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Int J Clin Exp Pathol 2012;5(5):436-441

Original Article
Mutation analysis of NF-κB signal pathway-related genes in ocular MALT lymphoma

Fang Liu, Kennosuke Karube, Harumi Kato, Kotaro Arita, Noriaki Yoshida, Kiyoko Yamamoto, Shinobu Tsuzuki, Wonseog Kim, Young-Hyeh Ko,
Masao Seto

Division of Molecular Medicine, Aichi Cancer Center Research Institute, Nagoya, Japan; Department of Cancer Genetics, Department of
Hematology and Oncology, Nagoya University Graduate School of Medicine, Nagoya, Japan; Department of Hematology and Oncology,
Departmentof Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Received April 28, 2012; accepted May 19, 2012; Epub May 23, 2012; Published June 30, 2012

Abstract: Constitutive nuclear factor-kappa B (NF-κB) activation has been reported in ocular adnexal lymphoma (OAL). TNFAIP3/A20 is a
“global” inhibitor of NF-κB pathway. We have shown that OAL has preferential loss of the 6q23.3 region where TNFAIP3/A20 exist, which is
suggested to involve in lymphomagenesis of OAL. The mechanisms causing NF-κB activity in OAL remain elusive. Recently, NF-κB canonical
pathway genes including CARD11, CD79B and MYD88 were shown to be frequently mutated in diffuse large B-cell lymphomas. In this study,
we analyzed the mutation status of these genes by direct sequencing in 24 OAL cases including 9 cases with loss of 6q23.3 previously
identified by array comparative genomic hybridization. We showed that genetic alterations of these genes were not found in OAL, a finding
differing from that of most B-cell lymphomas. Genetic or epigenetic alterations in other genes are likely to be relevant in pathogenesis of OAL
case without A20 loss. (IJCEP1204014)

Keywords: Ocular adnexal lymphoma, TNFAIP3 (A20) deletion, NF-κB related gene mutation

Address all correspondence to:
Dr. Masao Seto
Division of Molecular Medicine
Aichi Cancer Center Research Institute
Chikusa-ku, Kanokoden 1-1
Nagoya 464-8681, Japan.
Tel: +81-52-762-6111; Fax: +81-52-764-2982
E-mail: mseto@aichi-cc.jp