Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer

被引：26

作者：

Funakoshi, Taro ^{[1
]}

Miyamoto, Shin'ichi ^{[2
]}

Kakiuchi, Nobuyuki ^{[2
]}

Nikaido, Mitsuhiro ^{[2
]}

Setoyama, Takeshi ^{[3
]}

Yokoyama, Akira ^{[1
]}

Horimatsu, Takahiro ^{[1
]}

Yamada, Atsushi ^{[1
]}

Torishima, Masako ^{[4
]}

Kosugi, Shinji ^{[4
]}

Yamada, Hidetaka ^{[5
]}

Sugimura, Haruhiko ^{[5
]}

Haga, Hironori ^{[6
]}

Sakai, Yoshiharu ^{[7
]}

Ogawa, Seishi ^{[8
]}

Seno, Hiroshi ^{[2
]}

Muto, Manabu ^{[1
]}

Chiba, Tsutomu ^{[9
]}

机构：

[1] Kyoto Univ, Grad Sch Med, Dept Therapeut Oncol, Kyoto, Japan

[2] Kyoto Univ, Grad Sch Med, Dept Gastroenterol & Hepatol, Sakyo Ku, 54 Shogoin Kawahara Cho, Kyoto 6068507, Japan

[3] Osaka Red Cross Hosp, Dept Gastroenterol & Hepatol, Osaka, Japan

[4] Kyoto Univ, Sch Publ Hlth, Dept Med Eth & Med Genet, Kyoto, Japan

[5] Hamamatsu Univ Sch Med, Dept Tumor Pathol, Hamamatsu, Shizuoka, Japan

[6] Kyoto Univ, Grad Sch Med, Dept Diagnost Pathol, Kyoto, Japan

[7] Kyoto Univ, Grad Sch Med, Dept Surg, Kyoto, Japan

[8] Kyoto Univ, Grad Sch Med, Dept Pathol & Tumor Biol, Kyoto, Japan

[9] Kansai Elect Power Hosp, Osaka, Japan

来源：

GASTRIC CANCER | 2019年 / 22卷 / 04期

关键词：

Hereditary diffuse gastric cancer; Helicobacter pylori-uninfected gastric cancer; Signet ring cell carcinoma; CDH1; E-cadherin; E-CADHERIN; LOW-PREVALENCE; MUTATIONS; EPITHELIUM; INFECTION; CELLS;

D O I：

10.1007/s10120-018-00912-w

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 [肿瘤学];

摘要：

Germline mutations in CDH1, encoding E-cadherin, are known to be the causative mechanism of hereditary diffuse gastric cancer (HDGC). We encountered two cases of gastric cancer in a Japanese family with HDGC. A 28-year-old man (Case 1) died of advanced gastric cancer. His younger sister aged 27 (Case 2) was diagnosed with intramucosal signet ring cell carcinoma (SRCC). Both had identical germline CDH1 mutations, but Case 1 was positive for Helicobacter pylori infection, whereas Case 2 was negative. Case 2 underwent total gastrectomy. Whole-exome sequencing of an intramucosal SRCC in Case 2 revealed seven somatic mutations including one in CDH1. The six non-CDH1 mutations were classified as non-driver mutations. Decreased expression of E-cadherin in intramucosal SRCC was confirmed by immunohistochemistry. Our report demonstrated that CDH1 mutation was the only active driver mutation in Helicobacter pylori-uninfected intramucosal SRCC.

引用

页码：892 / 898

页数：7

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