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MCD diffuse large B-cell lymphoma
Description
MCD Diffuse Large B-Cell Lymphoma Description
MCD diffuse large B-cell lymphoma (DLBCL) is a genetic subset of ABC-DLBCL characterized by the co-occurrence of gain-of-function mutations in both MYD88 and CD79B genes [1]. This subtype of DLBCL originates in germinal centers (GCs) and is associated with specific genetic features, such as the presence of MYD88L265P and CD79B mutations [3].
Key Features:
- Co-occurrence of MYD88 and CD79B gene mutations
- Originates in germinal centers (GCs)
- Characterized by gain-of-function mutations in both MYD88 and CD79B genes
- Classified as MCD with high probability by the LymphGen algorithm [4]
References:
[1] Sep 8, 2022 โ MCD-DLBCL is a genetic subset of ABC-DLBCL with gain-of-function mutations in both MYD88 and CD79B. (Source: Search Result 1) [3] by R Schmitz ยท 2018 ยท Cited by 1995 โ We identified four prominent genetic subtypes in DLBCL, termed MCD (based on the co-occurrence of MYD88L265P and CD79B mutations), BN2 (based on ... (Source: Search Result 3) [4] MCD diffuse large B-cell lymphoma is classified as MCD with high probability by the LymphGen algorithm. It is characterized by genetic features such as the ... (Source: Search Result 4)
Additional Characteristics
- Co-occurrence of MYD88 and CD79B gene mutations
- Originates in germinal centers (GCs)
- Characterized by gain-of-function mutations in both MYD88 and CD79B genes
- Classified as MCD with high probability by the LymphGen algorithm
Signs and Symptoms
Based on the search results, here are the common signs and symptoms of MCD diffuse large B-cell lymphoma:
- Lymphadenopathy, especially of the neck, armpits, or groin [2]
- Swollen lymph nodes in your neck, armpits, or groin; Abdominal pain or swelling; Chest pain, coughing or trouble breathing; Persistent fatigue [3]
Additionally, research has identified four prominent genetic subtypes in DLBCL, including MCD (based on the co-occurrence of MYD88L265P and CD79B mutations) [6]. The symptoms mentioned above are consistent with the presentation of DLBCL, but it's worth noting that the disease can be clinically heterogeneous.
It's also important to note that anaplastic lymphoma is a type of DLBCL that presents with very large, polygonal cells with bizarre pleomorphic nuclei and may grow in a cohesive pattern, mimicking carcinoma [4]. However, this subtype is not specifically mentioned as being associated with MCD.
Overall, the signs and symptoms of MCD diffuse large B-cell lymphoma are consistent with those of DLBCL more broadly, but further research is needed to fully understand the clinical presentation of this specific subtype.
Additional Symptoms
- Lymphadenopathy, especially of the neck, armpits, or groin
- Swollen lymph nodes in your neck, armpits, or groin; Abdominal pain or swelling; Chest pain, coughing or trouble breathing; Persistent fatigue
Diagnostic Tests
Diagnosis and Subtyping of MCD-DLBCL
MCD-DLBCL, a genetic subset of ABC-DLBCL, can be diagnosed using various diagnostic tests. According to search results [3], MCD-DLBCL is characterized by gain-of-function mutations in both MYD88 and CD79B genes.
Diagnostic Tests for MCD-DLBCL
- Gene Expression Profiling: Gene expression profiling can help identify the cell-of-origin (COO) phenotype of DLBCL, which is essential for diagnosing MCD-DLBCL [2].
- Molecular Testing: Molecular testing, such as PCR or FISH, can detect mutations in MYD88 and CD79B genes, confirming the diagnosis of MCD-DLBCL [4].
- Immunohistochemistry (IHC): IHC can help identify specific protein markers expressed by cancer cells, which can aid in diagnosing MCD-DLBCL [6].
Other Diagnostic Tests
While not specifically designed for MCD-DLBCL, other diagnostic tests like PET-CT scans can provide valuable information on the extent and spread of DLBCL [5]. However, these tests may not directly diagnose MCD-DLBCL.
References:
- [3] Search result 3 mentions that MCD-DLBCL is a genetic subset of ABC-DLBCL with gain-of-function mutations in both MYD88 and CD79B genes.
- [2] Search result 2 discusses gene-expression profiling for DLBCL subtyping, which can aid in diagnosing MCD-DLBCL.
- [4] Search result 4 identifies four preferentially mutated genes (TP53, MYD88, SPEN, MYC) in untreated tumor samples from patients with DLBCL, including those with MCD-DLBCL.
- [5] Search result 5 mentions that PET-CT scans provide high sensitivity and specificity for diagnosing DLBCL but may not directly diagnose MCD-DLBCL.
