Oncotarget

Case Reports:

Identification and characterization of a novel adenomatous polyposis coli mutation in adult pancreatoblastoma

Shigeo Yamaguchi, Tomoaki Fujii, Yuki Izumi, Yuki Fukumura, Min Han, Hideki Yamaguchi, Tomomi Akita, Chikamasa Yamashita, Shunsuke Kato _ and Takao Sekiya

PDF  |  HTML  |  Supplementary Files  |  How to cite  |  Order a Reprint

Oncotarget. 2018; 9:10818-10827. https://doi.org/10.18632/oncotarget.24017

Metrics: PDF 839 views  |   HTML 1552 views  |   ?  


Abstract

Shigeo Yamaguchi1,*, Tomoaki Fujii2,*, Yuki Izumi3,*, Yuki Fukumura4, Min Han1, Hideki Yamaguchi5, Tomomi Akita3,6, Chikamasa Yamashita3,6, Shunsuke Kato1,7 and Takao Sekiya2

1Department of Clinical Oncology, Juntendo University Graduate School of Medicine, Hongo, Bunkyo-ku, Tokyo, Japan

2Department of Cancer Genome Research, Sasaki Institute, Sasaki Foundation, Kandasurugadai, Chiyoda-ku, Tokyo, Japan

3Department of Pharmaceutics and Drug Delivery, Faculty of Pharmaceutical Sciences, Tokyo University of Science, Yamazaki, Noda, Chiba, Japan

4Department of Human Pathology, Faculty of Medicine, Juntendo University, Hongo, Bunkyo-ku, Tokyo, Japan

5Department of Cancer Cell Research, Sasaki Institute, Sasaki Foundation, Kandasurugadai, Chiyoda-ku, Tokyo, Japan

6Fusion of Regenerative Medicine with DDS, Research Institute for Science and Technology, Tokyo University of Science, Yamazaki, Noda, Chiba, Japan

7Division of Translational Genomics for Intractable Diseases, Intractable Diseases Research Center, Juntendo University, Hongo, Bunkyo-ku, Tokyo, Japan

*These authors contributed equally to this work

Correspondence to:

Shunsuke Kato, email: katoshun@juntendo.ac.jp

Keywords: next generation sequencing; variant of uncertain significance; pancreatoblastoma; adenomatous polyposis coli; Wnt/β-catenin signaling

Received: September 14, 2017     Accepted: January 02, 2018     Published: January 06, 2018

ABSTRACT

During next generation sequencing (NGS) analysis, many missense mutations were found in a well-known oncogene, many of which were variant of uncertain significance mutations. We recently treated an adult patient with pancreatoblastoma by chemotherapy. Using an NGS cancer panel, we found a previously unreported missense mutation in the 1835 codon of the adenomatous polyposis coli (APC) gene. We also found a heterogeneous mutation in the 1835 codon of the APC gene in the patient’s germline by Sanger sequencing. Although this patient did not have a history of familial adenomatous polyposis, functional analysis suggested the R1835G mutant APC showed attenuated repression of Wnt/β-catenin signaling activity. This is the first report showing a novel APC missense mutation involved in the onset of adult pancreatoblastoma.


Creative Commons License All site content, except where otherwise noted, is licensed under a Creative Commons Attribution 3.0 License.
PII: 24017