Published online before print June 18, 2009

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Journal of Molecular Diagnostics 2009, Vol. 11, No. 4
Copyright © 2009 American Society for Investigative Pathology & Association for Molecular Pathology
DOI: 10.2353/jmoldx.2009.080125

Special Article

CpG Methylation Analysis—Current Status of Clinical Assays and Potential Applications in Molecular Diagnostics

A Report of the Association for Molecular Pathology

Antonia R. Sepulveda^*, Dan Jones^*, Shuji Ogino^*, Wade Samowitz^*¶, Margaret L. Gulley^*||, Robin Edwards^***, Victor Levenson^*, Victoria M. Pratt^*, Bin Yang^*, Khedoudja Nafa^*¶¶, Liying Yan^*|||| and Patrick Vitazka^****

From The Methylation Working Group of the Association for Molecular Pathology Clinical Practice Committee *; the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania; the University of Texas M.D. Anderson Cancer Center, Houston, Texas; the Brigham and Women’s Hospital and Harvard Medical School, Dana-Farber Cancer Institute, Harvard School of Public Health, Boston, Massachusetts; ^¶ ARUP Laboratories, University of Utah, Salt Lake City, Utah; the University of North Carolina, ^|| Chapel Hill, North Carolina; Oncology Wyeth Research, ** Collegeville, Pennsylvania; Rush University Medical Center, Chicago, Illinois; Quest Diagnostics, Nichols Institute, Chantilly, Virginia; the Cleveland Clinic Foundation, Cleveland, Ohio; the Memorial Sloan-Kettering Cancer Center, ^¶¶ New York, New York; EpigenDx, ^|||| Worcester, MA; and Virginia Commonwealth University, Medical College of Virginia, *** Richmond, Virginia

Methylation of CpG islands in gene promoter regions is a major molecular mechanism of gene silencing and underlies both cancer development and progression. In molecular oncology, testing for the CpG methylation of tissue DNA has emerged as a clinically useful tool for tumor detection, outcome prediction, and treatment selection, as well as for assessing the efficacy of treatment with the use of demethylating agents and monitoring for tumor recurrence. In addition, because CpG methylation occurs early in pre-neoplastic tissues, methylation tests may be useful as markers of cancer risk in patients with either infectious or inflammatory conditions. The Methylation Working Group of the Clinical Practice Committee of the Association of Molecular Pathology has reviewed the current state of clinical testing in this area. We report here our summary of both the advantages and disadvantages of various methods, as well as the needs for standardization and reporting. We then conclude by summarizing the most promising areas for future clinical testing in cancer molecular diagnostics.