B-lymphoblastic leukemia/lymphoma with TCF3-PBX1

B-lymphoblastic leukemia/lymphoma (B-ALL/LBL) with TCF3-PBX1 is a rare and aggressive form of cancer that affects the blood and bone marrow.

• It is characterized by the presence of lymphoblasts, which are immature white blood cells, in the bone marrow and blood.
• The TCF3-PBX1 gene fusion is a recurrent genetic abnormality in pediatric B-ALL/LBL, where the E2A (TCF3) gene on chromosome 19 fuses with the PBX1 gene on chromosome 6 [5][7].
• This genetic abnormality leads to uncontrolled cell growth and proliferation of lymphoblasts, which can spread to other parts of the body.
• B-ALL/LBL with TCF3-PBX1 is often associated with a poor prognosis and requires aggressive treatment, including chemotherapy and targeted therapy.

Key characteristics:

• Age: Primarily affects children and young adults [2][3].
• Genetics: Characterized by the TCF3-PBX1 gene fusion [5][7].
• Symptoms: May present with symptoms such as fever, fatigue, weight loss, and bone or joint pain.
• Treatment: Requires aggressive treatment, including chemotherapy and targeted therapy.

References:

[5] A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on [6]. [7] Alt IDs: NCI:C80347; Definition: A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between [8].

Common Signs and Symptoms

B-lymphoblastic leukemia/lymphoma (B-ALL) with TCF3-PBX1 can present with a range of symptoms, including:

• Fatigue [2]
• Pallor [10]
• Infection [2]
• Bone pain [1, 5]
• CNS symptoms (e.g., headache) [2]
• Easy bruising and bleeding [2, 10]

These symptoms can vary in severity and may not be present at all. Some patients may be asymptomatic, with the condition being discovered incidentally on a complete blood count.

Additional Symptoms

Other possible symptoms of B-ALL with TCF3-PBX1 include:

• Weight loss
• Fever
• Night sweats [4]
• Hepatosplenomegaly (enlargement of the liver and spleen) [10]
• Lymphadenopathy (enlargement of lymph nodes) [10]

Prognostic Factors

The presence of TCF3-PBX1 has been associated with a poor prognosis in some studies [8, 9]. However, it's essential to note that the prognostic impact can vary depending on individual patient factors and other genetic abnormalities.

References:

[1] leukemia/patient/adult-all-treatment-pdq [2] Symptoms include fatigue, pallor, infection, bone pain, CNS symptoms (eg, headache), easy bruising, and bleeding. [3] Clinical manifestations, pathologic features, and diagnosis of B cell acute lymphoblastic leukemia/lymphoma. [4] Signs and Symptoms, EXAMPLE: Asymptomatic (incidental finding on complete blood counts). EXAMPLE: B-symptoms (weight loss, fever, night sweats). [5] ... PBX1 (TCF3-PBX1. Effective 2010 and later ... Signs and Symptoms. Anemia. Arthralgias. Bone pain ... [6] Case of B-acute lymphoblastic leukaemia with t(1;19)(q23;p13. 3) TCF3::PBX1 and co-occurring CBL mutation in an elderly patient. [7] A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on. [8] Poor prognosis of children with pre-B acute lymphoblastic leukemia is associated with the t(1;19)(q23; p13): a Pediatric Oncology Group study ... [9] Clinical features and prognostic impact of TCF3-PBX1 in childhood acute lymphoblastic leukemia: A single-center retrospective study of 837 ... [10] Patients commonly present with signs and symptoms including pallor, fever, easy bruising, hepatosplenomegaly, and lymphadenopathy. Histologically, abnormal ...

Diagnostic Tests for B-Lymphoblastic Leukemia/Lymphoma (B-ALL/LBL) with TCF3-PBX1

The diagnosis of B-ALL/LBL with TCF3-PBX1 involves several tests to confirm the presence of this specific genetic abnormality. Here are some of the diagnostic tests used:

• RT-PCR positivity: This test detects the presence of the TCF3-PBX1 fusion mRNA, which is a hallmark of this disease [1].
• Presence of fusion mRNA detected by RT-PCR: This test confirms the diagnosis of B-ALL/LBL with TCF3-PBX1 by detecting the specific fusion mRNA [1].
• TCF3-PBX1 positive B-LBL detected by evidence of the t(1;19)(q23;p13.3) translocation: This test detects the chromosomal translocation that leads to the formation of the TCF3-PBX1 fusion gene [2].
• WES (Whole Exome Sequencing): This test can identify KMT2D mutations and 6q LOH as recurrent alterations in patients with TCF3-PBX1-positive B-LBL [4].

