|
1
|
Wardell CP, Fujita M, Yamada T, Simbolo M, Fassan M, Karlic R, Polak P, Kim J, Hatanaka Y, Maejima K, et al: Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations. J Hepatol. 68:959–969. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Peltomäki P: Update on Lynch syndrome genomics. Fam Cancer. 15:385–393. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Pal T, Permuth-Wey J and Sellers TA: A review of the clinical relevance of mismatch-repair deficiency in ovarian cancer. Cancer. 113:733–742. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Agaram NP, Shia J, Tang LH and Klimstra DS: DNA mismatch repair deficiency in ampullary carcinoma: A morphologic and immunohistochemical study of 54 cases. Am J Clin Pathol. 133:772–780. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Bonneville R, Krook MA, Kautto EA, Miya J, Wing MR, Chen HZ, Reeser JW, Yu L and Roychowdhury S: Landscape of Microsatellite Instability Across 39 Cancer Types. JCO Precis Oncol. 2017:1–15. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Isa T, Tomita S, Nakachi A, Miyazato H, Shimoji H, Kusano T, Muto Y and Furukawa M: Analysis of microsatellite instability, K-ras gene mutation and p53 protein overexpression in intrahepatic cholangiocarcinoma. Hepatogastroenterology. 49:604–608. 2002.PubMed/NCBI
|
|
7
|
Le DT, Durham JN, Smith KN, Wang H, Bartlett BR, Aulakh LK, Lu S, Kemberling H, Wilt C, Luber BS, et al: Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 357:409–413. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Liu D, Momoi H, Li L, Ishikawa Y and Fukumoto M: Microsatellite instability in thorotrast-induced human intrahepatic cholangiocarcinoma. Int J Cancer. 102:366–371. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
9
|
Momoi H, Itoh T, Nozaki Y, Arima Y, Okabe H, Satoh S, Toda Y, Sakai E, Nakagawara K, Flemming P, et al: Microsatellite instability and alternative genetic pathway in intrahepatic cholangiocarcinoma. J Hepatol. 35:235–244. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Park S, Kim SW, Kim SH, Darwish NS and Kim WH: Lack of microsatellite instability in neoplasms of ampulla of Vater. Pathol Int. 53:667–670. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Rashid A, Ueki T, Gao YT, Houlihan PS, Wallace C, Wang BS, Shen MC, Deng J and Hsing AW: K-ras mutation, p53 overexpression, and microsatellite instability in biliary tract cancers: A population-based study in China. Clin Cancer Res. 8:3156–3163. 2002.PubMed/NCBI
|
|
12
|
Ruemmele P, Dietmaier W, Terracciano L, Tornillo L, Bataille F, Kaiser A, Wuensch PH, Heinmoeller E, Homayounfar K, Luettges J, et al: Histopathologic features and microsatellite instability of cancers of the papilla of vater and their precursor lesions. Am J Surg Pathol. 33:691–704. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
13
|
Salem ME, Puccini A, Grothey A, Raghavan D, Goldberg RM, Xiu J, Korn WM, Weinberg BA, Hwang JJ, Shields AF, et al: Landscape of Tumor Mutation Load, Mismatch Repair Deficiency, and PD-L1 Expression in a Large Patient Cohort of Gastrointestinal Cancers. Mol Cancer Res. 16:805–812. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
14
|
Sessa F, Furlan D, Zampatti C, Carnevali I, Franzi F and Capella C: Prognostic factors for ampullary adenocarcinomas: Tumor stage, tumor histology, tumor location, immunohistochemistry and microsatellite instability. Virchows Arch. 451:649–657. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Silva VW, Askan G, Daniel TD, Lowery M, Klimstra DS, Abou-Alfa GK and Shia J: Biliary carcinomas: Pathology and the role of DNA mismatch repair deficiency. Chin Clin Oncol. 5:622016. View Article : Google Scholar : PubMed/NCBI
|
|
16
|
Suto T, Habano W, Sugai T, Uesugi N, Kanno S, Saito K and Nakamura S: Infrequent microsatellite instability in biliary tract cancer. J Surg Oncol. 76:121–126. 2001. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Ueno M, Chung HC, Nagrial A, Marabelle A, Kelley RK, Xu L, Mahoney J, Pruitt SK and Oh DY: Pembrolizumab for advanced biliary adenocarcinoma: Results from the multicohort, phase II KEYNOTE-158 study. Ann Oncol. 29 (Suppl 8):viii2102018. View Article : Google Scholar
|
|
18
|
Winkelmann R, Schneider M, Hartmann S, Schnitzbauer AA, Zeuzem S, Peveling-Oberhag J, Hansmann ML and Walter D: Microsatellite Instability Occurs Rarely in Patients with Cholangiocarcinoma: A Retrospective Study from a German Tertiary Care Hospital. Int J Mol Sci. 19:14212018. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Anderson C and Kim R: Adjuvant therapy for resected extrahepatic cholangiocarcinoma: A review of the literature and future directions. Cancer Treat Rev. 35:322–327. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
