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

被引：26

作者：

Kubota, Yoshimasa ^{[1
]}

Kawakami, Hiroshi ^{[1
]}

Natsuizaka, Mitsuteru ^{[1
]}

Kawakubo, Kazumichi ^{[1
]}

Marukawa, Katsuji ^{[2
]}

Kudo, Taiki ^{[1
]}

Abe, Yoko ^{[1
]}

Kubo, Kimitoshi ^{[1
]}

Kuwatani, Masaki ^{[1
]}

Hatanaka, Yutaka ^{[2
]}

Mitsuhashi, Tomoko ^{[2
]}

Matsuno, Yoshihiro ^{[2
]}

Sakamoto, Naoya ^{[1
]}

机构：

[1] Hokkaido Univ, Dept Gastroenterol & Hepatol, Grad Sch Med, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Hokkaido Univ Hosp, Dept Surg Pathol, Sapporo, Hokkaido 060, Japan

来源：

JOURNAL OF GASTROENTEROLOGY | 2015年 / 50卷 / 02期

关键词：

CTNNB1; Solid-pseudopapillary neoplasms of the pancreas; Endoscopic ultrasound-guided fine-needle aspiration (EUS-FNA); Next-generation sequencing; BETA-CATENIN GENE; TUMOR; DIAGNOSIS; DEREGULATION; ACTIVATION; REVEALS; ORIGIN; CANCER;

D O I：

10.1007/s00535-014-0954-y

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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

引用

页码：203 / 210

页数：8

共 38 条

[1] Solid-pseudopapillary tumors of the pancreas are genetically distinct from pancreatic ductal adenocarcinomas and almost always harbor β-catenin mutations [J].