In text citation formatting

-### BL¹

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.¹

-GRHPR 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 mutation pattern in DLBCL implies the preferential accumulation of *inactivating mutations*. Coding and non-coding mutations in GRHPR are a feature of the MCD genetic subgroup of DLBCL.¹ Further research is needed to elucidate the specific role of GRHPR mutations in DLBCL.

-This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.^1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.

-This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.^1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.

-This is one of several genes that encode linker histone proteins that are recurrently mutated in DLBCL and FL.^1,2 Mutations are often found in the globular domain of the protein, which is critical for its interaction with DNA and other histone proteins.

-Mutations in this gene were first described in DLBCL in 2013 by Morin et al.³ Mutations were subsequently reported in FL in 2017 by Krysiak et al⁴ and in BL by Grande et al.⁵

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-HVCN1, a voltage-gated proton channel, has been identified as recurrently mutated in follicular lymphoma and mutations also appear in some DLBCL.¹ HVCN1 mutations disrupt its normal function, affecting B-cell receptor (BCR) signaling pathways.¹ This gene has some recurrent sites of mutations (hot spots) but the function of these mutations is not well understood. The mutation pattern in DLBCL and FL implies the preferential accumulation of *inactivating mutations*.

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-IKZF3 (IKAROS family zinc finger 3, also known as AIOLOS) is a transcription factor involved in regulating B-cell development and function. Mutations in IKZF3 can lead to transcriptional dysregulation and contribute to the pathogenesis of B-cell neoplasms. IKZF3 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. IKZF3 has multiple hot spot mutations in DLBCL. The most common, L162R, has been identified as a driver in CLL. In that context, it alters DNA binding specificity and causes hyperactivation of B-cell receptor (BCR) signaling and overexpression of NF-κB target genes.^{[@lazarianHotspotMutationTranscription2021]} While primarily studied in CLL, the functional effects of IKZF3 mutations could have implications for other B-cell malignancies, including DLBCL

-Mutations in IL4R have been identified in various types of B-cell lymphomas, particularly primary mediastinal large B-cell lymphoma (PMBCL) and DLBCL. IL4R 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. IL4R mutations are found in approximately 24.2% of primary PMBCL cases. These mutations are commonly single nucleotide variants in exon 8, resulting in the I242N amino acid change. This leads to constitutive activation of the JAK-STAT signaling pathway and upregulation of downstream cytokine expression profiles and B cell-specific antigens.^1,2 In DLBCL, IL4R mutations are more rare and tend to occur within the GCB subgroup.²

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-The ITPKB gene encodes inositol-trisphosphate 3-kinase B, an enzyme involved in the regulation of intracellular calcium levels and PI3K/Akt signaling pathways. Mutations in ITPKB have been linked to various B-cell lymphomas, including DLBCL, PMBCL and, less commonly, FL.¹ ITPKB 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. These mutations are associated with the **BN2** genetic subgroup of DLBCL. The mutation pattern in ITPKB implies selection for loss-of-function mutations.

-JUNB has been reported to be frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma (THRLBCL).^{[@schuhmacherJUNBDUSP2SGK12019]} Mutations have also been reported in DLBCL but the mutation rate in the earliest study^{[@reddyGeneticFunctionalDrivers2017]} was likely an over-estimate.^{[@drevalRevisitingReddyDLBCL2023]} According to one study, mutations are often enriched at somatic hypermutation hotspot sites, indicating the involvement of aberrant somatic hypermutation in the pathogenesis of these lymphomas.^{[@schuhmacherJUNBDUSP2SGK12019]}

-Mutations in this gene were first described in FL in 2021 by Hübschmann et al.¹

-KLF2 (Kruppel-like factor 2) is a transcription factor involved in the regulation of various cellular processes, including apoptosis, proliferation, and differentiation. Mutations in KLF2 have been identified in various B-cell lymphomas including DLBCL.¹ KLF2 mutations are among the most common mutations in splenic marginal zone lymphoma (SMZL).²

-KLF2 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. These mutations are associated with the **BN2** genetic subgroup of DLBCL.³

