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

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/?-catenin signaling activity. This is the first report showing a novel APC missense mutation involved in the onset of adult pancreatoblastoma.

SUBMITTER: Yamaguchi S

PROVIDER: S-EPMC5828192 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature

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

Yamaguchi Shigeo S Fujii Tomoaki T Izumi Yuki Y Fukumura Yuki Y Han Min M Yamaguchi Hideki H Akita Tomomi T Yamashita Chikamasa C Kato Shunsuke S Sekiya Takao T

Oncotarget 20180106 12

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 patie ...[more]

PMID: 29535845

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