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CTNNB1 mutational analysis of solid-pseudopapillary neoplasms of the pancreas using endoscopic ultrasound-guided fine-needle aspiration and next-generation deep sequencing

  • Original Article—Liver, Pancreas, and Biliary Tract
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Abstract

Background

Solid-pseudopapillary neoplasm (SPN), a rare neoplasm of the pancreas, frequently harbors mutations in exon 3 of the cadherin-associated protein beta 1 (CTNNB1) gene. Here, we analyzed SPN tissue for CTNNB1 mutations by deep sequencing using next-generation sequencing (NGS).

Methods

Tissue samples from 7 SPNs and 31 other pancreatic lesions (16 pancreatic ductal adenocarcinomas (PDAC), 11 pancreatic neuroendocrine tumors (PNET), 1 acinar cell carcinoma, 1 autoimmune pancreatitis lesion, and 2 focal pancreatitis lesions) were analyzed by NGS for mutations in exon 3 of CTNNB1.

Results

A single-base-pair missense mutations in exon 3 of CTNNB1 was observed in all 7 SPNs and in 1 of 11 PNET samples. However, mutations were not observed in the tissue samples of any of the 16 PDAC or other four pancreatic disease cases. The variant frequency of CTNNB1 ranged from 5.4 to 48.8 %.

Conclusions

Mutational analysis of CTNNB1 by NGS is feasible and was achieved using SPN samples obtained by endoscopic ultrasound-guided fine needle aspiration.

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Conflict of interest

The authors declare that they have no conflict of interest.

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Authors and Affiliations

  1. Department of Gastroenterology and Hepatology, Hokkaido University Graduate School of Medicine, Kita-15, Nishi-7, Kita-ku, Sapporo, 060-8638, Japan

    Yoshimasa Kubota, Hiroshi Kawakami, Mitsuteru Natsuizaka, Kazumichi Kawakubo, Taiki Kudo, Yoko Abe, Kimitoshi Kubo, Masaki Kuwatani & Naoya Sakamoto

  2. Department of Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan

    Katsuji Marukawa, Yutaka Hatanaka, Tomoko Mitsuhashi & Yoshihiro Matsuno

Authors
  1. Yoshimasa Kubota
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  2. Hiroshi Kawakami
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  3. Mitsuteru Natsuizaka
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  4. Kazumichi Kawakubo
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  13. Naoya Sakamoto
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Correspondence to Hiroshi Kawakami.

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Kubota, Y., Kawakami, H., Natsuizaka, M. et al. CTNNB1 mutational analysis of solid-pseudopapillary neoplasms of the pancreas using endoscopic ultrasound-guided fine-needle aspiration and next-generation deep sequencing. J Gastroenterol 50, 203–210 (2015). https://doi.org/10.1007/s00535-014-0954-y

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  • DOI: https://doi.org/10.1007/s00535-014-0954-y

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