20
|
Brandi G, Farioli A, Astolfi A, Biasco G and Tavolari S: Genetic heterogeneity in cholangiocarcinoma: A major challenge for targeted therapies. Oncotarget. 6:14744–14753. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
21
|
DeOliveira ML, Cunningham SC, Cameron JL, Kamangar F, Winter JM, Lillemoe KD, Choti MA, Yeo CJ and Schulick RD: Cholangiocarcinoma: Thirty-one-year experience with 564 patients at a single institution. Ann Surg. 245:755–762. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
22
|
Valle J, Wasan H, Palmer DH, Cunningham D, Anthoney A, Maraveyas A, Madhusudan S, Iveson T, Hughes S, Pereira SP, et al ABC-02 Trial Investigators, : Cisplatin plus gemcitabine versus gemcitabine for biliary tract cancer. N Engl J Med. 362:1273–1281. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
23
|
Marabelle A, Le DT, Ascierto PA, Di Giacomo AM, De Jesus-Acosta A, Delord JP, Geva R, Gottfried M, Penel N, Hansen AR, et al: Efficacy of pembrolizumab in patients with noncolorectal high microsatellite instability/mismatch repair-deficient cancer: results from the phase II KEYNOTE-158 study. J Clin Oncol. 38:1–10. 2020. View Article : Google Scholar : PubMed/NCBI
|
|
24
|
Zayac A and Almhanna K: Hepatobiliary cancers and immunotherapy: Where are we now and where are we heading? Transl Gastroenterol Hepatol. 5:82020. View Article : Google Scholar : PubMed/NCBI
|
|
25
|
Czink E, Kloor M, Goeppert B, Fröhling S, Uhrig S, Weber TF, Meinel J, Sutter C, Weiss KH, Schirmacher P, et al: Successful immune checkpoint blockade in a patient with advanced stage microsatellite-unstable biliary tract cancer. Cold Spring Harb Mol Case Stud. 3:a0019742017. View Article : Google Scholar : PubMed/NCBI
|
|
26
|
Naganuma A, Sakuda T, Murakami T, Aihara K, Watanuki Y, Suzuki Y, Shibasaki E, Masuda T, Uehara S, Yasuoka H, et al: Microsatellite Instability-high Intrahepatic Cholangiocarcinoma with Portal Vein Tumor Thrombosis Successfully Treated with Pembrolizumab. Intern Med. 59:2261–2267. 2020. View Article : Google Scholar : PubMed/NCBI
|
|
27
|
Lindor NM, Burgart LJ, Leontovich O, Goldberg RM, Cunningham JM, Sargent DJ, Walsh-Vockley C, Petersen GM, Walsh MD, Leggett BA, et al: Immunohistochemistry versus microsatellite instability testing in phenotyping colorectal tumors. J Clin Oncol. 20:1043–1048. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
28
|
Mills AM and Longacre TA: Lynch Syndrome: Female Genital Tract Cancer Diagnosis and Screening. Surg Pathol Clin. 9:201–214. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
29
|
Chaves P, Cruz C, Lage P, Claro I, Cravo M, Leitão CN and Soares J: Immunohistochemical detection of mismatch repair gene proteins as a useful tool for the identification of colorectal carcinoma with the mutator phenotype. J Pathol. 191:355–360. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
30
|
Shia J, Tang LH, Vakiani E, Guillem JG, Stadler ZK, Soslow RA, Katabi N, Weiser MR, Paty PB, Temple LK, et al: Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: A 2-antibody panel may be as predictive as a 4-antibody panel. Am J Surg Pathol. 33:1639–1645. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
31
|
Brierley JD, Gospodarowicz MK and Wittekind C: TNM Classification of Malignant Tumours, 8th Edition. Wiley-Blackwell; 2016
|
|
32
|
Bando H, Okamoto W, Fukui T, Yamanaka T, Akagi K and Yoshino T: Utility of the quasi-monomorphic variation range in unresectable metastatic colorectal cancer patients. Cancer Sci. 109:3411–3415. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
33
|
Akagi K, Oki E, Taniguchi H, Nakatani K, Aoki D, Kuwata T and Yoshino T: The real-world data on microsatellite instability status in various unresectable or metastatic solid tumors. Cancer Sci. 112:1105–1113. 2021. View Article : Google Scholar : PubMed/NCBI
|
|
34
|
Moy AP, Shahid M, Ferrone CR, Borger DR, Zhu AX, Ting D and Deshpande V: Microsatellite instability in gallbladder carcinoma. Virchows Arch. 466:393–402. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
35
|
Yoshida T, Sugai T, Habano W, Nakamura S, Uesugi N, Funato O and Saito K: Microsatellite instability in gallbladder carcinoma: Two independent genetic pathways of gallbladder carcinogenesis. J Gastroenterol. 35:768–774. 2000. View Article : Google Scholar : PubMed/NCBI
|
|
36
|
