Renal Neoplasia Flashcards
What does Angiomyolipoma stand for?
Angio - blood vessel
Myo - muscle
Lipo - smooth muscle/fat
What is an Angiomyolipoma?
Hamartoma comprised of blood vessels, smooth muscle, and adipose tissue
In what condition does Angiomyolipomas occur at an increased frequency?
Tuberous Sclerosis
What is Renal Cell Carcinoma?
Malignant epithelial tumor arising from kidney tubules.
What three symptoms are associated with Renal Cell Carcinoma?
- Hematuria
- Palpable Mass
- Flank Pain
What is the most common symptom of Renal Cell Carcinoma?
Hematuria
How often do all three symptoms associated with Renal Cell Carcinoma occur?
Rarely - Only 10% of patients
What three additional symptoms may also be present with Renal Cell Carcinoma?
- Fever
- Weight loss
- Paraneoplastic syndrome
What types of paraneoplastic syndromes can Renal Cell Carcinoma cause?
- Inc. EPO –> reactive polycythemia
- Inc. Renin –> HTN
- Inc. Parathyroid Hormon Related Peptied (PTHrP) –> hyercalcemia
- ACTH –> Cushing Syndrome
What may Renal Cell Carcinoma rarely present with in males?
Left-sided varicocele
What causes left sided variocele in Renal Cell Carcinoma?
Involvement of the left renal vein by carcinoma blocks drainage for the left spermatic vein leading to varicocele.
Why is right-sided varicocele usually not seen?
The right spermatic vein drains directly into the IVC.
What does Renal Cell Carcinoma look like upon gross exam?
Gross exam reveals a yellow mass
What is seen in Renal Cell Carcinoma microscopically?
The most common variant exhibits clear cytoplasm (clear cell type)
What is the genetic cause of Renal Cell Carcinoma?
Pathogenesis involves loss of VHL (3p) tumor suppressor gene
How does loss of VHL (3p) lead to tumor growth?
Loss of VHL (3p) –> Increased IGF-1 (promotes growth) and increased HIF transcription factor (increases VEGF and PDGF) –> these factors promote angiogenesis and growth
What are the two types of Renal Cell Carcinoma?
Tumors may be:
1. Hereditary
OR
2. Sporadic
What do both types of Renal Cell Carcinoma involve?
Loss of the VHL gene
What is the classic population that has Sporadic Renal Cell Carcinoma?
Classically arise in adult males (average age is 60 years)
Where do Sporadic Renal Cell Carcinomas usually occur?
They occur as a single tumor in the upper pole of the kidney
What is a major risk factor for sporadic renal cell carcinomas?
Cigarette smoke
What is the classic population and presentation of Hereditary Renal Cell Carcinoma?
Bilateral tumors in young adults
What is Von Hippel-Lindau disease associated with? How is it passed on?
- Hereditary Renal Cell Carcinoma
- Autosomal dominant disorder
What genetic cause is Von Hippel-Lindau disease associated with?
Associated with inactivation of the VHL gene
What does inactivation of the VHL gene in Von Hippel-Lindau disease lead to?
Hemangioblastoma of the cerebellum & renal cell carcinoma
What are two letters used for staging of Renal Cell Carcinoma?
T & N
What does the T stage represent?
T - based on size and involvement of the renal vein
How often does involvement of the renal vein with Renal Cell Carcinoma occur?
Occurs commonly.
What does renal vein involvement with Renal Cell Carcinoma increase the risk of?
Hematogenous spread to the lungs and bone!
What does the N stage represent?
N - Spread to retroperitoneal lymph nodes
What is a Wilms Tumor and what is it composed of?
Malignant kidney tumor comprised of blastema (immature kidney mesenchyme), primitive glomeruli and tubules, and stromal cells
What is blastema?
- Primitive tissue from which the kidney forms!
- Immature kidney mesenchyme
What is the most common malignant renal tumor in children? At what age does it occur on average?
Wilms Tumor, Age 3
What does Wilms tumor usually present with?
- Large, unilateral flank mass
- Hematuria
- Hypertension (due to renin secretion)
What percentage of cases of Wilms tumor are sporadic?
90%
What three syndromes are syndromic wilms tumors seen in?
- WAGR syndrome
- Denys-Drash syndrome
- Beckwith-Wiedemann syndrome
What is WAGR syndrome?
Wilms tumor
Aniridia (absence of the iris usually involving both eyes)
Genital abnormalities
Mental and Motor Retardation
What genetic abnormality is WAGR syndrome associated with?
Deletion of WT1 tumor suppressor gene (located at 11p13)
What three traits is Denys-Drash Syndrome associated with?
- Wilms tumor
- Progressive renal (glomerular) disease
- Male pseudohermaphroditism
What genetic abnormality is Denys-Drash syndrome associated with?
Mutations in WT1
What traits are associated with Beckwith-Wiedemann syndrome?
- Wilms tumor
- Neonatal hypoglycemia
- Muscular hemihypertrophy
- Organomegaly (including tongue)
What genetic abnormality is associated with Beckwith-Wiedmann syndrome?
Mutations in WT2 gene cluster (imprinted genes at 11p15.5), particularly IGF-2
