2360 - Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing

Background

Extranodal marginal zone lymphoma is a type of low-grade B-cell lymphoma and may be classified as mucosal-associated lymphoid tissue (MALT) lymphoma. MALT lymphoma is most common in stomach in Korea. The etiologic factors are inflammation caused by chronic infection, autoimmune disease and genetic variation. Identifying various somatic mutations is an essential process in precision medicine, where high throughput sequencing is used to accurately detect genetic changes. Nucleotide sequencing techniques are basically based on the Sanger method, but recently second generation or next generation sequencing (NGS) that can sequence millions or billions of DNA strands simultaneously in parallel unlike the sanger sequencing is rapidly spreading.

Methods

One gastric MALT lymphoma and four small intestine MLAT lymphomas were selected and studied using tissue samples embedded in their paraffin. DNA was extracted from tissue samples and quality control was performed. NGS was performed using HemaSCAN^TM, a custom panel for 426 genes including essential genes for blood cancer.

Results

The results of NGS revealed the following genomic variants; single nucleotide variations (SNVs), insertions and deletions (InDels) and copy number variations (CNVs). And these genomic variants are reported as annotated, known, and novel variants. Of the annotated variant, ERBB2 gene amplification was confirmed in one patient. Of the known and novel variants, SNV of SETBP6, RUNX1 and KEAP1 gene, InDel of MKI67 gene, CNV of ZNF703 and NOTCH1 gene were confirmed in two or more patients. And InDel with frameshift in BCL10, DDX3X, FOXO3 and MUC2 genes was identified in one patient.

Conclusions

Since there are few NGS studies on MALT lymphoma, the various mutations identified in this study cannot be said to be “inactionable”. More studies are needed to determine the association of various genetic mutations with the development of MALT lymphoma.

Clinical trial identification

Editorial acknowledgement

Seok Jae Huh¹, Sung Yong Oh¹, Suee Lee¹, Ji Hyun Lee¹, Sung Hyun Kim¹, Min Kyung Park², and Hyo-Jin Kim^{1 1}Department of Internal Medicine, Dong-A University Hospital, Busan, Republic of Korea, ²Department of Pathology, Dong-A University College of Medicine, Busan, Republic of Korea.

Legal entity responsible for the study

The author.

Funding

Has not received any funding.

Disclosure

The author has declared no conflicts of interest.