Linitis plastica pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
It is thought that linitis plastica is the result of abnormal molecular pathways that result in defective intracellular adhesions. | |||
It is thought that | |||
==Pathophysiology== | ==Pathophysiology== | ||
*In diffuse type gastric cancer, the cells experience a loss of expression for cell adhesion protein E-cadherin.<ref name="pmid14630673">{{cite journal |vauthors=Graziano F, Humar B, Guilford P |title=The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice |journal=Ann. Oncol. |volume=14 |issue=12 |pages=1705–13 |year=2003 |pmid=14630673 |doi= |url=}}</ref> | |||
*The E-cadherin gene (CDH1) codes for a transmembrane cellular adhesion protein that provides a tail that adheres to other cells. | |||
*The tail interacts with catenins in the neighbouring cell and forms a cell to cell complex. | |||
== | ==Genetics== | ||
* | *Linitis plastica is transmitted in an autosomal dominant pattern.<ref name="pmid9537325">{{cite journal |vauthors=Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE |title=E-cadherin germline mutations in familial gastric cancer |journal=Nature |volume=392 |issue=6674 |pages=402–5 |year=1998 |pmid=9537325 |doi=10.1038/32918 |url=}}</ref><ref name="pmid18788075">{{cite journal |vauthors=Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C, Save V, Carneiro F, Paterson AL, Grehan N, Dwerryhouse S, Lao-Sirieix P, Caldas C, Fitzgerald RC |title=Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer |journal=J. Pathol. |volume=216 |issue=3 |pages=295–306 |year=2008 |pmid=18788075 |doi=10.1002/path.2426 |url=}}</ref><ref name="pmid19269290">{{cite journal |vauthors=Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carriço R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmão L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R |title=Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression |journal=Gastroenterology |volume=136 |issue=7 |pages=2137–48 |year=2009 |pmid=19269290 |doi=10.1053/j.gastro.2009.02.065 |url=}}</ref> | ||
*Genes involved in the pathogenesis of linitis plastica include CDH1 gene, located on chromosome 16q22.1, which codes for the E-cadherin protein. | |||
*The development of linitis plastica is the result of germline truncating mutations spread over several exons. | |||
*Consequently, the second allele coding for E-cadherin is inactivated. | |||
*Mutations include: | |||
* | **Promoter hypermethylation | ||
*The | **Loss of heterozygosity | ||
* | **Silencing mutation | ||
== | ==Associated conditions== | ||
Susceptibility to diffuse gastric cancer may also be linked to inherited polymorphisms in the PSCA (prostate stem cell antigen) gene, which is possibly involved in regulating gastric epithelial cell proliferation.<ref name="pmid18488030">{{cite journal |vauthors=Sakamoto H, Yoshimura K, Saeki N, Katai H, Shimoda T, Matsuno Y, Saito D, Sugimura H, Tanioka F, Kato S, Matsukura N, Matsuda N, Nakamura T, Hyodo I, Nishina T, Yasui W, Hirose H, Hayashi M, Toshiro E, Ohnami S, Sekine A, Sato Y, Totsuka H, Ando M, Takemura R, Takahashi Y, Ohdaira M, Aoki K, Honmyo I, Chiku S, Aoyagi K, Sasaki H, Ohnami S, Yanagihara K, Yoon KA, Kook MC, Lee YS, Park SR, Kim CG, Choi IJ, Yoshida T, Nakamura Y, Hirohashi S |title=Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer |journal=Nat. Genet. |volume=40 |issue=6 |pages=730–40 |year=2008 |pmid=18488030 |doi=10.1038/ng.152 |url=}}</ref> | |||
==Gross Pathology== | ==Gross Pathology== | ||
Revision as of 16:10, 8 January 2018
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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
It is thought that linitis plastica is the result of abnormal molecular pathways that result in defective intracellular adhesions.
Pathophysiology
- In diffuse type gastric cancer, the cells experience a loss of expression for cell adhesion protein E-cadherin.[1]
- The E-cadherin gene (CDH1) codes for a transmembrane cellular adhesion protein that provides a tail that adheres to other cells.
- The tail interacts with catenins in the neighbouring cell and forms a cell to cell complex.
Genetics
- Linitis plastica is transmitted in an autosomal dominant pattern.[2][3][4]
- Genes involved in the pathogenesis of linitis plastica include CDH1 gene, located on chromosome 16q22.1, which codes for the E-cadherin protein.
- The development of linitis plastica is the result of germline truncating mutations spread over several exons.
- Consequently, the second allele coding for E-cadherin is inactivated.
- Mutations include:
- Promoter hypermethylation
- Loss of heterozygosity
- Silencing mutation
Associated conditions
Susceptibility to diffuse gastric cancer may also be linked to inherited polymorphisms in the PSCA (prostate stem cell antigen) gene, which is possibly involved in regulating gastric epithelial cell proliferation.[5]
Gross Pathology
- On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
- On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ Graziano F, Humar B, Guilford P (2003). "The role of the E-cadherin gene (CDH1) in diffuse gastric cancer susceptibility: from the laboratory to clinical practice". Ann. Oncol. 14 (12): 1705–13. PMID 14630673.
- ↑ Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE (1998). "E-cadherin germline mutations in familial gastric cancer". Nature. 392 (6674): 402–5. doi:10.1038/32918. PMID 9537325.
- ↑ Barber M, Murrell A, Ito Y, Maia AT, Hyland S, Oliveira C, Save V, Carneiro F, Paterson AL, Grehan N, Dwerryhouse S, Lao-Sirieix P, Caldas C, Fitzgerald RC (2008). "Mechanisms and sequelae of E-cadherin silencing in hereditary diffuse gastric cancer". J. Pathol. 216 (3): 295–306. doi:10.1002/path.2426. PMID 18788075.
- ↑ Oliveira C, Sousa S, Pinheiro H, Karam R, Bordeira-Carriço R, Senz J, Kaurah P, Carvalho J, Pereira R, Gusmão L, Wen X, Cipriano MA, Yokota J, Carneiro F, Huntsman D, Seruca R (2009). "Quantification of epigenetic and genetic 2nd hits in CDH1 during hereditary diffuse gastric cancer syndrome progression". Gastroenterology. 136 (7): 2137–48. doi:10.1053/j.gastro.2009.02.065. PMID 19269290.
- ↑ Sakamoto H, Yoshimura K, Saeki N, Katai H, Shimoda T, Matsuno Y, Saito D, Sugimura H, Tanioka F, Kato S, Matsukura N, Matsuda N, Nakamura T, Hyodo I, Nishina T, Yasui W, Hirose H, Hayashi M, Toshiro E, Ohnami S, Sekine A, Sato Y, Totsuka H, Ando M, Takemura R, Takahashi Y, Ohdaira M, Aoki K, Honmyo I, Chiku S, Aoyagi K, Sasaki H, Ohnami S, Yanagihara K, Yoon KA, Kook MC, Lee YS, Park SR, Kim CG, Choi IJ, Yoshida T, Nakamura Y, Hirohashi S (2008). "Genetic variation in PSCA is associated with susceptibility to diffuse-type gastric cancer". Nat. Genet. 40 (6): 730–40. doi:10.1038/ng.152. PMID 18488030.