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In the post-genomic era of medicine, the association of specific mutations in familial cancer syndromes and their association with specific tumor types and/or histologic variants are actively being identified and documented. Newly detected alterations increase our understanding of these syndromes, and each patient identified improves our awareness of the varying phenotypes and genotypephenotype correlations. Integration of clinical findings with new technologies that identify genetic findings in the patient’s tumor as well as germline DNA, together with additional clinical tests, continues to facilitate an approach to patients that is more informed and effective, including opportunities for genetic counseling to further educate and empower patients and their families. The case presented herein illustrates this through identification of a patient with type I Turcot syndrome, a Lynch syndrome variant, with confirmatory germline genetic testing and establishment of the molecular pathophysiologic explanation (i.e, microsatellite instability) for his disease. Specifically, this case was unique in that the patient’s CNS tumor consisted of an unusual histologic subtype, of which only two other cases have been documented. Our goal is to contribute to the rapidly growing cohort of individuals with Lynch Syndrome, including unique subsets, in order to better understand clinical associations and facilitate optimal surveillance of affected relatives.

Turcot Syndrome with Gliosarcoma: A rare variation of a Lynch Syndrome Phenotype