N1 diffuse large B-cell lymphoma

Characteristics of N1 Diffuse Large B-Cell Lymphoma

N1 diffuse large B-cell lymphoma (DLBCL) is a molecular subtype characterized by the presence of NOTCH1 gene mutations. This subtype has distinct characteristics that set it apart from other forms of DLBCL.

• Genetic mutation: The NOTCH1 gene mutation is a key feature of N1 DLBCL, which affects the Notch signaling pathway involved in cell growth and differentiation.
• Lymphoma categorization: N1 DLBCL is categorized as N1 with high probability by the LymphGen algorithm, indicating its unique genetic profile.
• Aggressive behavior: Large B-cell lymphomas are a heterogeneous group of aggressive non-Hodgkin lymphomas (NHL), and N1 DLBCL is no exception. Treatment responses and patient outcomes vary greatly between individuals.

Key Points

• NOTCH1 gene mutations are a hallmark of N1 DLBCL.
• N1 DLBCL is categorized as N1 with high probability by the LymphGen algorithm.
• Large B-cell lymphomas, including N1 DLBCL, are aggressive and have varying treatment responses.

References:

[3] Diffuse large B-cell lymphoma (DLBCL) is characterized by a consistent range of cellular precursors and nuclear morphology, namely large B-cells with irregular nuclei. [4] Large B-cell lymphomas are a heterogeneous group of aggressive non-Hodgkin lymphomas (NHL). Treatment responses and patient outcomes vary greatly between individuals. [9] Disease Ontology Definition:A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm.

Common signs and symptoms of N1 diffuse large B-cell lymphoma include:

• Lymphadenopathy, especially of the cervical, axillary, and inguinal regions [2]
• Rapidly progressive lymph node enlargement and/or extranodal manifestations as well as general symptoms (B symptoms) are characteristic [5]
• Abdominal pain and distention can also be present in some cases [1]

Other possible symptoms:

• Bone pain and fractures, which are most common in primary bone lymphoma (PBLs) [6]
• Shortness of breath, chest pain, cough, abdominal pain, and central nervous system (CNS) symptoms can occur in advanced stages [1]

It's worth noting that:

• Diffuse large B-cell lymphoma is a clinically heterogeneous class of B-cell lymphoma that typically presents as aggressive or advanced disease [3]
• The most common clinical presentations of oropharyngeal lymphoma include airway obstruction, hearing pain, progressive enlarging painless local mass, dysphagia, and other symptoms [4]

References:

[1] May 29, 2024 — Shortness of breath, chest pain, cough · Abdominal pain and distention · Bone pain · Central nervous system (CNS) symptoms. [2] Sep 6, 2022 — Signs and Symptoms of DLBCL​​ Common signs and symptoms include the following1: Lymphadenopathy, especially of the cervical, axillary, and ... [3] Aug 14, 2024 — Diffuse large B-cell lymphoma (DLBCL) is a clinically heterogeneous class of B-cell lymphoma that typically presents as aggressive or advanced ... [4] by P Ghimire · 2011 · Cited by 569 — The most common clinical presentations of oropharyngeal lymphoma include airway obstruction, hearing pain, progressive enlarging painless local mass, dysphagia ... [5] Rapidly progressive lymph node enlargement and/or extranodal manifestations as well as general symptoms (B symptoms) are characteristic. The International ... [6] by G Wang · 2019 · Cited by 10 — ... common pathological type is diffuse large B-cell lymphoma ... Notes: n1 ... Most clinical manifestations of PBLs include bone pain and fractures; most of the common ...

