Microsatellite instability and MLH1 and MSH2 germline defects are related to clinicopathological features in sporadic colorectal cancer.

2000 ◽  
Author(s):  
M Fornasarig ◽  
A Viel ◽  
M Valentini ◽  
E Capozzi ◽  
R Sigon ◽  
...  
2009 ◽  
Vol 15 (4) ◽  
pp. 1155-1161 ◽  
Author(s):  
Krishan Kumar ◽  
Hassan Brim ◽  
Francis Giardiello ◽  
Duane T. Smoot ◽  
Mehdi Nouraie ◽  
...  

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 629-629
Author(s):  
Akihito Kawazoe ◽  
Kohei Shitara ◽  
Masaaki Noguchi ◽  
Shota Fukuoka ◽  
Yasutoshi Kuboki ◽  
...  

629 Background: Recently, anti-programmed death 1 (PD-1) antibody has shown promising efficacy in a phase II trial for patients with microsatellite instability-high (MSI-H) tumors, especially in those with metastatic colorectal cancer (mCRC). Currently, several clinical trials of anti-PD-1 antibody for patients with MSI-H mCRC are ongoing. However, little is known about the frequencies and clinicopathological features of MSI-H mCRC in Japanese patients. Methods: Patients with histologically confirmed adenocarcinoma of mCRC were eligible for this observational study. MSI status was analyzed in tumors using the MSI Analysis System (Promega) composed of 5 mononucleotide markers. KRAS, NRAS, BRAF and PIK3CA mutations were also evaluated using the multiplex kit. Results: A total of 232 patients were enrolled until August 31, 2015, of which MSI-H was detected in 5 patients (2.1%). Among five patients with MSI-H mCRC, median age was 45 years (28-75), four had tumors on right-sided colon, five had moderately differentiated adenocarcinoma, one had poorly differentiated adenocarcinoma, and three had stage IV disease at presentation. Overall survival for patients with MSI-H mCRC from the start of first-line systemic chemotherapy ranged from 8.1 to 62.0 month. All five patients with MSI-H mCRC had RAS wild-type tumors and two had BRAF V600E mutation. One patient with MSI-H mCRC was enrolled in a phase II trial of anti-PD-1 antibody. Conclusions: MSI-H mCRC is rare in Japanese patients. A large scale nationwide cancer genome screening project together with MSI status is required to evaluate more detailed clinicopathological features and facilitate the enrollment of patients with MSI-H mCRC for clinical trials with anti-PD-1 antibody.


2010 ◽  
Vol 101 (7) ◽  
pp. 577-581 ◽  
Author(s):  
Ki Joo Kang ◽  
Dong Hyun Sinn ◽  
Sung Hyun Park ◽  
Jin Yong Kim ◽  
Dong Kyung Chang ◽  
...  

2017 ◽  
Vol 43 (2) ◽  
pp. 134-141
Author(s):  
Utku Tantoğlu ◽  
Seher Yüksel ◽  
Cihangir Akyol ◽  
Haldun Doğan ◽  
Nükhet Kutlay ◽  
...  

Abstract Objectives: Our aim was to determine how well immunohistochemical analysis identified colon cancer patients with microsatellite instability in Turkish patients. Material and methods: Subjects were patients that underwent surgery for colorectal cancer in our institution between 2006 and 2011. Patients were grouped as: (1) suspected Lynch syndrome (n=14), (2) familial colorectal cancer (n=14), and (3) sporadic colorectal cancer groups (n=14). Mismatch repair proteins were analyzed by a four antibody-panel immunohistochemistry. Microsatellite instability analysis was conducted on DNA samples using MSI-PCR followed by fragment analysis. Results: The immunohistochemistry and PCR results had good concordance in 35/42 patients. Both microsatellite instability and at least one mismatch repair protein deficiency were detected in 11 patients, and both microsatellite stability and normal expression of mismatch repair proteins were detected in 24 patients. Test results were discordant in seven of the patients. Conclusion: As it is not feasible to perform expensive molecular tests in healthcare units in many developing countries, the four antibody-panel immunohistochemistry is a reliable and affordable method for screening for colorectal cancer, including Lynch syndrome and sporadic cases when suspected.


2000 ◽  
Vol 118 (4) ◽  
pp. A59 ◽  
Author(s):  
Togo Goichi ◽  
Okamoto Makoto ◽  
Matsumura Masayuki ◽  
Kato Jun ◽  
Yamaji Hiroshi ◽  
...  

2006 ◽  
Vol 15 (2) ◽  
pp. 97-106 ◽  
Author(s):  
Leopoldo Sarli ◽  
Lorena Bottarelli ◽  
Cinzia Azzoni ◽  
Nicoletta Campanini ◽  
Gabriella Di Cola ◽  
...  

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