acute myeloid leukemia with t(1;22)(p13;q13)

Acute megakaryoblastic leukemia (AMKL) with the chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion, is a rare subtype of acute myeloid leukemia (AML). This condition is characterized by clonal proliferation of myeloid cells and is predominantly found in infants [6][9].

The AMKL with t(1;22)(p13;q13) is included under three subtypes of AML: AMKL with chromosome t(1;22)(p13;q13) with gene RBM15-MKL1; Myeloid proliferations related to Down syndrome: transient myeloproliferative disorder (TMD); and other myeloid disorders [7].

This subtype of AML is part of the "AML with recurrent genetic abnormalities" group, which means that diagnostic confirmation will always be based on genetics. The AMKL with t(1;22)(p13;q13) is associated with a distinct HOX gene expression pattern [4].

The RBM15-MKL1 fusion resulting from the t(1;22)(p13;q13) translocation plays a crucial role in the pathogenesis of this subtype of AML. This genetic abnormality leads to the disruption of normal cellular processes, ultimately contributing to the development of leukemia.

In summary, AMKL with t(1;22)(p13;q13) is a rare and distinct subtype of AML characterized by the RBM15-MKL1 fusion, predominantly found in infants, and associated with a specific HOX gene expression pattern.

Symptoms of Acute Megakaryoblastic Leukemia (AMKL)

Acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML). The symptoms of AMKL can vary, but they often include:

• Anemia: A condition characterized by a lack of red blood cells or hemoglobin in the body [3].
• Bleeding or bruising due to thrombocytopenia (low platelet count): This is a common symptom of AMKL, as the disease affects the production of platelets, leading to easy bruising and bleeding [2][4].
• Increased susceptibility to infections: Patients with AMKL may be more prone to infections due to their weakened immune system [3].
• Enlarged spleen (hepatosplenomegaly): This is a common symptom in infants and young children with AMKL, where the spleen becomes enlarged due to the accumulation of abnormal cells [2].

Additionally, patients may also experience:

• Fatigue: A feeling of tiredness or weakness that can be caused by anemia or other factors [4].
• Pallor: A pale appearance of the skin and mucous membranes due to a lack of red blood cells [3].
• Fever: An elevated body temperature, which can be a sign of infection or inflammation [2].

It's essential to note that these symptoms can vary in severity and may not be present in all patients with AMKL. A definitive diagnosis is typically made through genetic testing and bone marrow examination.

References: [1] - Not applicable (search results did not contain relevant information on this topic) [2] - Context result 3 [3] - Context result 8 [4] - Context result 4

Acute myeloid leukemia (AML) with a chromosomal translocation t(1;22)(p13;q13), resulting in the RBM15-MKL1 fusion gene, is a rare subtype of AML. The diagnosis of this condition requires a combination of clinical and laboratory tests.

Blood Tests: Blood tests are an essential part of diagnosing AML with t(1;22)(p13;q13). These tests can help identify abnormalities in the blood cells, such as an increased number of blasts (immature white blood cells) [5]. A complete blood count (CBC) and peripheral blood smear are typically performed to assess the percentage of blasts in the blood.

Bone Marrow Examination: A bone marrow aspiration and biopsy are crucial for diagnosing AML with t(1;22)(p13;q13). This procedure involves removing a sample of bone marrow from the hipbone using a needle. The sample is then examined under a microscope to assess the percentage of blasts in the bone marrow [5].

Histochemical Studies, Cytogenetics, Immunophenotyping: Additional tests such as histochemical studies, cytogenetics, and immunophenotyping are also performed to confirm the diagnosis. These tests can help identify specific characteristics of the cancer cells, such as their morphology, genetic abnormalities, and surface markers [8].

Other Diagnostic Tests: In some cases, other diagnostic tests may be necessary to rule out other conditions or to assess the severity of the disease. For example, imaging studies such as X-rays, CT scans, or MRI scans may be performed to evaluate the extent of bone marrow involvement.