Yanagisawa N, Mikami T, Yamashita K and Okayasu I: Microsatellite instability in chronic cholecystitis is indicative of an early stage in gallbladder carcinogenesis. Am J Clin Pathol. 120:413–417. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
37
|
Nagahashi M, Ajioka Y, Lang I, Szentirmay Z, Kasler M, Nakadaira H, Yokoyama N, Watanabe G, Nishikura K, Wakai T, et al: Genetic changes of p53, K-ras, and microsatellite instability in gallbladder carcinoma in high-incidence areas of Japan and Hungary. World J Gastroenterol. 14:70–75. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
38
|
Shia J: Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 10:293–300. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
39
|
Shia J, Ellis NA and Klimstra DS: The utility of immunohistochemical detection of DNA mismatch repair gene proteins. Virchows Arch. 445:431–441. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
40
|
Shia J, Klimstra DS, Nafa K, Offit K, Guillem JG, Markowitz AJ, Gerald WL and Ellis NA: Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms. Am J Surg Pathol. 29:96–104. 2005. View Article : Google Scholar : PubMed/NCBI
|
|
41
|
Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, et al: Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). Gastroenterology. 130:312–322. 2006. View Article : Google Scholar : PubMed/NCBI
|
|
42
|
Palomaki GE, McClain MR, Melillo S, Hampel HL and Thibodeau SN: EGAPP supplementary evidence review: DNA testing strategies aimed at reducing morbidity and mortality from Lynch syndrome. Genet Med. 11:42–65. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
43
|
Kakar S, Burgart LJ, Thibodeau SN, Rabe KG, Petersen GM, Goldberg RM and Lindor NM: Frequency of loss of hMLH1 expression in colorectal carcinoma increases with advancing age. Cancer. 97:1421–1427. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
44
|
Tajima Y, Eguchi H, Chika N, Nagai T, Dechamethakun S, Kumamoto K, Tachikawa T, Akagi K, Tamaru JI, Seki H, et al: Prevalence and molecular characteristics of defective mismatch repair epithelial ovarian cancer in a Japanese hospital-based population. Jpn J Clin Oncol. 48:728–735. 2018. View Article : Google Scholar : PubMed/NCBI
|
|
45
|
Loilome W, Kadsanit S, Muisook K, Yongvanit P, Namwat N, Techasen A, Puapairoj A, Khuntikeo N and Phonjit P: Imbalanced adaptive responses associated with microsatellite instability in cholangiocarcinoma. Oncol Lett. 13:639–646. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
46
|
Umar A, Boland CR, Terdiman JP, Syngal S, de la Chapelle A, Rüschoff J, Fishel R, Lindor NM, Burgart LJ, Hamelin R, et al: Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. J Natl Cancer Inst. 96:261–268. 2004. View Article : Google Scholar : PubMed/NCBI
|
|
47
|
Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Clendenning M, Sotamaa K, Prior T, Westman JA, et al: Feasibility of screening for Lynch syndrome among patients with colorectal cancer. J Clin Oncol. 26:5783–5788. 2008. View Article : Google Scholar : PubMed/NCBI
|
|
48
|
Yurgelun MB, Kulke MH, Fuchs CS, Allen BA, Uno H, Hornick JL, Ukaegbu CI, Brais LK, McNamara PG, Mayer RJ, et al: Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. J Clin Oncol. 35:1086–1095. 2017. View Article : Google Scholar : PubMed/NCBI
|
|
49
|
Valle JW: Advances in the treatment of metastatic or unresectable biliary tract cancer. Ann Oncol. 21 (Suppl 7):vii345–vii348. 2010. View Article : Google Scholar : PubMed/NCBI
|
|
50
|
Wang SJ, Lemieux A, Kalpathy-Cramer J, Ord CB, Walker GV, Fuller CD, Kim JS and Thomas CR Jr: Nomogram for predicting the benefit of adjuvant chemoradiotherapy for resected gallbladder cancer. J Clin Oncol. 29:4627–4632. 2011. View Article : Google Scholar : PubMed/NCBI
|
|
51
|
Wang Y, Li J, Xia Y, Gong R, Wang K, Yan Z, Wan X, Liu G, Wu D, Shi L, et al: Prognostic nomogram for intrahepatic cholangiocarcinoma after partial hepatectomy. J Clin Oncol. 31:1188–1195. 2013. View Article : Google Scholar : PubMed/NCBI
|
|
52
|
Homet Moreno B and Ribas A: Anti-programmed cell death protein-1/ligand-1 therapy in different cancers. Br J Cancer. 112:1421–1427. 2015. View Article : Google Scholar : PubMed/NCBI
|
|
53
|
Dudley JC, Lin MT, Le DT and Eshleman JR: Microsatellite Instability as a Biomarker for PD-1 Blockade. Clin Cancer Res. 22:813–820. 2016. View Article : Google Scholar : PubMed/NCBI
|
|
54
|
Le DT, Uram JN, Wang H, Kemberling H, Eyring A, Bartlett B, Goldberg RM, Crocenzi TS, Fisher GA, Lee JJ, et al: PD-1 blockade in mismatch repair deficient non-colorectal gastrointestinal cancers. J Clin Oncol. 34 (Suppl 4):195. 2016. View Article : Google Scholar
|
