Identification and characterization of a novel adenomatous polyposis coli mutation in adult pancreatoblastoma
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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
Shunsuke Kato, email: [email protected]
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
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.
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