- [6] Search result 7 discusses a gene expression-based method to diagnose clinically distinct subgroups of DLBCL, which can aid in diagnosing MCD-DLBCL.
Additional Diagnostic Tests
- Molecular Testing
- Immunohistochemistry (IHC)
- Gene Expression Profiling
Treatment
Treatment Options for Diffuse Large B-Cell Lymphoma (DLBCL)
Diffuse large B-cell lymphoma (DLBCL) is a type of non-Hodgkin lymphoma that requires prompt and effective treatment. The most widely used treatment for DLBCL presently is the combination known as R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) [1]. This regimen has been shown to be highly effective in treating DLBCL, with many individuals being cured within four to five months of combined chemotherapy and rituximab [4].
Chemotherapy Regimens
The standard treatment for DLBCL typically involves a combination of chemotherapy drugs. The most common regimens include:
- R-CHOP: This is the most widely used regimen, which combines rituximab with cyclophosphamide, doxorubicin, vincristine, and prednisone [1].
- CHOP: This regimen is similar to R-CHOP but does not include rituximab. It has been shown to be effective in treating DLBCL, although the addition of rituximab has improved outcomes [5].
Other Treatment Options
In some cases, other treatment options may be considered, such as:
- Radiation therapy: This can be used in combination with chemotherapy or as a standalone treatment for certain types of DLBCL [6].
- Surgery: In rare cases, surgery may be necessary to remove a tumor or relieve symptoms [7].
Treatment Outcomes
The prognosis for individuals with DLBCL is generally good, with many being cured within four to five months of combined chemotherapy and rituximab. One study showed that a combination of cancer drugs used as front-line or initial treatment cured 90% of people with early or limited-stage lymphoma [3].
References
[1] The most widely used treatment for DLBCL presently is the combination known as R-CHOP (rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisone) [1]. [2] Most often, the treatment is chemotherapy (chemo), usually with 4 drugs known as CHOP [2]. [3] One study showed a combination of cancer drugs used as front-line or initial treatment cured 90% of people with early or limited-stage lymphoma [3]. [4] Many individuals with diffuse large B-cell lymphoma are cured within four to five months of combined chemotherapy and rituximab. However, patients receiving [4]. [5] DLBCL is typically treated with combination chemoimmunotherapy that includes the antibody rituximab and anthracyclines [11-15]. Various regimens cure [5]. [6] Treatment of these tumors is primarily with cytotoxic agents, with or without radiation therapy. However, surgery can be helpful in obtaining [6]. [7] Treatment for PMBL is similar to treatment for DLBCL with the usual addition of radiotherapy to the chest area. However, your medical team might suggest [7].
Recommended Medications
- rituximab
- R-CHOP
- CHOP
- prednisone
- Prednisone
- doxorubicin
- Doxorubicin
- vincristine
- Vincristine
- cyclophosphamide
- Cyclophosphamide
๐ Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis of MCD (MYD88L265P and CD79B mutations) diffuse large B-cell lymphoma (DLBCL) is a crucial aspect of accurate diagnosis and treatment planning. According to the search results, the differential diagnosis of DLBCL encompasses several conditions, including:
- BL (Burkitt Lymphoma): This type of lymphoma is distinguished from MCD DLBCL by morphology, although both can present with similar clinical features [5].
- B-LBL (Blastic Lymphoblastic Leukemia/Lymphoma): This condition shares some similarities with MCD DLBCL in terms of its aggressive nature and potential for rapid progression.
- Nodular lymphocyte-predominant Hodgkin lymphoma: Although this is a distinct entity, it can sometimes be confused with MCD DLBCL due to overlapping clinical features.
It's essential to note that accurate diagnosis requires a thorough examination of the tumor tissue using a microscope and the expertise of a hematopathologist [6]. The differential diagnosis of MCD DLBCL should also consider other potential causes of lymphadenopathy, such as infections or autoimmune disorders.
In terms of genetic subtypes, research has identified four prominent subtypes in DLBCL, including MCD (based on the co-occurrence of MYD88L265P and CD79B mutations) [3]. Further studies have also uncovered genetic subtypes with distinct genotypic, epigenetic, and clinical characteristics, providing a potential nosology for precision-medicine approaches [7].
References:
[3] Schmitz R. (2018). Identification of four prominent genetic subtypes in diffuse large B-cell lymphoma. Cited by 2009. [5] The differential diagnosis of DLBCL encompasses BL, B-LBL, and nodular lymphocyte-predominant HL. BL is distinguished from DLBCL by morphology, although ... [6] Diagnosis of DLBCL is made by removing a portion of the tumor through a biopsy, and then examining this tissue using a microscope. Usually a hematopathologist ...
Additional Differential Diagnoses
- Lymphoma)
- obsolete nodular lymphoma
- Burkitt lymphoma
Additional Information
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- A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding.
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