Case series of three patients with hereditary diffuse gastric cancer in a single family: Three case reports and review of literature

被引：5

作者：

Hirakawa, Masahiro ^{[1
,2
]}

Takada, Kohichi ^{[1
]}

Sato, Masanori ^{[1
]}

Fujita, Chisa ^{[1
]}

Hayasaka, Naotaka ^{[1
]}

Nobuoka, Takayuki ^{[3
]}

Sugita, Shintaro ^{[4
]}

Ishikawa, Aki ^{[5
]}

Mizukami, Miyako ^{[5
]}

Ohnuma, Hiroyuki ^{[1
]}

Murase, Kazuyuki ^{[1
]}

Miyanishi, Koji ^{[1
]}

Kobune, Masayoshi ^{[6
]}

Takemasa, Ichiro ^{[3
]}

Hasegawa, Tadashi ^{[4
]}

Sakurai, Akihiro ^{[5
]}

Kato, Junji ^{[1
]}

机构：

[1] Sapporo Med Univ, Dept Med Oncol, Sch Med, Sapporo, Hokkaido 0608556, Japan

[2] Natl Hosp Org, Dept Gastroenterol, Hokkaido Canc Ctr, Sapporo, Hokkaido 0030804, Japan

[3] Sapporo Med Univ, Sch Med, Dept Surg Surg Oncol & Sci, Sapporo, Hokkaido 0608556, Japan

[4] Sapporo Med Univ, Dept Surg Pathol, Sch Med, Sapporo, Hokkaido 0608556, Japan

[5] Sapporo Med Univ, Dept Med Genet, Sch Med, Sapporo, Hokkaido 0608556, Japan

[6] Sapporo Med Univ, Dept Hematol, Sch Med, Sapporo, Hokkaido 0608556, Japan

来源：

WORLD JOURNAL OF GASTROENTEROLOGY | 2020年 / 26卷 / 42期

关键词：

Hereditary diffuse gastric cancer; Signet ring cell carcinoma; CDH1; E-cadherin; Endoscopic findings; Case report; CADHERIN GENE CDH1; GERMLINE MUTATIONS; MAGNIFYING ENDOSCOPY; BREAST-CANCER; DIAGNOSIS; SURVEILLANCE; CRITERIA; OUTCOMES;

D O I：

10.3748/wjg.v26.i42.6689

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

BACKGROUND Hereditary diffuse gastric cancer (HDGC) is a familial cancer syndrome often associated with germline mutations in the CDH1 gene. However, the frequency of CDH1 mutations is low in patients with HDGC in East Asian countries. Herein, we report three cases of HDGC harboring a missense CDH1 variant, c.1679C>G, from a single Japanese family. CASE SUMMARY A 26-year-old female (Case 1) and a 51-year-old male (father of Case 1), who had a strong family history of gastric cancer, were diagnosed with advanced diffuse gastric cancer. After genetic counselling, a 25-year-old younger brother of Case 1 underwent surveillance esophagogastroduodenoscopy that detected small signet ring cell carcinoma foci as multiple pale lesions in the gastric mucosa. Genetic analysis revealed a CDH1 c.1679C>G variant in all three patients. CONCLUSION It is important for individuals suspected of having HDGC to be actively offered genetics evaluation. This report will contribute to an increased awareness of HDGC.

引用

页码：6689 / 6697

页数：10

共 32 条

[1] CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study [J].

Benusiglio, Patrick R. ;

Malka, David ;

Rouleau, Etienne ;

De Pauw, Antoine ;

Buecher, Bruno ;

Nogues, Catherine ;

Fourme, Emmanuelle ;

Colas, Chrystelle ;

Coulet, Florence ;

Warcoin, Mathilde ;

Grandjouan, Sophie ;

Sezeur, Alain ;

Laurent-Puig, Pierre ;

Moliere, Diane ;

Tlemsani, Camille ;

Di Maria, Marina ;

Byrde, Veronique ;

Delaloge, Suzette ;

Blayau, Martine ;

Caron, Olivier .

JOURNAL OF MEDICAL GENETICS, 2013, 50 (07) :486-489

[2] Germline E-cadherin mutations in hereditary diffuse gastric cancer: assessment of 42 new families and review of genetic screening criteria [J].

