Which condition is associated with renal cell carcinoma, hemangioblastomas, and pheochromocytoma?

Prepare for USMLE Step 1 Pathology Exam with comprehensive quizzes, flashcards, and detailed explanations. Enhance your understanding and be exam-ready!

The association of renal cell carcinoma, hemangioblastomas, and pheochromocytoma is characteristic of von Hippel-Lindau disease. This hereditary condition is caused by a mutation in the VHL gene, which plays a crucial role in the regulation of cell growth and apoptosis. In individuals with von Hippel-Lindau disease, there is a predisposition to developing various tumors and cysts, particularly affecting the kidneys, pancreas, and central nervous system.

Renal cell carcinoma is one of the hallmark tumors associated with this syndrome, often presenting in younger patients and sometimes bilaterally. Hemangioblastomas are vascular tumors commonly found in the cerebellum, retina, and spinal cord, and pheochromocytomas are tumors that arise from the adrenal medulla, leading to catecholamine overproduction, which can cause episodic hypertension.

In contrast, other options represent different genetic syndromes with distinct tumor associations. For example, Li-Fraumeni syndrome is primarily linked to breast cancer, soft tissue sarcomas, and brain tumors due to mutations in the TP53 gene. Neurofibromatosis is associated with neurofibromas and other tumors related to the nervous system, while Beckwith-Wiedemann syndrome typically involves over

Subscribe

Get the latest from Examzify

You can unsubscribe at any time. Read our privacy policy