2bc664731809561e1534b7bed440a40453af433a
MPEG1.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | Mutations in MPEG1 have been described in DLBCL<sup>1</sup> with the overall rate of mutations somewhat variable across studies. MPEG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Coding and non-coding MPEG1 mutations are a feature of the MCD genetic subgroup of DLBCL. |
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| 5 | 6 | ## History |
| 6 | 7 | ```mermaid |
| 7 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
MS4A1.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | MS4A1 encodes the CD20 protein, which is the target of rituximab and other therapeutic monoclonal antibodies. MS4A1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. In relapsed DLBCLs, MS4A1 is sometimes mutated and these mutations have been shown to reduce CD20 expression.<sup>1</sup> |
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| 5 | 6 | ## History |
| 6 | 7 | ```mermaid |
| 7 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
MTOR.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | Although mutations in MTOR have been reported in DLBCL<sup>1</sup> and some BL, their role in lymphomagenesis has not been thoroughly studied. |
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| 5 | 6 | ## History |
| 6 | 7 | ```mermaid |
| 7 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
NFKBIA.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the **ST2** genetic subgroup of DLBCL.<sup>1</sup> |
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| 5 | 6 | ## History |
| 6 | 7 | ```mermaid |
| 7 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |
NFKBIE.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | NFKBIE encodes IκBε, a negative regulator of NF-κB. Mutations in NFKBIE can disrupt this regulatory function, leading to constitutive activation of NF-κB signaling.<sup>1</sup> Mutations are relatively common in DLBCL and MCL.<sup>2</sup> |
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| 5 | 6 | ## History |
| 6 | 7 | |
| 7 | 8 | ```mermaid |
NFKBIZ.md
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| 2 | 2 | |
| 3 | 3 | ## Overview |
| 4 | 4 | The NFKBIZ gene is a significant player in NF-κB signaling, with mutations leading to its deregulation. This pathway is critical in the pathogenesis of ABC DLBCL. NFKBIZ is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. The predominant cluster of mutations in NFKBIZ is in the 3' UTR and not a consequence of aSHM. NFKBIZ 3' UTR mutations confer a selective growth advantage in DLBCL cells by stabilizing NFKBIZ mRNA, resulting in increased protein levels.<sup>1</sup> |
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| 5 | 6 | ## History |
| 6 | 7 | ```mermaid |
| 7 | 8 | %%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% |