How to Screen for Hereditary Cancers in General Pathology Practice

-As a pathologist, an awareness of the particular diagnoses that can serve as "sentinels" for an underlying genetic syndrome can be incredibly beneficial to patients and their families. This is a complex and ever-changing field of medicine, where remaining up to date with diagnostic and treatment options is challenging. Simply raising the possibility of an underlying syndrome may not, in itself, be diagnostic; however, this may present an opportunity for genetic assessment, and possibly early intervention or primary prevention of disease in the kindred. In the last decade, immunohistochemistry has emerged as a useful tool in hereditary cancer screening. This is best exemplified by the use of mismatch repair immunohistochemistry as a screening tool in colorectal and endometrioid carcinomas. Reflex testing of all tumors for deficiencies in these proteins is now resulting in superior identification and treatment of Lynch-associated cancers, and families harboring these syndromes. Despite the success and potential value of immunohistochemistry as a genetic screening tool, hematoxylin-eosin morphology remains a valuable tool for hereditary cancer screening and is the focus of this article.

-To highlight the utility of hematoxylin-eosin morphology as a valuable tool for hereditary cancer screening.

-Primary literature review with PubMed.

-Recognition of tumors associated with cancer predisposition may identify individuals and families at high risk for cancer and may also have peridiagnostic utility with regard to implications for targeted therapy.