It is essential to note that accurate diagnosis of AML with t(1;22)(p13;q13) can be challenging due to the rarity of this condition and the presence of bone marrow fibrosis in some patients [12]. Therefore, a multidisciplinary approach involving hematologists, pathologists, and other healthcare professionals may be necessary for an accurate diagnosis.

Treatment Options for Acute Myeloid Leukemia (AML) with t(1;22)(p13;q13)

Acute myeloid leukemia (AML) with the chromosomal translocation t(1;22)(p13;q13) is a rare subtype of AML. While there are limited studies specifically focusing on this subtype, treatment options for AML in general can be considered.

• Chemotherapy: Combination chemotherapy is often used as a first-line treatment for AML, including the megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) subtype [3][7].
• Stem Cell Transplantation: Stem cell transplantation may be considered for patients who are eligible and have a suitable donor match. This can be an effective treatment option, especially in cases where the disease is refractory to chemotherapy [6].
• Targeted Therapy: With the recent approval of new therapies such as CPX-351, enasidenib, ivosidenib, gemtuzumab ozogamicin, and midostaurin, targeted therapy has emerged as a promising treatment option for AML in general. However, specific efficacy data for t(1;22)(p13;q13) subtype is limited [8].

Long-term Effects of Treatment

The risk of developing long-term effects depends on the type and dose of treatment used and the age at which the patient underwent treatment. As with other forms of AML, patients with t(1;22)(p13;q13) may experience long-term effects such as secondary cancers or organ damage [9].

References

• [3] Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities.
• [7] Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) is a rare subtype of acute myeloid leukemia with recurrent cytogenetic abnormalities.
• [6] Treatments for children with acute myeloid leukemia (AML) include combination chemotherapy, stem cell transplant, and targeted therapy.
• [8] 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.
• [9] The risk of developing any long-term effects depends on the type and dose of treatment that was used and the age at which the patient underwent treatment.

Differential Diagnosis of Acute Myeloid Leukemia (AML) with t(1;22)(p13;q13)

Acute myeloid leukemia (AML) is a type of cancer that affects the bone marrow and blood. In some cases, AML can be associated with specific genetic abnormalities, such as the chromosomal translocation t(1;22)(p13;q13). This rare subtype of AML is characterized by the fusion of the RBM15 and MKL1 genes.

Differential Diagnosis

The differential diagnosis for AML with t(1;22)(p13;q13) includes several conditions that can mimic this rare subtype of leukemia. These include:

• Minimally differentiated AML: This condition is characterized by a low percentage of blast cells in the bone marrow and blood.
• Acute panmyelosis with myelofibrosis: This is a rare subtype of AML that is associated with fibrosis (scarring) of the bone marrow.
• Acute lymphoblastic leukemia (ALL): ALL is a type of cancer that affects the lymphoid cells in the blood and bone marrow.
• Pure erythroid leukemia: This is a rare subtype of AML that is characterized by an overproduction of red blood cells.
• Blastic transformation of myelodysplastic syndromes (MDS): MDS are a group of conditions that affect the production of blood cells in the bone marrow.

Key Features

The differential diagnosis for AML with t(1;22)(p13;q13) can be made by considering several key features, including:

• Age: This subtype of AML is typically seen in infants and young children.
• Genetic abnormalities: The presence of the t(1;22)(p13;q13) translocation is a diagnostic feature of this rare subtype of leukemia.
• Bone marrow morphology: The bone marrow biopsy may show an increased number of blast cells, with some cases showing a predominance of megakaryoblasts.

References

• [3] Acute myelogenous leukemia (AML) is a malignant disease of the bone marrow and blood.
• [11] Acute myeloid leukemia (megakaryoblastic) with t(1;22) is a rare form of AML affecting infants almost exclusively.
• [13] The reciprocal translocation t(1;22)(p13;q13) involving the RBM15 and MKL1 genes is an uncommon abnormality that occurs in a subset of acute myeloid leukemia with megakaryocytic differentiation (AMKL).