Abstract
Ocular adnexal mucosa associated lymphoid tissue lymphomas (OAMALTL) are the most common lymphomas of the eye. The potential roles for specific antigens in these lymphomas are still controversial. Previously we examined
IGHV
usage and mutations
IGHV
in
Chlamydophila (C) psittaci
-negative OAMALTL, demonstrating biased use of the
IGHV4
family and
IGHV4-34
gene and evidence for antigen selection. Herein, we examined the
IKGV/IGLV
gene usage and mutations in 34
C. psittaci
-negative OAMALTL originating from the orbit (15), conjunctivae (14) and lacrimal gland (5). Clonal potentially functional
IGKV/IGLV
gene sequences were identified in 30 tumors (18 kappa and 12 lambda). An overrepresentation of the IGKV4 family (p<0.01) was observed. The IGKV3-20*01 allele was used at a greater frequency than in normal peripheral blood B-lymphocytes (p=0.02) and commonly paired with the IGHV4-34 allele. 27 of the 30 unique light chain sequences displayed mutations from germline and evidence for antigen selection. Overall our findings demonstrate that in
C. psittaci
-negative OAMALTL there is a biased usage of
IGKV
families and genes, which harbor somatic mutations. These findings and the specific paring between the IGKV3-20*01 and IGHV4-34 alleles suggest that specific antigens could play an important role in the pathogenesis of these lymphomas.
