#32 Embryological Classification of Hereditary Colon Cancer Syndromes

Study #32

This was the result of a “eureka” moment where the realization that hamartomatous syndromes of colorectal cancer predisposition are mesodermal and the adenomatous syndromes are endodermal dawned on me. Here we explore the implications of that realization.

Abbass MA, Plesec T, Church JM. A Different Way to Think About Syndromes of Hereditary Colorectal Cancer. Dis Colon Rectum. 2023; 66: 1339-1346.

Background: Hereditary colorectal cancer is an increasingly complex field in which the commoner syndromes are being augmented by rarer genetic presentations contributing to familial polyposis and colorectal cancer. Coming to grips with the complexity is difficult because of the phenotypic and genotypic overlap between syndromes.

Objective: This study aimed to describe a new way of thinking about syndromes of hereditary colorectal cancer based on their embryonic tissue of origin.

Data sources: Articles were searched through PubMed and MEDLINE.

Study selection: The terms "hereditary colorectal cancer," "syndromes of hereditary colorectal cancer," and "hereditary polyposis" were used to direct the search.

Results: Primarily endoderm-derived syndromes were different from mesoderm-derived syndromes in their genetics, molecular biology, histology, and clinical course.

Limitations: There is considerable phenotypic and genotypic overlap between syndromes, even when considering embryonic tissue of origin.

Conclusions: Thinking about hereditary syndromes of colorectal cancer from the perspective of embryonic tissue of origin provides a fresh look at phenotype and genotype that opens new areas of exploration.