Open Access

Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing

  • Authors:
    • Seok Jae Huh
    • Sung Yong Oh
    • Suee Lee
    • Ji Hyun Lee
    • Sung Hyun Kim
    • Min Kyung Pak
    • Hyo-Jin Kim
  • View Affiliations

  • Published online on: September 8, 2020     https://doi.org/10.3892/ol.2020.12068
  • Article Number: 205
  • Copyright: © Huh et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Extranodal marginal zone lymphoma is a type of low‑grade B‑cell lymphoma that can be classified as a mucosal‑associated lymphoid tissue (MALT) lymphoma. Recently, second‑generation or next‑generation sequencing (NGS), which allows simultaneous sequencing of hundreds to billions of DNA strands, has been a focus of attention and is rapidly being adopted in various fields. In the present study, paraffin‑embedded tissue samples of gastric MALT lymphoma (n=1) and small intestine MALT lymphoma (n=4) were selected, and DNA was extracted from the tissue samples. After performing quality control, NGS was performed using HemaSCAN™, a custom panel of 426 genes, including essential blood cancer genes. NGS revealed single nucleotide variations (SNVs), short insertions and deletions (InDels) and copy number variations (CNVs). These genomic variants were reported as annotated, known or novel variants. An annotated variant, an erb‑b2 receptor tyrosine kinase 2 gene amplification, was observed in one patient. Known and novel variants, including SNVs of SET binding protein 6 (SETBP6), Runt‑related transcription factor 1 and Kelch‑like ECH‑associated protein 1 genes, InDel of the marker of proliferation Ki‑67 gene, and CNVs of the zinc finger protein 703 and NOTCH1 genes, were observed in ≥2 patients. Additionally, InDels with frameshift mutations were identified in the B‑cell lymphoma/leukemia 10, DEAD‑box helicase 3 X‑linked, forkhead box O3 and mucin 2, oligomeric mucus/gel‑forming genes in one patient. Since few NGS studies have been performed on MALT lymphoma, the current results were unable to determine if the different mutations that were identified are ‘actionable’ (that is, potentially responsive to a targeted therapy) Further studies are required to determine the associations between genetic mutations and the development of MALT lymphoma.
View Figures
View References

Related Articles

Journal Cover

November-2020
Volume 20 Issue 5

Print ISSN: 1792-1074
Online ISSN:1792-1082

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Huh SJ, Oh SY, Lee S, Lee JH, Kim SH, Pak MK and Kim H: Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing. Oncol Lett 20: 205, 2020
APA
Huh, S.J., Oh, S.Y., Lee, S., Lee, J.H., Kim, S.H., Pak, M.K., & Kim, H. (2020). Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing. Oncology Letters, 20, 205. https://doi.org/10.3892/ol.2020.12068
MLA
Huh, S. J., Oh, S. Y., Lee, S., Lee, J. H., Kim, S. H., Pak, M. K., Kim, H."Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing". Oncology Letters 20.5 (2020): 205.
Chicago
Huh, S. J., Oh, S. Y., Lee, S., Lee, J. H., Kim, S. H., Pak, M. K., Kim, H."Mutational analysis of extranodal marginal zone lymphoma using next generation sequencing". Oncology Letters 20, no. 5 (2020): 205. https://doi.org/10.3892/ol.2020.12068