scholarly journals HEREDITARY DIFFUSE GASTRIC CANCER: GENETIC ASPECTS AND PROPHYLACTIC TOTAL GASTRECTOMY

2018 ◽  
Vol 17 (4) ◽  
pp. 48-52
Author(s):  
L. N. Lyubchenko ◽  
M. G. Filippova ◽  
O. A. Anurova ◽  
P. B. Nazliev ◽  
I. S. Stilidi

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.

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 4500-4500 ◽  
Author(s):  
H. T. Lynch ◽  
C. Caldas ◽  
D. Wirtzfeld ◽  
C. Vaccaro ◽  
W. Rubinstein ◽  
...  

4500 Background: Hereditary diffuse gastric cancer (HDGC) is a potentially fatal disease that occurs due to mutations in the E- cadherin (CDH1) gene, as discovered in 1998. Its penetrance ranges between 70–80%. Its morbidity and mortality can be altered favorably through genetic counseling, germline mutation testing, and highly-targeted management that includes prophylactic total gastrectomy. Lobular breast cancer has been identified as an integral lesion in HDGC. Methods: This international collaborative group on HDGC is comprised of 56 mutation-positive families, which is the world’s largest resource of such families. Cancer diagnoses were verified with pathology slides/tissue block review when possible, or reports. Genetic counseling covering the pros and cons of mutation testing, screening and its limitations, and the option of prophylactic total gastrectomy was provided. Results: Findings on 56 HDGC mutation-positive families show carrier testing to have been performed on 267 individuals, of which 123 were CDH1 mutation positive. Prophylactic gastrectomies were performed on 14 families involving 50 individuals. Occult cancer was diagnosed in 31 (31/39=79.5%; results are pending on the remaining 11), based upon pathology and verbal reports. Five individuals underwent prophylactic gastrectomy prior to genetic counseling, 3 of whom later tested negative for mutations. In one of these remarkable HDGC families, 11 first cousins who tested positive for the CDH1 mutation underwent prophylactic total gastrectomy. On a post-surgery questionnaire, they each stated that the decision for the prophylactic procedure was the “right one” for them. In each case, a parent had died of HDGC sequelae, adding to the cousins’ acceptance of DNA testing and surgery. They considered their post-operative nutritional programs to have been acceptable. Conclusion: HDGC and its life-threatening sequelae were significantly ameliorated in CDH1 mutation carriers through total prophylactic gastrectomy in patients at enormous lifetime risk for HDGC. Decision for mutation testing and surgery may be more acceptable through intensive education in concert with a compassionate management team. No significant financial relationships to disclose.


2017 ◽  
Vol 266 (6) ◽  
pp. 1006-1012 ◽  
Author(s):  
Vivian E. Strong ◽  
Sepideh Gholami ◽  
Manish A. Shah ◽  
Laura H. Tang ◽  
Yelena Y. Janjigian ◽  
...  

2011 ◽  
Vol 18 (9) ◽  
pp. 2594-2598 ◽  
Author(s):  
Yijun Chen ◽  
Kerry Kingham ◽  
James M. Ford ◽  
James Rosing ◽  
Jacques Van Dam ◽  
...  

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