Technology Assessment

A systematic review of loss-of-heterozygosity based topographic genotyping with PathfinderTG®


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Microscopic (pathologic) analysis of tissue samples is central to the diagnosis and management of patients with malignancy. There are several instances where the morphologic analysis of a tissue specimen is inconclusive and may not be able to inform management decisions (e.g., trying to distinguish a metastatic tumor from a de novo primary tumor), or in some instances trying to distinguish malignant from nonmalignant tissue (e.g., sorting apart glial neoplasms from reactive gliosis).

Topographic genotyping integrates anatomic pathology and molecular analyses. Briefly, it involves performing microscopic examination of a specimen, identifying areas of interest on the pathology slide, and microdissecting (manually excising) them under the microscope. The minute tissue samples, enriched in tumor cells, can be subjected to molecular analyses with specifically developed protocols.

It has been claimed that analyzing microdissected tissue areas using specific genetic marker panels can aid pathologic diagnosis, individualize prognosis and guide treatment decisions. Herein we perform a systematic review of the published literature on loss-of-heterozygosity based topographic genotyping with PathfinderTG®, a patented technology for topographic genotyping offered by the private company RedPath Integrated Pathology Inc. (

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