-KLF2 mutations have been shown to impair the ability of KLF2 to suppress NF-κB activation by TLR, BCR, BAFFR, and TNFR signaling, thereby promoting lymphomagenesis. This implicates KLF2 as a tumor suppressor in B-cell lymphomas.²

-KLHL14 (Kelch-like family member 14) is a gene that has been identified as playing a role in B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL).¹ KLHL14 has been identified as a recurrent target of somatic mutations in ABC DLBCLs. These mutations are a feature of the MCD genetic subgroup of DLBCL. The gene encodes a protein involved in the ubiquitin-proteasome system, and its inactivation leads to increased cell proliferation and survival, suggesting its role as a tumor suppressor.² KLHL14 loss has been shown to BCR-dependent NF-κB activation and cell survival in DLBCL.² This gene has some mutation hotspots but the patter of mutation overall is consistent with its role as a tumor suppressor gene.

-KLHL6 mutations appear to be relatively common in DLBCL, FL and possibly BL.¹ KLHL6 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. KLHL6 mutations lead to the loss of its function as part of a cullin-RING ubiquitin ligase complex.

-KLHL6 is considered a tumor suppressor gene in DLBCL with mutations tending to disrupt its interaction with cullin3, leading to the loss of its ligase activity.²

-This gene has been reported to be recurrently mutated in DLBCL. The rate of mutations in KMT2C (MLL3) varies across published cohorts. In the initial study describing these mutations, it was suggested to be mutated in >15% of DLBCLs.¹ The actual rate of mutations may be much lower,² potentially due to the existence of germline variants in some studies.³ A more recent study suggested KMT2C mutations were more common in DLBCLs in patients of African ancestry.⁴ Although KMT2C mutations have been described as a feature of MCL in a single study, this pattern was not reproduced in other cohorts.⁵

-KRAS mutations are rare but occur in some cases of DLBCL.¹ These often affect the most common KRAS hotspot sites that are mutated in other solid cancers (G12 and G13).

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-Mutations in this gene were first described in DLBCL in 2021 by Hübschmann et al.¹

-MCL1 (Myeloid Cell Leukemia 1) is a member of the BCL2 family of proteins that play a critical role in inhibiting apoptosis. It is frequently overexpressed and sometimes mutated in DLBCL.^1,2

-Recurrent chromosomal gains and amplifications of the MCL1 locus occur are frequent in ABC-DLBCLs.¹

-MGA acts as a transcriptional repressor and interacts with MYC, a well-known oncogene. Mutations in MGA have been described in DLBCL.¹ One study suggested MGA mutations were more common in DLBCLs in patients of African ancestry.² The mutation pattern in MGA is consistent with a role as a tumour suppressor gene.

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-Mutations in MPEG1 have been described in DLBCL¹ 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.

-| |1 |high-confidence DLBCL gene[@morinMutationalStructuralAnalysis2013; @schmitzGeneticsPathogenesisDiffuse2018a]|

-Mutations in this gene were first described in FL in 2021 by Hübschmann et al.¹

-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.¹

-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.¹ Mutations are relatively common in DLBCL and MCL.²

-### BL³

-### BL³

-P2RY8 encodes a G protein–coupled receptor that is expressed on germinal center B cells. Signals through this receptor promote confinement of B cells to the GC niche.¹ Downstream signaling through Galpha13 (encoded by GNA13) and S1PR2 is distrupted by mutations of one of these genes in GC lymphomas including the GCB subgroup of DLBCL and BL.[muppidiLossSignalingGa132014]

-### DLBCL¹

-### BL²

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-Mutations in this gene were first described in DLBCL and FL in 2021 by Hübschmann et al.¹

-Recurrent mutations at the D419 amino acid residue are a common feature in DLBCL, specifically affecting the germinal center B (GCB) cell subtype. These mutations lead to the activation of the JAK/STAT signaling pathway, contributing to lymphomagenesis ^{[@morinGeneticLandscapesRelapsed2016]}.

-Mutations in BL were first described by Grande et al.¹

-### DLBCL²

-### DLBCL²