RNF43 is an early and specific mutated gene in the serrated pathway, with increased frequency in traditional serrated adenoma and its associated malignancy

American Journal of Surgical Pathology

Volumn 40, Issue 10, 2016, Pages 1352-1359

  Tsai, Jia Huei ^a,b   Liau, Jau Yu ^a,b   Yuan, Chang Tsu ^a   Lin, Yu Lin ^a,b   Tseng, Li Hui ^a   Cheng, Mei Ling ^a   Jeng, Yung Ming ^a,b  

^a NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^b NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Colorectal carcinoma; RNF43; The serrated pathway; Traditional serrated adenoma

Indexed keywords

DNA BINDING PROTEIN; ONCOPROTEIN; RNF43 PROTEIN, HUMAN; TUMOR MARKER;

ADENOMA; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS; HUMAN; MALE; MUTATION; PATHOLOGY;

ADENOMA; BIOMARKERS, TUMOR; COLORECTAL NEOPLASMS; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MUTATION; ONCOGENE PROTEINS;

EID: 84974809091     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000664     Document Type: Article

References (26)

1. Koo BK, Spit M, Jordens I, et al. Tumour suppressor RNF43 is a stem-cell E3 ligase that induces endocytosis of Wnt receptors. Nature. 2012;488:665-669.
2. Zebisch M, Jones EY. ZNRF3/RNF43-A direct linkage of extracellular recognition and E3 ligase activity to modulate cell surface signalling. Prog Biophys Mol Biol. 2015;118:112-118.
3. Tsukiyama T, Fukui A, Terai S, et al. Molecular role of RNF43 in canonical and noncanonical Wnt signaling. Mol Cell Biol. 2015;35:2007-2023.
4. Takahashi N, Yamaguchi K, Ikenoue T, et al. Identification of two Wnt-responsive elements in the intron of RING finger protein 43 (RNF43) gene. PLoS One. 2014;9:e86582.
5. de Lau W, Peng WC, Gros P, et al. The R-spondin/Lgr5/Rnf43 module: regulator of Wnt signal strength. Genes Dev. 2014;28: 305-316.
6. Jiang X, Hao HX, Growney JD, et al. Inactivating mutations of RNF43 confer Wnt dependency in pancreatic ductal adenocarcinoma. Proc Natl Acad Sci USA. 2013;110:12649-12654.
7. Ryland GL, Hunter SM, Doyle MA, et al. RNF43 is a tumour suppressor gene mutated in mucinous tumours of the ovary. J Pathol. 2013;229:469-476.
8. Giannakis M, Hodis E, Jasmine Mu X, et al. RNF43 is frequently mutated in colorectal and endometrial cancers. Nat Genet. 2014;46: 1264-1266.
9. Furukawa T, Kuboki Y, Tanji E, et al. Whole-exome sequencing uncovers frequent GNAS mutations in intraductal papillary mucinous neoplasms of the pancreas. Sci Rep. 2011;1:161.
10. Wang K, Yuen ST, Xu J, et al. Whole-genome sequencing and comprehensive molecular profiling identify new driver mutations in gastric cancer. Nat Genet. 2014;46:573-582.
11. Ong CK, Subimerb C, Pairojkul C, et al. Exome sequencing of liver fluke-associated cholangiocarcinoma. Nat Genet. 2012;44: 690-693.
12. Wu J, Jiao Y, Dal Molin M, et al. Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways. Proc Natl Acad Sci USA. 2011;108:21188-21193.
13. Snover DC, Ahnen DJ, Burt RW, et al. Serrated polyps of the colon and rectum and serrated polyposis. In: Bosman FT, Carneiro F, Hruban RH, Theise ND, eds. World Health Organization Classification of Tumours of the Digestive System, 4th ed. Lyon: IARC; 2010:160-165.
14. Bettington M, Walker N, Clouston A, et al. The serrated pathway to colorectal carcinoma: current concepts and challenges. Histopathology. 2013;62:367-386.
15. Rex DK, Ahnen DJ, Baron JA, et al. Serrated lesions of the colorectum: review and recommendations from an expert panel. Am J Gastroenterol. 2012;107:1315-1329.
16. Tsai JH, Cheng CH, Chen CC, et al. Traditional serrated adenoma with BRAF mutation is associated with synchronous/metachronous BRAF-mutated serrated lesions. Histopathology. 2016;68:810-818.
17. Tsai JH, Lin YL, Cheng YC, et al. Aberrant expression of annexin A10 is closely related to gastric phenotype in serrated pathway to colorectal carcinoma. Mod Pathol. 2015;28:268-278.
18. Tsai JH, Liau JY, Lin YL, et al. Traditional serrated adenoma has two pathways of neoplastic progression that are distinct from the sessile serrated pathway of colorectal carcinogenesis. Mod Pathol. 2014;27:1375-1385.
19. Goldstein NS. Small colonic microsatellite unstable adenocarcinomas and high-grade epithelial dysplasias in sessile serrated adenoma polypectomy specimens: a study of eight cases. Am J Clin Pathol. 2006;125:132-145.
20. Sekine S, Yamashita S, Tanabe T, et al. Frequent PTPRK-RSPO3 fusions and RNF43 mutations in colorectal traditional serrated adenoma. J Pathol. 2016; DOI:10.1002/path.4709.
21. Bettington ML, Walker NI, Rosty C, et al. A clinicopathological and molecular analysis of 200 traditional serrated adenomas. Mod Pathol. 2015;28:414-427.
22. Kim KM, Lee EJ, Kim YH, et al. KRAS mutations in traditional serrated adenomas from Korea herald an aggressive phenotype. Am J Surg Pathol. 2010;34:667-675.
23. Bettington ML, Chetty R. Traditional serrated adenoma: an update. Hum Pathol. 2015;46:933-938.
24. Chetty R. Traditional serrated adenoma (TSA): morphological questions, queries and quandaries. J Clin Pathol. 2016;69:6-11.
25. Longacre TA, Fenoglio-Preiser CM. Mixed hyperplastic adenomatous polyps/serrated adenomas. A distinct form of colorectal neoplasia. Am J Surg Pathol. 1990;14:524-537.
26. Takayama T, Ohi M, Hayashi T, et al. Analysis of K-ras, APC, and beta-catenin in aberrant crypt foci in sporadic adenoma, cancer, and familial adenomatous polyposis. Gastroenterology. 2001;121: 599-611.