Additional Diagnostic Information

The diagnosis of B-ALL/LBL with TCF3-PBX1 is typically confirmed by a combination of these tests. Additionally, the presence of specific histological features can also support this diagnosis.

• Positive histology: The presence of positive histology in peripheral blood or other tissues can confirm the diagnosis [8].
• Genetics and/or immunophenotyping: These tests can provide additional information to support the diagnosis of B-ALL/LBL with TCF3-PBX1 [8].

References

[1] by M Kubota-Tanaka · 2019 · Cited by 15 — Survey for TCF3-PBX1 positive B-LBL detected by the evidence of the t(1;19)(q23;p13.3) translocation, RT-PCR positivity, or presence of fusion mRNA detected by ...

[2] Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia ...

[4] by R Shirai · 2022 · Cited by 5 — In this study, through WES for seven patients with TCF3‐PBX1‐positive B‐LBL, we identified KMT2D mutations and 6q LOH as recurrent alterations. In order to ...

[8] Diagnostic Confirmation. This histology can be determined by positive histology (including peripheral blood) with or without genetics and/or immunophenotyping.

Note: The references provided are based on the search results and may not reflect the most up-to-date information.

Treatment Options for B-Lymphoblastic Leukemia/Lymphoma with TCF3-PBX1

B-Lymphoblastic leukemia/lymphoma (B-ALL) with TCF3-PBX1 fusion is a rare and aggressive form of blood cancer. While there are no specific treatment guidelines for this subtype, the following information provides an overview of the current understanding of its management.

• Chemotherapy: Historically, intensification of chemotherapy has been used to improve survival in patients with TCF3-PBX1 positive ALL [1]. The NHL-BFM95-based chemotherapeutic regimen has been used in some cases, although relapse rates remain a concern [2].
• Bone Marrow Transplantation: Hematologic transplant and/or endocrine procedures, including bone marrow transplantation, may be considered for patients with high-risk or relapsed disease [3].
• Targeted Therapies: While there are no specific targeted therapies approved for TCF3-PBX1 positive B-ALL, research has identified recurrent mutation patterns and therapeutic vulnerabilities in this subtype [4].

Available Treatments

The following treatments have been mentioned as potential options for B-lymphoblastic leukemia/lymphoma with TCF3-PBX1:

• Cyclophosphamide
• Mycophenolic acid
• Lenograstim
• Adjuvants, Immunologic

Please note that these treatment options should be discussed and tailored to individual patient needs by a qualified healthcare professional.

References: [1] M Kubota-Tanaka (2019) - [1] [2] M Kubota-Tanaka (2019) - [6] [3] NORD rare disease drug ... - [7] [4] T Burmeister (2023) - [10]

Differential Diagnosis of B-Lymphoblastic Leukemia/Lymphoma with TCF3-PBX1

B-lymphoblastic leukemia/lymphoma (B-ALL) is a type of cancer that affects the blood and bone marrow. The TCF3-PBX1 fusion gene is a specific genetic abnormality found in some cases of B-ALL. When diagnosing B-ALL with TCF3-PBX1, it's essential to consider differential diagnoses to rule out other conditions.

Differential Diagnoses:

• Acute Lymphoblastic Leukemia (ALL): ALL is a type of cancer that affects the blood and bone marrow. It can be classified into different subtypes based on the specific genetic abnormalities present.
• Burkitt Lymphoma: Burkitt lymphoma is a type of non-Hodgkin lymphoma that can affect the abdomen, intestines, or other parts of the body.
• Acute Myeloid Leukemia (AML): AML is a type of cancer that affects the blood and bone marrow. It's characterized by the rapid growth of abnormal white blood cells.
• Chronic Myeloid Leukemia (CML): CML is a type of cancer that affects the blood and bone marrow. It's