Abstract

BackgroundIt remains unknown whether primary ocular adnexal extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) is a homogeneous entity, as there are few reports of the results of cytogenetic or molecular analyses of these tumors.MethodsWe performed interphase fluorescence in situ hybridization (FISH) analysis to detect translocations and aneuploidy in 34 cases of primary ocular adnexal MALT lymphoma, and reviewed the histopathological findings. Correlations between the results of FISH analysis, the histopathological features and the clinical data were also analyzed.ResultsAmong the 34 cases, FISH analysis revealed t(14;18)(q32;q21) in one case, trisomy 3 in 21 cases (62%), and trisomy 18 in 16 cases (47%). The cases with trisomy 18 had significantly more prominent lymphoepithelial lesions (LELs) and less nodularity in the tumors. In regard to the clinical correlations, tumors with trisomy 18 were observed predominantly in females and younger patients; also, in the majority of the cases, the tumor was of conjunctival origin. All the cases with recurrence showed trisomy 18 in the tumor.ConclusionPrimary ocular adnexal MALT lymphoma is a significantly heterogeneous entity. Cases with trisomy 18 may have unique clinicopathological features.

Highlights

  • It remains unknown whether primary ocular adnexal extranodal marginal zone Bcell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) is a homogeneous entity, as there are few reports of the results of cytogenetic or molecular analyses of these tumors

  • While it is difficult by standard karyotypic analysis to distinguish this translocation from that in follicular lymphoma which is derived from fusion of the immunoglobulin heavy chain (IgH) gene with the bcl-2 gene, fluorescence in situ hybridization (FISH) analysis is useful for the differentiation

  • There were three age peaks; 8 patients who were less than 40 years of age, 12 patients who were 50 years of age and 14 patients who were more than 60 years of age

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Summary

Introduction

It remains unknown whether primary ocular adnexal extranodal marginal zone Bcell lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma) is a homogeneous entity, as there are few reports of the results of cytogenetic or molecular analyses of these tumors. Various cytogenetic changes, such as t(11;18)(q21;q21), and t(1;14)(p22;q32) and trisomy 3, 7, 12 and 18, have been detected as recurrent chromosomal aberrations in this tumor [4,5,6,7,8]. T(14;18)(q32;q21), which is derived from fusion of the immunoglobulin heavy chain (IgH) gene with the MALT lymphoma-associated translocation (MALT1) gene has been described [9]. While it is difficult by standard karyotypic analysis to distinguish this translocation from that in follicular lymphoma which is derived from fusion of the IgH gene with the bcl-2 gene, FISH analysis is useful for the differentiation.

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