Clinical implications of CTNNA1 germline mutations in asymptomatic carriers

被引：27

作者：

Benusiglio, Patrick R. ^{[1
,2
]}

Colas, Chrystelle ^{[1
,2
,3
]}

Guillerm, Erell ^{[4
]}

Canard, Axelle ^{[5
]}

Delhomelle, Helene ^{[2
]}

Warcoin, Mathilde ^{[1
]}

Bellanger, Jerome ^{[2
,6
]}

Eyries, Melanie ^{[4
]}

Zizi, Mohamed ^{[4
]}

Netter, Jeanne ^{[2
]}

Soubrier, Florent ^{[4
,7
]}

Parc, Yann ^{[2
,7
]}

Mourregot, Anne ^{[8
]}

Gonzalez, Aurelie Maran ^{[9
]}

Cusin, Veronica ^{[1
,10
]}

Denis, Jerome A. ^{[4
,7
,11
]}

Coupier, Isabelle ^{[12
]}

Svrcek, Magali ^{[5
,7
]}

Coulet, Florence ^{[4
,7
]}

机构：

[1] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Unite Fonct Oncogenet,Consultat Oncogenet, F-75013 Paris, France

[2] Hop St Antoine, AP HP, Serv Chirurg Gen & Digest, F-75012 Paris, France

[3] Inst Curie, Serv Genet, F-75005 Paris, France

[4] Grp Hosp Pitie Salpetriere, AP HP, Dept Genet, Lab Oncogenet,Unite Fonct Oncogenet, F-75013 Paris, France

[5] Hop St Antoine, AP HP, Serv Anat & Cytol Pathol, F-75012 Paris, France

[6] Hop St Antoine, AP HP, Serv Gastroenterol & Nutr, F-75012 Paris, France

[7] Sorbonne Univ, Fac Med, F-75013 Paris, France

[8] ICM, Dept Chirurg Oncol, Montpellier, France

[9] ICM, Serv Anat Pathol, Montpellier, France

[10] Hop Prive Peupliers, Inst Cancerol, Paris, France

[11] Grp Hosp Pitie Salpetriere, AP HP, Serv Biochim Endocrinienne & Oncol, F-75013 Paris, France

[12] CHU Montpellier, Serv Genet, Unite Oncogenet, Montpellier, France

来源：

GASTRIC CANCER | 2019年 / 22卷 / 04期

关键词：

Diffuse gastric cancer; CDH1; CTNNA1; Signet-ring cell; Hereditary cancer; DIFFUSE GASTRIC-CANCER; TESTING CRITERIA; E-CADHERIN; CDH1; GUIDELINES; ALPHA;

D O I：

10.1007/s10120-018-00907-7

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in an asymptomatic carrier after a normal upper endoscopy. Diffuse gastric cancer foci with loss of catenin alpha-1 expression were seen in the resected tissue, suggesting that CTNNA1 and CDH1 germline mutations behave in a similar manner. Life-changing prophylactic total gastrectomy should therefore also be considered in CTNNA1 mutation carriers.

引用

页码：899 / 903

页数：5

共 13 条

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