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

Abstract

PurposeThe 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.MethodsThirty 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.ResultsThe 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.ConclusionsTranslocations 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.

Identifying Genetic Lesions in Ocular Adnexal Extranodal Marginal Zone Lymphomas of the MALT Subtype by Whole Genome, Whole Exome and Targeted Sequencing

“…This led to major insights into recurrent gene mutations, chromosomal translocations, and copy number gains and losses in OAML. A major finding was that somatic mutations affecting genes of the NF-κB pathway are a hallmark of OAML, but that translocations deregulating NF-κB pathway members are relatively rare in comparison to other MALT lymphomas [9][10][11][12]28]. However, the question remained as to whether the landscape of frequently mutated genes in OAML is now known, or whether numerous other main drivers have not been detected in the prior focused mutation studies.…”

New developments in the pathology of malignant lymphoma. A review of the literature published from September 2015–December 2015

“…Choung et al [ 22 ] investigated the presence of t(11;18) API2-MALT1, t(14;18) IgH-MALT1 translocations and chromosomes 3 and 18 aneuploidies in 30 ocular MZL, using fluorescence in situ hybridization (FISH); the t(14;18) IgH-MALT1 translocation was demonstrated in only one case, and the t(11;18) API2-MALT1 translocation was not found; trisomy 3 was observed in three cases, and five cases showed trisomy 18. The translocation-positive case also showed trisomy 18.…”

Long-term monitoring of gastric mucosa-associated lymphoid tissue lymphoma in patients with extra copies of the MALT1 gene

“…Trisomy and tetrasomy 18 are genetic aberrations characterized by the presence of one or two additional copies of chromosome 18 within a subset or in the entirety of cellular components. This genomic anomaly is a prevalent karyotypic irregularity in extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT lymphoma), which is a type of lymphoma that originates from mucosa-associated lymphoid tissue in various organs, including the stomach, lungs, eyes, and thyroid 1 – 5 . Trisomy and tetrasomy 18 are typically diagnosed by fluorescence in situ hybridization (FISH) analysis employing centromere-specific probes targeted to chromosome 18 or, alternatively, via array comparative genomic hybridization or cytogenetic analysis (G-banding).…”