cells in the bone marrow or peripheral blood [8].
• Cytogenetic analysis demonstrating the translocation t(8;21)(q22;q22.1).
• Molecular testing confirming the fusion of RUNX1 and RUNX1T1 genes.

References:

[2] S Kamran, 2019 - Acute myeloid leukemia (AML) with balanced translocation t (8;21) is one of the most frequent chromosomal abnormalities and carries a favorable prognosis. [7] B Bacova, 2022 - The translocation t(8;21)(q22;q22) is one of the most common chromosomal abnormalities in acute myeloid leukemia (AML). [8] AML with ≥ 20% myeloid blast cells in the bone marrow or peripheral blood. [12] A differential is a gear train that allows different speeds of rotation for two or more shafts.