American Board of Surgery Qualifying Exam (ABS QE) Practice Test

Which hereditary condition is associated with a risk of CNS tumors and peripheral nerve sheath tumors?

1. Gardner's Syndrome

2. Neurofibromatosis

3. Li-Fraumeni syndrome

4. Von Hippel-Lindau syndrome

The correct answer is: Neurofibromatosis

Neurofibromatosis is known for its association with both central nervous system (CNS) tumors and peripheral nerve sheath tumors. This hereditary condition is characterized by the formation of neurofibromas, which are benign tumors that develop along nerves, and gliomas, particularly optic gliomas, which can arise in the CNS. There are two main types of neurofibromatosis: Neurofibromatosis type 1 (NF1) and type 2 (NF2), both of which increase the risk of these tumors. In NF1, individuals often develop multiple neurofibromas and have a higher incidence of various types of tumors, including optic nerve gliomas. In NF2, individuals are mainly at risk for vestibular schwannomas (acoustic neuromas) and other nervous system tumors. The genetic mutations that lead to neurofibromatosis cause a disruption in normal cell growth and development, contributing to tumor formation. In contrast, Gardner's Syndrome primarily involves colorectal polyps and soft tissue tumors, while Li-Fraumeni syndrome is linked to a variety of malignancies, including sarcomas and breast cancer, but not specifically CNS tumors. Von Hippel-Lindau syndrome primarily leads to hemangioblastomas