HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY
https://doi.org/10.21294/1814-4861-2018-17-4-48-52
Abstract
For patients with an identified germline E-cadherin-1 (CDH1) mutation, prophylactic gastrectomy is the treatment of choice to eliminate the high risk of developing diffuse gastric cancer. The case report describes a rare case of hereditary diffuse gastric cancer (HDGC) associated with CDH1 gene mutation, which is reported in the Russian population for the first time. In 2013, a 28-year- old woman was referred to Clinical Oncogenetics Laboratory with a family history of gastric cancer. Molecular genetic analysis revealed CDH1 gene mutation. The lifetime risk of cancer in mutation positive members is more than 80. Histological examination of gastric biopsy specimens obtained during endoscopy revealed isolated signet ring cells in the lamina propria. Spleenpreserving D2-lymphodissection and total gastrectomy with Roux-en-Y reconstruction with a jejunal reservoir formation were performed at the Abdominal Oncology Surgery Department.
About the Authors
L. N. Lyubchenko
N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
24, Kashirskoye shosse, 115478-Moscow, Russia
MD, DSc, Head of Laboratory of Clinical Oncogenetics, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Author ID (Scopus): 6603827727
M. G. Filippova
N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
24, Kashirskoye shosse, 115478-Moscow, Russia
MD, PhD, Senior Researcher, Laboratory of Clinical Oncogenetics, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
O. A. Anurova
N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
24, Kashirskoye shosse, 115478-Moscow, Russia
PhD, Leading Researcher, Human Pathological Anatomy and Tumor Department, FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
P. B. Nazliev
N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
24, Kashirskoye shosse, 115478-Moscow, Russia
PhD, Senior Researcher, Department of scientific advisory outpatient diagnostic and treatment methods FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
I. S. Stilidi
N.N. Blokhin Medical Research Center of Oncology, Ministry of Health of the Russian Federation
Russian Federation
Russian Federation
24, Kashirskoye shosse, 115478-Moscow, Russia
MD, DSc, Corresponding Member of the Russian Academy of Sciences, professor, Head of FSBI «N.N. Blokhin National Medical Research Center of Oncology» of the Ministry of Health of the Russian Federation
Author ID (Scopus): 6602949492
References
1. Le Vecchia C., Negri E., Franceeschi S., Gentile A. Family history and risk of stomach and colorectal canser. Canser. 1992; 70: 50–58.
2. Caldas C., Carneiro F., Lynch H.T., Yokota J., Wiesner G.L., Powell S.M., Lewis F.R., Huntsman D.G., Pharoah P.D., Jankowski J.A., MacLeod P., Vogelsang H., Keller G., Park K.G., Richards F.M., Maher E.R., Gayther S.A., Oliveira C., Grehan N., Wight D., Seruca R., Roviello F., Ponder B.A., Jackson C.E. Family gastric canser: overview and guidelines for management. J Med Genet. 1999; 36: 873–80.
3. Fitzgerald R.C., Hardwick R., Huntsman D., Carneiro F., Guilford P., Blair V., Chung D.C., Norton J., Ragunath K., Van Krieken J.H., Dwerryhouse S., Caldas C.; International Gastric Cancer Linkage Consortium. Hereditary diffuse gastric cancer: updated consensus guidelines for clinical management and directions for future research. J Med Genet. 2010 Jul; 47(7): 436–44. doi: 10.1136/jmg.2009.074237.
4. Guilford P., Hopkins J., Harraway J., McLeod M., McLeod N., Harawira P., Taite H., Scoular R., Miller A., Reeve A.E. E-cadgerin germline mutations in familiar gastric cancer. Nature. 1998; 392: 402‑405.
5. Corso G., Marrelli D., Pascale V., Vindigni C., Roviello F. Frequency of CDH1 germline mutations in gastric carcinoma coming from high- and lo-risk areas: metanalysis and systematic rewiew of the literature. BMC Canser. 2012; 2: 8.