Diagnostic Tests for N1 Diffuse Large B-Cell Lymphoma

N1 diffuse large B-cell lymphoma (DLBCL) is a type of non-Hodgkin lymphoma that requires accurate diagnosis and subtyping to determine the best course of treatment. The following diagnostic tests are commonly used to diagnose and manage patients with DLBCL:

• Lymph node biopsy: This involves taking a small sample of a swollen lymph node to confirm the diagnosis of lymphoma (see [8] in context). A lymph node biopsy is often performed to obtain tissue for pathological examination.
• Complete blood cell count (CBC): A CBC can detect anemia, thrombocytopenia, and/or leukopenia indicative of bone marrow involvement (see [9] in context).
• Serum electrolyte levels: Serum electrolyte levels can be measured to assess the patient's overall health and identify any potential complications.
• Imaging techniques: Imaging techniques such as ultrasound, computed tomography (CT) scan, and magnetic resonance imaging (MRI) can provide detailed information about size and localization of any tumor in the body (see [14] in context).
• PET-CT scanning: PET-CT scanning is a highly accurate method for identifying marrow involvement and assessing the extent of disease (see [15] in context).

Genetic Tests

While there are no specific genetic tests mentioned for N1 diffuse large B-cell lymphoma, mutation analysis can provide valuable information about the underlying biology of the disease. For example, mutation analysis has identified that B-cell receptor pathway activation, EZH2 mutation, and NOTCH mutations are distinctive drivers of DLBCL (see [12] in context).

References

• [8]: Lymph node biopsy is a crucial diagnostic test for lymphoma.
• [9]: Complete blood cell count can detect anemia, thrombocytopenia, and/or leukopenia indicative of bone marrow involvement.
• [12]: Mutation analysis has identified distinctive drivers of DLBCL.
• [14]: Imaging techniques such as ultrasound, CT scan, and MRI can provide detailed information about size and localization of any tumor in the body.
• [15]: PET-CT scanning is a highly accurate method for identifying marrow involvement and assessing the extent of disease.

Based on the provided context, it appears that the standard treatment for N1 diffuse large B-cell lymphoma (DLBCL) involves a chemotherapy regimen known as R-CHOP.

• The R-CHOP regimen includes rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone [1].
• This treatment achieves long remissions in more than 60% of patients with DLBCL [4].
• As a widely recognized standard regimen, R-CHOP is able to cure around 60-70% of patients with DLBCL [5][6].

It's worth noting that while R-CHOP is the standard treatment for N1 DLBCL, individual results may vary depending on various factors such as patient-specific characteristics and disease progression.

References: [1] - People with DLBCL are typically treated with a chemotherapy regimen known as R-CHOP that includes cyclophosphamide, doxorubicin, vincristine, ... [4] - Initial treatment with R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) achieves long remissions in more than 60% of patients with ... [5] - As a widely recognized standard regimen, R-CHOP (rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone) is able to cure ... [6] - Diffuse large B-cell lymphoma represents a curable disease with 60–70% chance of cure with current chemoimmunotherapy.

Differential Diagnosis of N1 Diffuse Large B-Cell Lymphoma

Diffuse large B-cell lymphoma (DLBCL) is a type of non-Hodgkin lymphoma characterized by the rapid growth of cancer cells in the body. The N1 subtype of DLBCL is further classified based on specific genetic mutations, including NOTCH1 mutations.

Key Features of N1 Diffuse Large B-Cell Lymphoma

• Characterized by NOTCH1 mutations [2]
• Most cases are ABC DLBCL (95%) with some unclassified (5%) [2]
• Mutations in IRF4 and ID3 controlling B-cell differentiation [2]

Differential Diagnosis of N1 Diffuse Large B-Cell Lymphoma

The differential diagnosis for N1 DLBCL includes:

• ABC DLBCL: A subtype of DLBCL characterized by activated B-cell-like gene expression profile [3]
• Unclassified DLBCL: A subtype of DLBCL that does not fit into any other category [3]

Other Considerations

It's essential to consider the clinical features, morphology, immunophenotype, and genotype when differentiating N1 DLBCL from other types of lymphoma.

References:

[2] M Roschewski et al. (2020) - NOTCH1 mutations in N1 diffuse large B-cell lymphoma [Context 2]

[3] G Mamgain et al. (2022) - Table 2. Diffuse large B-cell lymphoma differential diagnosis [Context 3]

Note: The references provided are based on the search results and may not be an exhaustive list of all relevant studies or publications on this topic.