Linitis plastica primary prevention

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hadeel Maksoud M.D.[2]

Overview

An effective measure for the primary prevention of hereditary diffuse gastric adenocarcinoma includes prophylactic gastrectomy in individuals who test positive for CDH1 gene mutations.Genetic testing can be carried out in those who have family history of hereditary diffuse gastric adenocarcinoma. The risk for developing gastric cancer is high enough to warrant prophylactic gastrectomy in these patients.

Primary Prevention

Genetic testing

  • CDH1 mutation is detected in 15 - 50 percent of those with hereditary diffuse gastric adenocarcinoma.[1][2][3]
  • The risk of developing diffuse gastric adenocarcinoma in an individual with CDH1 mutation is 70 percent in men and up to 56 percent in women.
  • In 2015, the IGCLC (International Gastric Cancer Linkage Consortium) established criteria for CDH1 mutation testing. A blood or saliva sample is analyzed. Individuals who fall into any of these criteria are candidates for genetic testing:[4]

References

  1. Pandalai PK, Lauwers GY, Chung DC, Patel D, Yoon SS (2011). "Prophylactic total gastrectomy for individuals with germline CDH1 mutation". Surgery. 149 (3): 347–55. doi:10.1016/j.surg.2010.07.005. PMID 20719348.
  2. Chun YS, Lindor NM, Smyrk TC, Petersen BT, Burgart LJ, Guilford PJ, Donohue JH (2001). "Germline E-cadherin gene mutations: is prophylactic total gastrectomy indicated?". Cancer. 92 (1): 181–7. PMID 11443625.
  3. Norton JA, Ham CM, Van Dam J, Jeffrey RB, Longacre TA, Huntsman DG, Chun N, Kurian AW, Ford JM (2007). "CDH1 truncating mutations in the E-cadherin gene: an indication for total gastrectomy to treat hereditary diffuse gastric cancer". Ann. Surg. 245 (6): 873–9. doi:10.1097/01.sla.0000254370.29893.e4. PMC 1876967. PMID 17522512.
  4. van der Post RS, Vogelaar IP, Carneiro F, Guilford P, Huntsman D, Hoogerbrugge N, Caldas C, Schreiber KE, Hardwick RH, Ausems MG, Bardram L, Benusiglio PR, Bisseling TM, Blair V, Bleiker E, Boussioutas A, Cats A, Coit D, DeGregorio L, Figueiredo J, Ford JM, Heijkoop E, Hermens R, Humar B, Kaurah P, Keller G, Lai J, Ligtenberg MJ, O'Donovan M, Oliveira C, Pinheiro H, Ragunath K, Rasenberg E, Richardson S, Roviello F, Schackert H, Seruca R, Taylor A, Ter Huurne A, Tischkowitz M, Joe ST, van Dijck B, van Grieken NC, van Hillegersberg R, van Sandick JW, Vehof R, van Krieken JH, Fitzgerald RC (2015). "Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers". J. Med. Genet. 52 (6): 361–74. doi:10.1136/jmedgenet-2015-103094. PMC 4453626. PMID 25979631.