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

[1] Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation [J].

Benusiglio, Patrick R. ;

Colas, Chystelle ;

Rouleau, Etienne ;

Uhrhammer, Nancy ;

Romero, Pierre ;

Remenieras, Audrey ;

Moretta, Jessica ;

Wang, Qing ;

De Pauw, Antoine ;

Buecher, Bruno ;

Stoppa-Lyonnet, Dominique ;

Mouret-Fourme, Emmanuelle ;

Nogues, Catherine ;

Di Maria, Marina ;

Tlemsani, Camille ;

Warcoin, Mathilde ;

Grandjouan, Sophie ;

Malka, David ;

Caron, Olivier ;

Blayau, Martine .

JOURNAL OF MEDICAL GENETICS, 2015, 52 (08) :563-565

[2] E-catenin is a candidate tumor suppressor for the development of E-cadherin-expressing lobular-type breast cancer [J].

de Groot, Jolien S. ;

Ratze, Max A. K. ;

van Amersfoort, Miranda ;

Eisemann, Tanja ;

Vlug, Eva J. ;

Niklaas, Mijanou T. ;

Chin, Suet-Feung ;

Caldas, Carlos ;

van Diest, Paul J. ;

Jonkers, Jos ;

de Rooij, Johan ;

Derksen, Patrick W. B. .

JOURNAL OF PATHOLOGY, 2018, 245 (04) :456-467

[3] Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research [J].

Fitzgerald, Rebecca C. ;

Hardwick, Richard ;

Huntsman, David ;

Carneiro, Fatima ;

Guilford, Parry ;

Blair, Vanessa ;

Chung, Daniel C. ;

Norton, Jeff ;

Ragunath, Krishnadath ;

Van Krieken, J. Han ;

Dwerryhouse, Sarah ;

Caldas, Carlos .

JOURNAL OF MEDICAL GENETICS, 2010, 47 (07) :436-444

[4] Hereditary Diffuse Gastric Cancer Syndrome CDH1 Mutations and Beyond [J].

Hansford, Samantha ;

Kaurah, Pardeep ;

Li-Chang, Hector ;

Woo, Michelle ;

Senz, Janine ;

Pinheiro, Hugo ;

Schrader, Kasmintan A. ;

Schaeffer, David F. ;

Shumansky, Karey ;

Zogopoulos, George ;

Santos, Teresa Almeida ;

Claro, Isabel ;

Carvalho, Joana ;

Nielsen, Cydney ;

Padilla, Sarah ;

Lum, Amy ;

Talhouk, Aline ;

Baker-Lange, Katie ;

Richardson, Sue ;

Lewis, Ivy ;

Lindor, Noralane M. ;

Pennell, Erin ;

MacMillan, Andree ;

Fernandez, Bridget ;

Keller, Gisella ;

Lynch, Henry ;

Shah, Sohrab P. ;

Guilford, Parry ;

Gallinger, Steven ;

Corso, Giovanni ;

Roviello, Franco ;

Caldas, Carlos ;

Oliveira, Carla ;

Pharoah, Paul D. P. ;

Huntsman, David G. .

JAMA ONCOLOGY, 2015, 1 (01) :23-32

[5] 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

[6] An α-E-catenin (CTNNA1) mutation in hereditary diffuse gastric cancer [J].

Majewski, Ian J. ;

Kluijt, Irma ;

Cats, Annemieke ;

Scerri, Thomas S. ;

de Jong, Daphne ;

Kluin, Roelof J. C. ;

Hansford, Samantha ;

Hogervorst, Frans B. L. ;

Bosma, Astrid J. ;

Hofland, Ingrid ;

Winter, Marcel ;

Huntsman, David ;

Jonkers, Jos ;

Bahlo, Melanie ;

Bernards, Rene .

JOURNAL OF PATHOLOGY, 2013, 229 (04) :621-629

[7] Comparative study of endoscopic surveillance in hereditary diffuse gastric cancer according to CDH1 mutation status [J].

Mi, Emma Z. ;

Mi, Ella Z. ;

di Pietro, Massimiliano ;

O'Donovan, Maria ;

Hardwick, Richard H. ;

Richardson, Susan ;

Ziauddeen, Hisham ;

Fletcher, Paul C. ;

Caldas, Carlos ;

Tischkowitz, Marc ;

Ragunath, Krish ;

Fitzgerald, Rebecca C. .

GASTROINTESTINAL ENDOSCOPY, 2018, 87 (02) :408-418

[8] Risk-reducing total gastrectomy for germline mutations in E-cadherin (CDH1): Pathologic findings with clinical implications [J].

Rogers, William M. ;

Dobo, Erika ;

Norton, Jeffrey A. ;

Van Dam, Jacques ;

Jeffrey, R. Brooke ;

Huntsman, David G. ;

Kingham, Kerry ;

Chun, Nicki ;

Ford, James M. ;

Longacre, Teri A. .

AMERICAN JOURNAL OF SURGICAL PATHOLOGY, 2008, 32A (06) :799-809

[9] Abnormal expression of E-cadherin in early gastric carcinoma -: Its relationship with macroscopic growth patterns and catenin α and β [J].

Song, SY ;

Kim, S ;

Kim, DS ;

Son, HJ ;

Rhee, JC ;

Kim, YI .

JOURNAL OF CLINICAL GASTROENTEROLOGY, 2004, 38 (03) :252-259

[10] Accuracy of Hereditary Diffuse Gastric Cancer Testing Criteria and Outcomes in Patients With a Germline Mutation in CDH1 [J].

van der Post, Rachel S. ;

Vogelaar, Ingrid P. ;

Manders, Peggy ;

van der Kolk, Lizet E. ;

Cats, Annemieke ;

van Hest, Liselotte P. ;

Sijmons, Rolf ;

Aalfs, Cora M. ;

Ausems, Margreet G. E. M. ;

Garcia, Encarna B. Gomez ;

Wagner, Anja ;

Hes, Frederik J. ;

Arts, Neeltje ;

Mensenkamp, Arjen R. ;

van Krieken, J. Han ;

Hoogerbrugge, Nicoline ;

Ligtenberg, Marjolijn J. L. .

GASTROENTEROLOGY, 2015, 149 (04) :897-U578

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