The Role of the Surgical Pathologist in the Recognition of Hereditary Mesenchymal Neoplasms

There are inherited germline variants that predispose patients to select mesenchymal tumors with associated tumor syndromes. While many of these tumors are clinically suspected or diagnosed early in life, pathologists can play a critical role in their initial recognition and reporting, prompting appropriate confirmatory testing and follow-up for the affected patient and screening for their family members. Hereditary conditions commonly encountered in association with bone and soft tissue pathology include Hereditary Multiple Osteochondromas, Familial Adenomatous Polyposis, Carney Complex, and Neurofibromatosis Type I. Additional syndromes include Rhabdoid Tumor Predisposition Syndrome, Familial Schwannomatosis, DICER1 syndrome, and others. Herein, we describe select bone and soft tissue tumors associated with familial syndromes, aiming to provide a guide for practicing surgical pathologists on how to recognize these lesions and when they should raise the possibility of an associated hereditary condition.