6. Suriano G., Yew S., Ferreira P., Senz J., Kaurah P., Ford J.M., Longacre T.A., Norton J.A., Chun N., Young S., Oliveira M.J., Macgillivray B., Rao A., Sears D., Jackson C.E., Boyd J., Yee C., Deters C., Pai G.S., Hammond L.S., McGivern B.J., Medgyesy D.,
7. Sartz D., Arun B., Oelschlager B.K., Upton M.P., Neufeld-Kaiser W., Silva O.E., Donenberg T.R., Kooby D.A., Sharma S., Jonsson B.A., Gronberg H., Gallinger S., Seruca R., Lynch H., Huntsman D.G. Characterization of a recurrent germ line mutation of the Ecadherin gene: implications for genetic testing and clinical management. Clin Cancer Res 2005; 11: 5401–9. doi: 10.1158/1078-0432.CCR-05-0247.
8. Kaurah P., MacMillan A., Boyd N., Senz J., De Luca A., Chun N., Suriano G., Zaor S., Van Manen L., Gilpin C., Nikkel S., Connolly-Wilson M., Weissman S., Rubinstein W.S., Sebold C., Greenstein R., Stroop J., Yim D., Panzini B., McKinnon W., Greenblatt M., Wirtzfeld D., Fontaine D., Coit D., Yoon S., Chung D., Lauwers G., Pizzuti A., Vaccaro C., Redal M.A., Oliveira C., Tischkowitz M., Olschwang S., Gallinger S., Lynch H., Green J., Ford J., Pharoah P., Fernandez B., Huntsman D. Founder and recurrent CDH1 mutations in families with hereditary diffuse gastric cancer. JAMA 2007; 297: 2360–72. doi: 10.1001/jama.297.21.2360.
9. Norton J.A., Ham C.M., Jacques Van Dam R., Longacre T.A., Huntsman D.G., Chun N., Ford J.M. CDH1 truncating mutations in the Ecadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer. Ann Surg 2007; 245: 873–9.
10. Jonsson B.A., Bergh A., Stattin P., Emmanuelsson M., Gronberg H. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. Int J Cancer 2002; 98: 838–43.
11. Suriano G., Oliveira C., Ferreira P., Machado J.C., Bordin M.C., De Wever O., Bruyneel E.A., Moguilevsky N., Grehan N., Porter T.R., Richards F.M., Hruban R.H., Roviello F., Huntsman D., Mareel M., Carneiro F., Caldas C., Seruca R. Identification of CDH1 germline missense mutations associated with functional inactivation of the E- cadherin protein in young gastric cancer probands. Hum Mol Genet 2003; 12: 575–82.
12. More H., Humar B., Weber W., Ward R., Christian A., Lintott C., Graziano F., Ruzzo A.M., Acosta E., Boman B., Harlan M., Ferreira P., Seruca R., Suriano G., Guilford P. Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene. Hum Mutat 2007; 28: 203–11. doi: 10.1002/humu.9473.
13. Frebourg T., Oliveira C., Hochain P., Karam R., Manouvrier S., Graziadio C., Vekemans M., Hartmann A., Baert-Desurmont S., Alexandre C., Lejeune Dumoulin S., Marroni C., Martin C., Castedo S., Lovett M., Winston J., Machado J.C., Attié T., Jabs E.W., Cai J., Pellerin P., Triboulet J.P., Scotte M., Le Pessot F., Hedouin A., Carneiro F., Blayau M., Seruca R. Cleft lip/palate and CDH1/E-cadherin mutations in families with hereditary diffuse gastric cancer. J Med Genet 2006; 43: 138–42. doi: 10.1136/jmg.2005.031385.
14. Oliveira C., Senz J., Kaurah P., Pinheiro H., Sanges R., Haegert A., Corso G., Schouten J., Fitzgerald R., Vogelsang H., Keller G., Dwerryhouse S., Grimmer D., Chin S.F., Yang H.K., Jackson C.E., Seruca R., Roviello F., Stupka E., Caldas C., Huntsman D. Germline CDH1 deletions in hereditary diffuse gastric cancer families. Hum Mol Genet. 2009 May 1; 18(9): 1545–55. doi: 10.1093/hmg/ddp046.
15. Humar B., Graziano F., Cascinu S., Catalano V., Ruzzo A.M., Magnani M., Toro T., Burchill T., Futschik M.E., Merriman T., Guilford P. Association of CDH1 haplotypes with susceptibility to sporadic diffuse gastric cancer. Oncogene 2002; 21: 8192–5. doi: 10.1038/sj.onc.1205921.
