Era of universal testing of microsatellite instability in colorectal cancer

被引:0
作者
Xuchen Zhang [1 ]
Jia Li [2 ]
机构
[1] Department of Pathology,Yale University School of Medicine and VA Medical Center
[2] Cancer Center and Department of Medicine,Yale University School of Medicine and VA Medical Center
关键词
Colorectal cancer; Lynch syndrome; Universal testing; DNA mismatch repair; Microsatellite instability;
D O I
暂无
中图分类号
R735.3 [肠肿瘤];
学科分类号
100214 ;
摘要
Colorectal cancer (CRC) incidence and mortality are constantly decreasing, but CRC still remains the third most prevalent cancer and the third most common cause of cancer death in both males and females in the United States. Recent rapid declines in CRC incidence rates have largely been attributed to increases in screening that can detect and remove precancerous polyps, and the decrease in death rates for CRC largely reflects improvements in early detection, treatment and the understanding of molecular/genetic basis of CRC. One of the important molecular/genetic findings is the presence of microsatellite instability (MSI) in CRCs. Many studies have shown the importance of MSI testing in diagnosing Lynch syndrome and predicting prognosis and response to chemotherapeutic agents in CRCs. Increased emphasis has been placed on the importance of MSI testing for all newly diagnosed individuals with CRCs. Both immunohistochemical staining (IHC) and polymerase chain reaction (PCR)-based MSI testing show high sensitivity and specificity in detecting MSI. The current clinical guidelines and histopathology features are indicative of, but not reliable in diagnosing Lynch syndrome and CRCs with MSI. Currently, there are evidences that universal testing for MSI starting with either IHC or PCR-based MSI testing is cost effective, sensitive, specific and is getting widely accepted.
引用
收藏
页码:12 / 19
页数:8
相关论文
共 17 条
  • [1] Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline[J] . Scott M. Weissman,Randall Burt,James Church,Steve Erdman,Heather Hampel,Spring Holter,Kory Jasperson,Matt F. Kalady,Joy Larsen Haidle,Henry T. Lynch,Selvi Palaniappan,Paul E. Wise,Leigha Senter.Journal of Genetic Counseling . 2012 (4)
  • [2] The impact of CpG island methylator phenotype and microsatellite instability on tumour budding in colorectal cancer
    Zlobec, Inti
    Bihl, Michel P.
    Foerster, Anja
    Rufle, Alex
    Lugli, Alessandro
    [J]. HISTOPATHOLOGY, 2012, 61 (05) : 777 - 787
  • [3] Usefulness of epithelial cell adhesion molecule expression in the algorithmic approach to Lynch syndrome identification[J] . Eva Musulen,Ignacio Blanco,Cristina Carrato,Maria Teresa Fernandez-Figueras,Marta Pineda,Gabriel Capella,Aurelio Ariza.Human Pathology . 2012
  • [4] Use of Mismatch Repair Immunohistochemistry and Microsatellite Instability Testing: Exploring Canadian Practices[J] . Steve E. Kalloger,Ghassan Allo,Anna Marie Mulligan,Aaron Pollett,Melyssa Aronson,Steven Gallinger,Emina E. Torlakovic,Blaise Alexander Clarke.The American Journal of Surgical Pathology . 2012 (4)
  • [5] Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: From the revised Bethesda guidelines to a universal approach[J] . Jane Morrison,Mary Bronner,Brandie H. Leach,Erinn Downs-Kelly,John R. Goldblum,Xiuli Liu.Scandinavian Journal of Gastroenterology . 2011 (11)
  • [6] Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function[J] . Louise Klarskov,Susanne Holck,Inge Bernstein,Henrik Okkels,Eva Rambech,Bo Baldetorp,Mef Nilbert.The American Journal of Surgical Pathology . 2011 (9)
  • [7] Lynch Syndrome and MYH-Associated Polyposis: Review and Testing Strategy[J] . McKinsey Goodenberger,Noralane M. Lindor.Journal of Clinical Gastroenterology . 2011 (6)
  • [8] Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised controlled trial[J] . John Burn,Anne-Marie Gerdes,Finlay Macrae,Jukka-Pekka Mecklin,Gabriela Moeslein,Sylviane Olschwang,Diane Eccles,D Gareth Evans,Eamonn R Maher,Lucio Bertario,Marie-Luise Bisgaard,Malcolm G Dunlop,Judy WC Ho,Shirley V Hodgson,Annika Lindblom,Jan Lubinski,Patrick J Morrison,Victoria Murday,Raj Ramesar,Lucy Side,Rodney J Scott,Huw JW Thomas,Hans F Vasen,
  • [9] Intratumoral budding as a potential parameter of tumor progression in mismatch repair–proficient and mismatch repair–deficient colorectal cancer patients[J] . Alessandro Lugli,Tatjana Vlajnic,Olivier Giger,Eva Karamitopoulou,Efstratios S. Patsouris,George Peros,Luigi M. Terracciano,Inti Zlobec.Human Pathology . 2011 (12)
  • [10] Immunohistochemical Staining for DNA Mismatch Repair Proteins in Intestinal Tract Carcinoma: How Reliable are Biopsy Samples?[J] . Jinru Shia,Zsofia Stadler,Martin R. Weiser,Michael Rentz,Mithat Gonen,Laura H. Tang,Efsevia Vakiani,Nora Katabi,Xiaoling Xiong,Arnold J. Markowitz,Moshe Shike,Jose Guillem,David S. Klimstra.The American Journal of Surgical Pathology . 2011 (3)