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Ocular adnexal marginal zone lymphoma (OAMZL) is a distinct type of lymphoma that presents in tissues around the eyeball. The lymphoma develops from mature B lymphocytes that have been triggered by antigens for prolonged times. It seems that the B cells often recognize autoantigens. The lymphoma cells often carry specific chromosomal gains and, in some cases, chromosomal translocations. A main factor in the development of this lymphoma is the constitutive activation of the NF-κB pathway, which occurs through various types of genetic alterations. Further key pathogenetic mechanisms involve epigenetic changes, indicated by recurrent mutations in epigenetic regulators.
Chromosomes or Genes Affected | Type of Genetic Alteration | Pathway or Main Function | Approximate Frequency (%) | References |
---|---|---|---|---|
Chromosomal alterations | ||||
Trisomy 3 | Chromosomal gain | unclear (FOXP1?) |
30–60 | [46][47][48] |
Trisomy 18 | Chromosomal gain | unclear | 20–55 | [46][47][48] |
t(11;18)(q21;q21) | BIRC3-MALT1 translocation | NF-κB pathway | 10–15 | [44][49] |
t(14;18)(q32;q21) | IGH-MALT1 translocation | NF-κB pathway | 5–10 | [43][46][50] |
t(3;14)(p14.1;q32) | FOXP1-IGH translocation | B-cell development and survival (NF-κB pathway) | 5–15 | [51][52] |
Gene mutations | ||||
TNFAIP3 | Deletions, non-synonymous mutations | NF-κB pathway | 30–50 | [53][54][55][56][57] |
MYD88 | Non-synonymous mutations (mostly p.L265P) | NF-κB pathway | 5–35 | [54][57][58][59][60] |
NOTCH1 | Non-synonymous mutations (mostly HD and PEST domains) | NOTCH pathway | 2–10 | [54][56][61] |
NOTCH2 | Non-synonymous mutations (mostly TAD and PEST domains) | NOTCH pathway | 5–10 | [54][62] |
KMT2D | Non-synonymous mutations | Epigenetic regulation | 5–20 | [54][56][57][62] |
CREBBP | Non-synonymous mutations | Epigenetic regulation | 15 | [26][56] |
TBL1XR1 | Non-synonymous mutations (mostly WD40 domain) | Regulation of nuclear receptor activity (NF-κB and AP1 pathway) | 10–20 | [26][56][57][61] |
JAK3 | Non-synonymous mutations | JAK/STAT signaling | 5–10 | [26][57] |
CABIN1 | deletions, Non-synonymous mutations | NFAT signaling | 30% | [63] |
RHOA | deletions, Non-synonymous mutations | Rho signaling | 26% | [63] |