Renal Neoplasia Flashcards
What is an angiomyolipoma? Where is it increased in frequency?
Hamartoma comprised of blood vessels, smooth muscle and adipose tissue. Increasd frequency in tuberous sclerosis.
A patient presents with hematuria, palpable mass and flank pain. He has also been experiencing fever and weight loss. What does he have?
Renal cell carcinoma
Why does a left-sided varicocele exist with Renal cell carcinoma and not right sided?
Involvement of the left renal vein by carcinoma blocks drainage of the left spermativ vein leading to varicocele. Right renal vein drains directy into the IVC.
What is seen on histology and gross exam in Renal cell carcinoma? What gene is lost in Renal cell carcinoma?
Gross exam reveals a yellow mass. Microscopically the mos common variant exhibits clear cytoplasm. Pathogenesis involves loss of VHL (3p) tmor suppressor gene, which leads to increased IGF-1 (promotes growth) and increased HIF transcirption factor (increases VEGF adn PDGF).
What are the two origins of Renal cell carcinoma? Where are they located? Which population do they target? Unilateral or bilateral? Risk factors and examples?
Sporadic - adult males (averag age is 60 years) as a single tumor in the upper pole of the kidney. Major risk factor is cigarette smoke
Hereditary tumors - younger adults and often bilateral. Von Hippel-Lindau disease.
What is Von Hippel-Lindau disease?
It is an autosomal dominant disorder associated with inactivation of the VHL gene leading to increased risk for hemiangioblastoma of the cerebellum and renal cell carcinoma.
What is the staging of renal cell carcinoma?
T - based on size and involvement of the renal vein
N - spread to retroperitnoeal lymph nodes
A patient presents with a large, unilateral flank mass with hematuria and HTN? What does he have? What is causing the HTN? What is the average age of presentation of this disease? How do most cases arise?
Wilms tumor which a malignant kidney tumor compried of blastema (immature kidney mesenchyme), primitive glomeruli and tubules, stromal cells. Most common malignant renal tumor in children, average age is 3 years. Sporadically.
What are three syndromes associated with WILMS tumor?
- WAGR syndrome
- Denys-Drash syndrome
- Beckwith-Wiedemann syndrome
What is the WAGR syndrome? What mutation is it associated with?
Wilms tumor, Aniridia, Genital abnormalities and mental and motor Retardation. Associated with deletion of WT1 tumor suppressor gene (located at 11p13).
What is the Denys-Drash syndrome? What mutation is it associated with?
Wilms tumor, progressive renal disease and male psuedohermaphroditism. Associated with mutations of WT1.
What is the Beckwith-Wiedemann syndrome? What mutation is it associated with?
Wilms tumor, neonatal hypoglycemia, muscular hemihypertrophy, and organomegaly (including tongue). Associated with mutations in WT2 gene cluster, particularly IGF2.