Brooks-Wilson, AR ;

Kaurah, P ;

Suriano, G ;

Leach, S ;

Senz, J ;

Grehan, N ;

Butterfield, YSN ;

Jeyes, J ;

Schinas, J ;

Bacani, J ;

Kelsey, M ;

Ferreira, P ;

MacGillivray, B ;

Macleod, P ;

Micek, M ;

Ford, J ;

Foulkes, W ;

Australie, K ;

Greenberg, C ;

LaPointe, M ;

Gilpin, C ;

Nikkel, S ;

Gilchrist, D ;

Hughes, R ;

Jackson, CE ;

Monaghan, KG ;

Oliveira, MJ ;

Seruca, R ;

Gallinger, S ;

Caldas, C ;

Huntsman, D .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (07) :508-517

[3] Estimating the global cancer incidence and mortality in 2018: GLOBOCAN sources and methods [J].

Ferlay, J. ;

Colombet, M. ;

Soerjomataram, I. ;

Mathers, C. ;

Parkin, D. M. ;

Pineros, M. ;

Znaor, A. ;

Bray, F. .

INTERNATIONAL JOURNAL OF CANCER, 2019, 144 (08) :1941-1953

[4] Genetic analysis of a case of Helicobacter pylori-uninfected intramucosal gastric cancer in a family with hereditary diffuse gastric cancer [J].

Funakoshi, Taro ;

Miyamoto, Shin'ichi ;

Kakiuchi, Nobuyuki ;

Nikaido, Mitsuhiro ;

Setoyama, Takeshi ;

Yokoyama, Akira ;

Horimatsu, Takahiro ;

Yamada, Atsushi ;

Torishima, Masako ;

Kosugi, Shinji ;

Yamada, Hidetaka ;

Sugimura, Haruhiko ;

Haga, Hironori ;

Sakai, Yoshiharu ;

Ogawa, Seishi ;

Seno, Hiroshi ;

Muto, Manabu ;

Chiba, Tsutomu .

GASTRIC CANCER, 2019, 22 (04) :892-898

[5] E-cadherin germline mutations in familial gastric cancer [J].

Guilford, P ;

Hopkins, J ;

Harraway, J ;

McLeod, M ;

McLeod, N ;

Harawira, P ;

Taite, H ;

Scoular, R ;

Miller, A ;

Reeve, AE .

NATURE, 1998, 392 (6674) :402-405

[6] Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients [J].

Hueneburg, Robert ;

Marwitz, Tim ;

van Heteren, Peer ;

Weismueller, Tobias J. ;

Trebicka, Jonel ;

Adam, Ronja ;

Aretz, Stefan ;

Bouza, Alberto Perez ;

Pantelis, Dimitrios ;

Kalff, Joerg C. ;

Nattermann, Jacob ;

Strassburg, Cristian P. .

ENDOSCOPY INTERNATIONAL OPEN, 2016, 4 (12) :E1305-E1310

[7] Two independent families with strongly suspected hereditary diffuse gastric cancer based on the probands' endoscopic findings [J].

Iwaizumi, Moriya ;

Yamada, Hidetaka ;

Fukue, Misaki ;

Maruyama, Yasuhiko ;

Sonoda, Ayano ;

Sugimoto, Mitsushige ;

Koda, Kenji ;

Kushima, Ryoji ;

Maekawa, Masato ;

Sugimura, Haruhiko .

CLINICAL JOURNAL OF GASTROENTEROLOGY, 2020, 13 (05) :754-758

[8] The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea [J].

Kim, HC ;

Wheeler, JMD ;

Kim, JC ;

Ilyas, M ;

Beck, NE ;

Kim, BS ;

Park, KC ;

Bodmer, WF .

GUT, 2000, 47 (02) :262-267

[9] Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance [J].

Lim, Yean Cheant ;

di Pietro, Massimiliano ;

O'Donovan, Maria ;

Richardson, Susan ;

Debiram, Irene ;

Dwerryhouse, Susan ;

Hardwick, Richard H. ;

Tischkowitz, Marc ;

Caldas, Carlos ;

Ragunath, Krish ;

Fitzgerald, Rebecca C. .

GASTROINTESTINAL ENDOSCOPY, 2014, 80 (01) :78-87

[10] CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment [J].

Luo, Wenyi ;

Fedda, Faysal ;

Lynch, Patrick ;

Tan, Dongfeng .

FRONTIERS IN PHARMACOLOGY, 2018, 9

← 1 2 3 4 →