使用内镜超声引导下细针穿刺和下一代深度测序对胰腺实性假乳头状肿瘤进行CTNNB1突变分析。
CTNNB1 mutational analysis of solid-pseudopapillary neoplasms of the pancreas using endoscopic ultrasound-guided fine-needle aspiration and next-generation deep sequencing.
作者信息
Kubota Yoshimasa, Kawakami Hiroshi, Natsuizaka Mitsuteru, Kawakubo Kazumichi, Marukawa Katsuji, Kudo Taiki, Abe Yoko, Kubo Kimitoshi, Kuwatani Masaki, Hatanaka Yutaka, Mitsuhashi Tomoko, Matsuno Yoshihiro, Sakamoto Naoya
机构信息
Department of Gastroenterology and Hepatology, Hokkaido University Graduate School of Medicine, Kita-15, Nishi-7, Kita-ku, Sapporo, 060-8638, Japan.
出版信息
J Gastroenterol. 2015 Feb;50(2):203-10. doi: 10.1007/s00535-014-0954-y. Epub 2014 Apr 4.
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.
背景
实性假乳头状肿瘤（SPN）是一种罕见的胰腺肿瘤，经常在钙黏蛋白相关蛋白β1（CTNNB1）基因的第3外显子中发生突变。在此，我们通过使用下一代测序（NGS）进行深度测序来分析SPN组织中的CTNNB1突变。
方法
通过NGS分析来自7个SPN和31个其他胰腺病变（16个胰腺导管腺癌（PDAC）、11个胰腺神经内分泌肿瘤（PNET）、1个腺泡细胞癌、1个自身免疫性胰腺炎病变和2个局灶性胰腺炎病变）的组织样本中CTNNB1第3外显子的突变情况。
结果
在所有7个SPN以及11个PNET样本中的1个样本中均观察到CTNNB1第3外显子的单碱基对错义突变。然而，在16个PDAC或其他4例胰腺疾病病例的组织样本中均未观察到突变。CTNNB1的变异频率范围为5.4%至48.8%。
结论
通过NGS对CTNNB1进行突变分析是可行的，并且使用通过内镜超声引导下细针穿刺获得的SPN样本即可实现。
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