Lynch syndrome is the most common form of hereditary colorectal cancer and is associated with an increased incidence of endometrial cancer, small bowel cancer, and other malignancies. The advent of immune checkpoint blockade, next-generation sequencing, and precision medicine molecular tumor boards have revolutionized the current treatment landscape for many cancers and allowed for more creative approaches to treating patients. In addition, tissue agnostic approvals have also served as valid treatment options for patients with otherwise untreatable cancers. In this report, we discuss the case of a 70-year-old woman with Lynch syndrome found to have retroperitoneal lymphadenopathy with p16-negative squamous cell carcinoma, diagnosed as carcinoma of unknown primary (CUP). To our knowledge, this is the first report of Lynch syndrome-associated squamous cell CUP. More research is needed on newly emerging cancer presentations in Lynch syndrome patients as they achieve longer lifespans.
Keywords: cancer immunotherapy; carcinoma of unknown primary; next-generation sequencing; tissue agnostic approval; translational and precision medicine.
Copyright © 2021, Jones et al.