B-lymphoblastic leukemia/lymphoma MLL rearranged

B-Lymphoblastic Leukemia/Lymphoma (MLL Rearranged): An Overview

B-lymphoblastic leukemia/lymphoma (B-ALL) with a MLL (Mixed Lineage Leukemia) rearrangement is a type of cancer that affects the blood and bone marrow. It is characterized by the presence of lymphoblasts, which are immature white blood cells, that carry a translocation involving the KMT2A gene at 11q23.3.

Key Features:

• Lymphoblasts with MLL rearrangement: The cancerous cells in B-ALL with MLL rearrangement have a specific genetic abnormality, where the KMT2A gene is involved in a translocation.
• Aggressive behavior: This type of leukemia/lymphoma tends to be more aggressive and has an early relapse rate compared to other types of B-ALL.
• High incidence of CNS involvement: There is a relatively high incidence of central nervous system (CNS) involvement, which can lead to complications such as brain or spinal cord tumors.

References:

• [1] MLL-rearranged ALL (MLL-r-ALL) is characterized by hyperleukocytosis, aggressive behavior with early relapse, relatively high incidence of CNS involvement... [1]
• B-lymphoblastic leukemia/lymphoma MLL rearranged is defined by the presence of lymphoblasts with a translocation involving the KMT2A gene at 11q23.3, leading to ... [3]
• The bone marrow core biopsy specimen shows sheets of immature blasts... [5]

Prognosis and Treatment:

While B-ALL with MLL rearrangement has an unfavorable prognosis, advances in treatment have improved outcomes for patients. Treatment typically involves a combination of chemotherapy, radiation therapy, and stem cell transplantation.

References:

• Patients with mixed lineage leukemia (MLL)–rearranged B-lymphoblastic leukemias (B-ALL) have an unfavorable prognosis and require... [9]

Common Signs and Symptoms

B-lymphoblastic leukemia/lymphoma (B-ALL) with MLL rearrangement can present with a range of symptoms, including:

• Fatigue [1]
• Pallor [4]
• Fever [6][7]
• Easy bruising or bleeding [6][8]
• Enlarged lymph nodes [6]
• Bone pain [1]

These symptoms may develop slowly and persist for months, or they can appear suddenly as an acute illness. It's essential to seek medical attention if you experience any of these symptoms.

Additional Information

The specific etiology of leukemia with MLL translocations is unknown, but it may occur in utero, with a short latency between the translocation and the development of symptoms [2]. Patients commonly present with signs and symptoms including pallor, fever, easy bruising, hepatosplenomegaly, and lymphadenopathy [8].

References

[1] Symptoms include fatigue, pallor, infection, bone pain, CNS symptoms (eg, headache), easy bruising, and bleeding. Examination of peripheral blood smear and bone marrow biopsy are essential for diagnosis.

[2] The specific etiology of leukemia with MLL translocations is unknown; however, it may occur in utero, with a short latency between the translocation and the development of symptoms.

[4] Nov 18, 2024 — Fever · Signs and symptoms of anemia, such as pallor, fatigue, dizziness, palpitations, cardiac flow murmur, and dyspnea with even mild exertion.

[6] Symptoms may include feeling tired, pale skin color, fever, easy bleeding or bruising, enlarged lymph nodes, or bone pain. As an acute leukemia, ALL progresses rapidly.

[7] ALL may present clinically as an acute illness or with symptoms that develop slowly and persist for months. The most common findings include fever, fatigue, ...

[8] Patients commonly present with signs and symptoms including pallor, fever, easy bruising, hepatosplenomegaly, and lymphadenopathy. Histologically, abnormal cells are found in the bone marrow and peripheral blood.

Note: The above information is based on the search results provided and may not be an exhaustive list of all possible symptoms or information related to B-ALL with MLL rearrangement.

Based on the search results, it appears that there are several diagnostic tests used to identify B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) with MLL rearrangement.

• Bone Marrow Biopsy: This test is a crucial part of diagnosing B-ALL/LBL and can help identify the presence of MLL rearrangement. [1]
• Genetic Testing: Genetic testing, such as fluorescence in situ hybridization (FISH), can be used to detect MLL rearrangements in patients with B-ALL/LBL. [3]
• Immunophenotyping: Immunophenotyping is a diagnostic test that can help identify the lineage of leukemic cells as lymphoid, which is consistent with B-ALL/LBL. [8]

It's worth noting that MLL rearrangement is a specific genetic abnormality associated with B-ALL/LBL, and its detection requires specialized testing.

