Korean J Ophthalmol.  2015 Oct;29(5):285-293. 10.3341/kjo.2015.29.5.285.

Clinicopathologic Study of Chromosomal Aberrations in Ocular Adnexal Lymphomas of Korean Patients

• Choung H
• Kim YA
• Kim N
• Lee MJ
• Khwarg SI

• KMID: 2363801
• DOI: http://doi.org/10.3341/kjo.2015.29.5.285

Abstract

PURPOSE
The incidence and clinical correlation of MALT1 translocation and chromosomal numerical aberrations in Korean patients with ocular adnexal mucosa associated lymphoid tissue (MALT) lymphoma have not yet been reported. We investigated the incidence and clinicopathologic relationship of these chromosomal aberrations in ocular adnexal MALT lymphomas in a Korean population.
METHODS
Thirty ocular adnexal MALT lymphomas were investigated for the t(11;18) API2-MALT1, t(14;18) IgH-MALT1 translocations and chromosomes 3 and 18 aneuploidies using fluorescence in situ hybridization. Patient medical records were reviewed retrospectively for information on demographics and clinical characteristics, including treatment response.
RESULTS
The MALT1 gene rearrangement was found in one out of 30 cases. The t(14;18) IgH-MALT1 translocation was demonstrated in only one case (3.3%), and the t(11;18) API2-MALT1 translocation was not found in any of the cases. Trisomy 3 was observed in three ocular adnexal MALT lymphomas (10.0%), and five cases showed trisomy 18 (16.7%). Translocation positive cases also showed trisomy 18. One case of tumor relapse showed trisomy 18 only in the recurrent biopsies. There were no statistically significant correlations between chromosomal aberrations and clinical characteristics and treatment responses.
CONCLUSIONS
Translocations involving the MALT1 gene are not common in Korean ocular adnexal MALT lymphomas. The t(14;18) translocation was detected in only one out of 30 cases, and the t(11;18) translocation was not found at all. Furthermore, the chromosomal aberrations found in this study had no prognostic implications.

Keyword

IGH-MALT1 fusion protein, human; Lymphoma, B cell, marginal zone; Translocation, genetic; Trisomy

MeSH Terms

Adult
Aged
*Chromosome Aberrations
*Chromosomes, Human, Pair 14
Chromosomes, Human, Pair 18/*genetics
Eye Neoplasms/diagnosis/epidemiology/*genetics
Female
Humans
In Situ Hybridization, Fluorescence
Incidence
Lymphoma, B-Cell, Marginal Zone/diagnosis/epidemiology/*genetics
Male
Middle Aged
Republic of Korea/epidemiology
Translocation, Genetic
Young Adult

Figure

• 

  Fig. 1 Fluorescence in situ hybridization detection of IgH-MALT1 translocation, trisomy 3 and 18 in ocular adnexal mucosa associated lymphoid tissue (MALT) lymphomas. (A) Green signal represents IgH and red signal MALT1 gene. Yellow fusion signals (red+green) were detected in a t(14;18)-positive case of ocular MALT lymphoma using dual color dual fusion translocation probe. (B,C) Red signals represent centromeric regions of chromosome 3 (B) or 18 (C). Three red signals were shown in trisomy 3 or 18 of ocular adnexal MALT lymphomas, respectively.

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