16. Nasri S., More H., Graziano F., Ruzzo A., Wilson E., Dunbier A., McKinney C., Merriman T., Guilford P., Magnani M., Humar B. A novel diffuse gastric cancer susceptibility variant in E-cadherin (CDH1) intron 2: a case control study in an Italian population. BMC Cancer. 2008 May 15; 8: 138. doi: 10.1186/1471-2407-8-138.
17. Schrader K.A., Masciari S., Boyd N., Wiyrick S., Kaurah P., Senz J., Burke W., Lynch H.T., Garber J.E., Huntsman D.G. Hereditary diffuse gastric cancer: association with lobular breast cancer. Fam Cancer. 2008; 7: 73–82.
18. Berx G., Becker K-F., Hofler H., van Roy F. Mutations of the human E-cadherin (CDH1) gene. Hum Mutat 1998; 12: 226–37.
19. Becker K.F., Reich U., Schott C., Becker I., Berx G., van Roy F., Höfler H. Identification of 11 novel tumor-associated E-cadherin mutations. Hum Mutat 1998; 13: 171–5. doi: 10.1002/(SICI)1098-1004-(1999)13:2<171::AID-HUMU14>3.0.CO;2-Z.
20. Pharoah P.D., Guilford P., Caldas C. Incidence of gastric cancer and breast cancer in CDH1 (E-cadgerin) mutation carries from hereditary diffuse gastric cancer families. Gastroenterology. 2001; 121(6): 1348–53.
21. Tsukanov A.C., Shelygin Iu.A., Kashnikov V.N., Frolov S.A., Liubchenko L.N., Shubin V.P., Karpukhin A.V., Muzaffarova T.A., Pospekhova N.I. Molecular genetic study of hereditary predisposition to diffuse gastric cancer in Russian patients. Vopr Onkol. 2013; 59(5): 580‑4.
22. Seevaratnam R., Coburn N., Cardoso R., Dixon M., Bocicariu A., Helyer L. А systematic review of the indications for genetic testing and prophylactic gastrectomy among patients with hereditary diffuse gastric canser. Gastric Canser. 2012; 15(1): 153–163.
23. Strong V.E., Gholami S., Shah M.A., Tang L.H., Janjigian Y.Y., Schattner M., Selby L.V., Yoon S.S., Salo-Mullen E., Stadler Z.K., Kelsen D., Brennan M.F., Coit D.G. Total Gastrectomy for Hereditary Diffuse Gastric Cancer at a Single Center: Postsurgical Outcomes in 41 Patients. Ann Surg. 2017 Dec; 266(6): 1006–1012. doi: 10.1097/SLA.0000000000002030.
24. Haverkamp L., van der Sluis P.C., Ausems M.G., van der Horst S., Siersema P.D., Ruurda J.P., Offerhaus G.J., van Hillegersberg R. Prophylactic Laparoscopic Total Gastrectomy with Jejunal Pouch Reconstruction in Patients Carrying a CDH1 Germline Mutation. J Gastrointest Surg. 2015 Dec; 19(12): 2120–5. doi: 10.1007/s11605-015-2963-4.
25. Haverkamp L., Weijs T.J., van der Sluis P.C., van der Tweel I., Ruurda J.P., van Hillegersberg R. Laparoscopic total gastrectomy versus open total gastrectomy for cancer: a systematic review and metaanalysis. Surg Endosc. 2013 May; 27(5): 1509–20. doi: 10.1007/s00464-012-2661-1.
26. Chen Y., Kingham K., Ford J.M., Rosing J., Van Dam J., Jeffrey R.B., Longacre T.A., Chun N., Kurian A., Norton J.A. A prospective Study of Total Gastrectomy for CDH1-Positive Hereditary Diffuse Gastric Cancer. Ann Surg Oncol. 2011 Sep; 18(9): 2594–8. doi: 10.1245/s10434-011-1648-9.
27. Blair V., Shaw D., Martin H., Kerr D., Arnold J., Harawira P., MacLeod M., Parry S., Charlton A., Findlay M., Cox B., Guilford P. Hereditary diffuse gastric cancer: diagnosis and management. Cli Gastroenterol Hepatol. 2006; 4: 262–75.
Review
For citations:
Lyubchenko L.N., Filippova M.G., Anurova O.A., Nazliev P.B., Stilidi I.S. HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY. Siberian journal of oncology. 2018;17(4):48-52. https://doi.org/10.21294/1814-4861-2018-17-4-48-52
Views:
2958
Email this article 