References:

[1] Context result 2 [3] Context result 3 [8] Context result 8

Treatment Options for MLL-Rearranged B-Lymphoblastic Leukemia/Lymphoma

B-lymphoblastic leukemia/lymphoma (B-ALL) with MLL rearrangements is a type of cancer that affects the blood and bone marrow. The treatment options for this condition are evolving, but here are some current approaches:

• Chemotherapy: Chemotherapy remains a cornerstone in the treatment of B-ALL, including those with MLL rearrangements. Drugs such as vincristine, prednisone, asparaginase, fludarabine, and cytarabine can be used to stop the growth of cancer cells [7].
• Targeted Therapy: Targeted therapies, such as inotuzumab ozogamicin (an anti-CD22 drug conjugated antibody), have shown promise in treating relapsed B-ALL, including those with MLL rearrangements [5]. This therapy works by targeting specific proteins on the surface of cancer cells.
• CAR T-cell Therapy: Chimeric antigen receptor (CAR) T-cell therapy is a type of immunotherapy that uses genetically modified T-cells to recognize and attack cancer cells. This treatment has shown efficacy in treating relapsed or refractory B-ALL, including those with MLL rearrangements [8].
• Reinduction Regimens: Reinduction regimens are used to treat patients who have relapsed or failed initial therapy. These regimens often involve a combination of chemotherapy and targeted therapies.

New Treatment Modalities

Recent studies have highlighted the need for new treatment modalities, particularly for MLL-rearranged B-ALL [10]. Researchers are exploring novel approaches, such as BET-, DOT1L-, SET-, and MEN1/MLL inhibitors, which target specific molecular mechanisms involved in cancer development.

References:

• [7] Drugs used in chemotherapy, such as vincristine, prednisone, asparaginase, fludarabine, and cytarabine work in different ways to stop the growth of cancer cells.
• [5] Inotuzumab ozogamicin has demonstrated high efficacy in inducing complete remission in relapsed ALL, even in the presence of MLL rearrangements.
• [8] Treatments for relapsed or refractory ALL include CAR T-cell therapy, antibody-drug conjugates, and reinduction regimens.
• [10] New treatment modalities are urgently needed for MLL-rearranged B-ALL.

Based on the search results, it appears that you are looking for the differential diagnosis of B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) with MLL rearrangement.

Differential Diagnoses:

• Acute Myeloid Leukemia (AML)
• B-Cell Lymphoma
• High-Grade Malignant Immunoblastic Lymphoma
• Mantle Cell Lymphoma
• Non-Hodgkin Lymphoma

These differential diagnoses are mentioned in the search results [9].

Key Features of MLL Rearrangement:

The genetic hallmark of most infant B-ALL is chromosomal rearrangements of the mixed-lineage leukemia (MLL) gene. This is a key feature that distinguishes MLL-rearranged B-ALL from other types of leukemia and lymphoma [5].

Diagnostic Criteria:

A diagnosis of acute lymphoblastic leukemia is made when blast cells of lymphoid origin are ≥ 20% of marrow nucleated cells or ≥ 20% of non-erythroid cells. This diagnostic criterion is mentioned in the search results [4].

Cytogenetic FISH Studies:

Cytogenetic FISH studies can be used to confirm the presence of MLL rearrangement, which is a characteristic feature of infant B-ALL. However, it's worth noting that cytogenetic FISH studies are negative for a BCR/ABL1 translocation [3].

Flow Cytometric Analysis:

Flow cytometric analysis can also be used to confirm the lineage of leukemic cells as lymphoid, which is essential for diagnosing acute lymphoblastic leukemia. This is mentioned in the search results [6].

In conclusion, the differential diagnosis of B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) with MLL rearrangement includes Acute Myeloid Leukemia (AML), B-Cell Lymphoma, High-Grade Malignant Immunoblastic Lymphoma, Mantle Cell Lymphoma, and Non-Hodgkin Lymphoma. The presence of MLL rearrangement is a key feature that distinguishes this type of leukemia from other types.

References:

[3] Cytogenetic FISH studies: Negative for a BCR/ABL1 translocation. [4] A diagnosis of acute lymphoblastic leukemia is made when blast cells of lymphoid origin are ≥ 20% of marrow nucleated cells or ≥ 20% of non-erythroid cells. [5] The genetic hallmark of most infant B-ALL is chromosomal rearrangements of the mixed-lineage leukemia (MLL) gene. [6] Flow cytometric analysis can also be used to confirm the lineage of leukemic cells as lymphoid, which is essential for diagnosing acute lymphoblastic leukemia.