Molecular Detection of Occult Tumor Cells

Karen L. Kaul

One of the key roles performed by pathologists is determination of the presence or absence of tumor cells in clinical samples. This is the basis for most approaches to staging, monitoring response to treatment, and detecting relapse of neoplasia and, as such, is a critical step in determining the course of patient management. Pathologists have utilized a variety of approaches, continually seeking to improve performance and thus patient outcome. The literature reflects this quest, including reports assessing the increased sensitivity afforded by step sectioning, immuno-histochemistry, flow cytometry, and, more recently, molecular approaches for the detection of tumor cells in blood, bone marrow, and lymph node samples. The goal is, of course, the more accurate detection of disease spread and, ultimately, better patient care.

This chapter addresses some of the recent work in this area, focusing on molecular and, to some degree, immuno-histochemical approaches for the detection of rare tumor cells in clinical samples. A synopsis of the hundreds of articles published to date is beyond the scope of this chapter; instead, more general issues and findings are addressed, along with presentation of selected work. Several reviews are available for more detailed reading.1-6

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