A 60-year-old man comes to the office due to dark, rusty-colored urine for the last 2 weeks. He reports no pain, urinary frequency, or urgency. The patient has no chronic medical conditions and takes no medications. He smoked a half pack of cigarettes daily for 10 years but quit 30 years ago. His father had hypertension and his mother has Alzheimer dementia. Urinalysis shows a large number of red blood cells. Renal ultrasound reveals a mass in the right kidney. Cytologic evaluation of the mass shows malignant cells with a chromosome 3p deletion. The deletion most likely involves which of the following genes?

Question

A 60-year-old man comes to the office due to dark, rusty-colored urine for the last 2 weeks.  He reports no pain, urinary frequency, or urgency.  The patient has no chronic medical conditions and takes no medications.  He smoked a half pack of cigarettes daily for 10 years but quit 30 years ago.  His father had hypertension and his mother has Alzheimer dementia.  Urinalysis shows a large number of red blood cells.  Renal ultrasound reveals a mass in the right kidney.  Cytologic evaluation of the mass shows malignant cells with a chromosome 3p deletion.  The deletion most likely involves which of the following genes?

Quizplus · Accepted Answer

Eductional Objective: Sporadic and hereditary (associated with von Hippel-Lindau disease) renal cell carcinomas are associated with mutations involving the VHL gene on chromosome 3p.  The VHL gene is a tumor suppressor that inhibits hypoxia-inducible factors; mutations lead to constitutive activation of these proteins, resulting in the activation of multiple angiogenic and tumorigenic growth factors (eg, VEG-F, PDG-F).

A 60-Year-Old Man Comes to the Office Due to Dark