A 32-year-old woman is evaluated for pain and a palpable mass in the right flank. Imaging studies reveal a large mass arising from the right kidney and similar smaller masses in the left kidney. Surgery to remove the right-sided tumor along with the right kidney is performed; a cross section of the specimen is shown in the image below. Histopathologic evaluation shows that the mass is composed of fat, smooth muscle, and blood vessels. This patient is most likely to have which of the following additional findings?

Question

A 32-year-old woman is evaluated for pain and a palpable mass in the right flank.  Imaging studies reveal a large mass arising from the right kidney and similar smaller masses in the left kidney.  Surgery to remove the right-sided tumor along with the right kidney is performed; a cross section of the specimen is shown in the image below.  Histopathologic evaluation shows that the mass is composed of fat, smooth muscle, and blood vessels.  This patient is most likely to have which of the following additional findings?

Quizplus · Accepted Answer

Renal angiomyolipoma is a benign tumor composed of blood vessels (angio), smooth muscle (myo), and fat (lipoma). Grossly, it is typically a well-circumscribed mass with varying amounts of blood vessels or hemorrhage, tan-white smooth muscle, and yellow adipose tissue. Angiomyolipomas are associated with tuberous sclerosis. In patients with bilateral renal angiomyolipomas, the incidence of tuberous sclerosis is 80%-90%. Tuberous sclerosis is an autosomal dominant condition characterized by cortical tubers and subependymal hamartomas in the brain, with consequent seizures and cognitive disability. Cardiac rhabdomyomas, facial angiofibromas, and leaf-shaped patches of skin lacking pigment (ash-leaf patches) can also occur. (Choice A) Neurofibromatosis type 2 is an autosomal dominant disorder marked by bilateral acoustic neuromas. These patients may also develop multiple meningiomas, gliomas, and ependymomas of the spinal cord. (Choice C) Sturge-Weber syndrome is a rare congenital vascular disorder characterized by a facial port-wine stain and leptomeningeal capillary-venous malformation. (Choice D) Cerebellar hemangioblastomas, retinal hemangiomas, and liver cysts are seen in von Hippel-Lindau disease, an autosomal dominant condition. These patients are at high risk for bilateral renal cell carcinomas. Clear cell renal cell carcinoma can grossly resemble renal angiomyolipoma, but microscopic examination typically shows tumor cells with abundant clear cytoplasm. (Choice E) Neurofibromatosis type 1 is an autosomal dominant disorder characterized by neurofibromas (plexiform and solitary), optic gliomas, pigmented nodules of the iris (Lisch nodules), and cutaneous hyperpigmented macules (café-au-lait spots). (Choice F) Patients with hereditary hemorrhagic telangiectasia (also called Osler-Weber-Rendu syndrome) develop multiple telangiectasias of the skin and mucosa. The typical presentation is recurrent epistaxis or gastrointestinal bleeding (melena). Educational objective: Renal angiomyolipoma is a benign tumor composed of blood vessels, smooth muscle, and fat. Bilateral renal angiomyolipomas are associated with tuberous sclerosis, an autosomal dominant condition. __________ References: Pictorial review of tuberous sclerosis in various organs. (http://www.ncbi.nlm.nih.gov/pubmed/18772274)

A 32-Year-Old Woman Is Evaluated for Pain and a Palpable