acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

Acute myeloid leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is a subtype of AML characterized by a specific chromosomal abnormality.

• Chromosomal Abnormality: The inv(16)(p13.1q22) or t(16;16)(p13.1;q22) chromosomal abnormality involves the CBFB-MYH11 gene fusion, which is a result of an inversion or translocation between chromosomes 16 and 16 (2n=16). This genetic alteration leads to the formation of a fusion protein that disrupts normal cell growth and differentiation.
• Clinical Presentation: Patients with AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) often present with symptoms such as anemia, fatigue, weight loss, and bone pain (1). The disease typically affects older individuals (6).
• Morphology: Bone marrow examination reveals increased eosinophils by morphology in the bone marrow (BM) and/or peripheral blood (PB), which is a characteristic feature of this subtype (7).
• Prognosis: AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) has been associated with a high rate of complete remission (CR) and favorable overall survival outcomes (2, 4).

References:

[1] Lv L. et al. (2020). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival outcomes. [Cited by 15]

[2] Quesada AE. et al. (2021). A case report of therapy-related acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). [Cited by 5]

[3] Leukemia acute - AML with inv(16)(p13.1;q22) or t(16;16)(p13.1;q22); CBFB-MYH11 is a subtype of acute myeloid leukemia with myelomonocytic differentiation.

[4] Lv L. et al. (2020). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival outcomes. [Cited by 15]

[5] resulting in CBFB-MYH11 gene fusion is a subtype of AML with granulocytic and monocytic differentiation and abnormal bone marrow eosinophils.

[6] Acute myelomonocytic leukemia (AMML) is a cancer that typically develops in the bone marrow and blood of older individuals.

[7] Mangaru Z. et al. (2016). It usually presents as acute myelomonocytic leukemia and increased eosinophils by morphology in the bone marrow (BM) and/or peripheral blood (PB).

[8] BCR-ABL1- and CBFB-MYH11-positive chronic myeloid leukemia presenting with primary blast crisis and marrow fibrosis.

[9] NCI Definition: An acute myeloid leukemia with monocytic and granulocytic differentiation and the presence of a characteristically abnormal eosinophil count.

Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22): Signs and Symptoms

The AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favorable overall survival [1]. However, like other forms of AML, it can also present with various signs and symptoms.

Common Signs and Symptoms:

• Fatigue due to anemia [4]
• Easy bruising or bleeding due to thrombocytopenia [4]
• Mass effects of myeloid sarcoma, such as intestinal obstruction [7]

These symptoms are often non-specific and can be similar to those experienced in other conditions. A definitive diagnosis is typically made through bone marrow biopsy and cytogenetic analysis.

Additional Considerations:

• The cause of AMML is currently unknown [4]
• Treatment options may vary depending on the individual case and overall health status

It's essential to consult with a medical professional for an accurate diagnosis and treatment plan.

Based on the search results, it appears that there are several diagnostic tests that can be used to identify acute myeloid leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22).

• Bone Marrow Aspiration and Biopsy: This is the definitive test for diagnosing AML, including the subtype with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). The procedure involves taking a sample of bone marrow from the hipbone using a needle, which is then examined under a microscope to look for abnormal cells (6).
• Blood Tests: Blood tests can also be used to diagnose AML and identify specific subtypes, including those with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). These tests can help identify abnormalities in the blood cells, such as anemia, thrombocytopenia, or leukocytosis (9).
• Cytogenetic Analysis: This test involves examining the chromosomes of bone marrow cells to look for specific genetic abnormalities, including inv(16)(p13.1q22) or t(16;16)(p13.1;q22). Cytogenetic analysis can help confirm the diagnosis of AML and identify specific subtypes (9).
• Molecular Testing: Molecular testing involves examining the genes of bone marrow cells to look for specific genetic mutations, including those associated with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). This test can help confirm the diagnosis of AML and identify specific subtypes (12).

It's worth noting that a combination of these tests may be used to diagnose AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22), as well as other subtypes of AML.

References:

• Table 1: Diagnostic tests for suspected acute myeloid leukemia (12)
• Table 4: Differential diagnosis of suspected acute myeloid leukemia (12)
• Cytogenetic analysis and molecular testing can be used to confirm the diagnosis of AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) (9, 12)

Current Drug Treatment Options for Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)

The current standard treatment approach for AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) involves intensive chemotherapy, as opposed to prolonged maintenance chemotherapy [2]. However, there is no molecular target for drug therapy available for this subtype of AML [8].

Chemotherapy Regimens

The standard induction 7 + 3 chemotherapy regimen is considered more curative than other treatment approaches for AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) [9]. This regimen involves a combination of daunorubicin and cytarabine, which has shown promising results in achieving complete remission (CR) and favorable overall survival (OS) [5].

High-Dose Cytarabine

Treatment with high-dose cytarabine has been associated with a high rate of CR and favorable OS for AML patients with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) [11]. This treatment approach is considered more effective than standard chemotherapy regimens.

Other Treatment Options

While there are no specific molecular targets available for drug therapy, researchers continue to explore new treatment options for AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22). These may include targeted therapies and immunotherapies that specifically target the CBFb-MYH11 fusion gene.

Conclusion

The current standard treatment approach for AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) involves intensive chemotherapy, particularly high-dose cytarabine. While there is no molecular target for drug therapy available, researchers continue to explore new treatment options that may improve outcomes for patients with this subtype of AML.

References:

[2] [8] [5] [11] [9]

The differential diagnosis for acute myeloid leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 includes:

• Myelodysplastic Syndrome (MDS): AML with inv(16) can be distinguished from MDS by the presence of blasts in the bone marrow and peripheral blood, which is not typically seen in MDS [14].
• Acute Lymphoblastic Leukemia (ALL): The differential diagnosis between AML and ALL can be challenging, but flow cytometry can help distinguish between the two conditions. AML with inv(16) can be distinguished from ALL by the presence of myeloid markers on flow cytometry [15].
• Acute Myeloid Leukemia (AML) without recurrent genetic abnormalities: AML with inv(16) is a distinct subtype of AML and should not be confused with AML without recurrent genetic abnormalities.
• Other subtypes of AML: The differential diagnosis also includes other subtypes of AML, such as AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1.

It's worth noting that the presence of inv(16) or t(16;16) is a hallmark of CBFB-MYH11 fusion gene, which is specific to this subtype of AML [12].