Renal Neoplasia

Question 1

What does Angiomyolipoma stand for?

Answer 1

Angio - blood vessel
Myo - muscle
Lipo - smooth muscle/fat

Question 2

What is an Angiomyolipoma?

Answer 2

Hamartoma comprised of blood vessels, smooth muscle, and adipose tissue

Question 3

In what condition does Angiomyolipomas occur at an increased frequency?

Answer 3

Tuberous Sclerosis

Question 4

What is Renal Cell Carcinoma?

Answer 4

Malignant epithelial tumor arising from kidney tubules.

Question 5

What three symptoms are associated with Renal Cell Carcinoma?

Answer 5

1. Hematuria
2. Palpable Mass
3. Flank Pain

Question 6

What is the most common symptom of Renal Cell Carcinoma?

Answer 6

Hematuria

Question 7

How often do all three symptoms associated with Renal Cell Carcinoma occur?

Answer 7

Rarely - Only 10% of patients

Question 8

What three additional symptoms may also be present with Renal Cell Carcinoma?

Answer 8

1. Fever
2. Weight loss
3. Paraneoplastic syndrome

Question 9

What types of paraneoplastic syndromes can Renal Cell Carcinoma cause?

Answer 9

1. Inc. EPO –> reactive polycythemia
2. Inc. Renin –> HTN
3. Inc. Parathyroid Hormon Related Peptied (PTHrP) –> hyercalcemia
4. ACTH –> Cushing Syndrome

Question 10

What may Renal Cell Carcinoma rarely present with in males?

Answer 10

Left-sided varicocele

Question 11

What causes left sided variocele in Renal Cell Carcinoma?

Answer 11

Involvement of the left renal vein by carcinoma blocks drainage for the left spermatic vein leading to varicocele.

Question 12

Why is right-sided varicocele usually not seen?

Answer 12

The right spermatic vein drains directly into the IVC.

Question 13

What does Renal Cell Carcinoma look like upon gross exam?

Answer 13

Gross exam reveals a yellow mass

Question 14

What is seen in Renal Cell Carcinoma microscopically?

Answer 14

The most common variant exhibits clear cytoplasm (clear cell type)

Question 15

What is the genetic cause of Renal Cell Carcinoma?

Answer 15

Pathogenesis involves loss of VHL (3p) tumor suppressor gene

Question 16

How does loss of VHL (3p) lead to tumor growth?

Answer 16

Loss of VHL (3p) –> Increased IGF-1 (promotes growth) and increased HIF transcription factor (increases VEGF and PDGF) –> these factors promote angiogenesis and growth

Question 17

What are the two types of Renal Cell Carcinoma?

Answer 17

Tumors may be:
1. Hereditary
OR
2. Sporadic

Question 18

What do both types of Renal Cell Carcinoma involve?

Answer 18

Loss of the VHL gene

Question 19

What is the classic population that has Sporadic Renal Cell Carcinoma?

Answer 19

Classically arise in adult males (average age is 60 years)

Question 20

Where do Sporadic Renal Cell Carcinomas usually occur?

Answer 20

They occur as a single tumor in the upper pole of the kidney

Question 21

What is a major risk factor for sporadic renal cell carcinomas?

Answer 21

Cigarette smoke

Question 22

What is the classic population and presentation of Hereditary Renal Cell Carcinoma?

Answer 22

Bilateral tumors in young adults

Question 23

What is Von Hippel-Lindau disease associated with? How is it passed on?

Answer 23

• Hereditary Renal Cell Carcinoma

- Autosomal dominant disorder

Question 24

What genetic cause is Von Hippel-Lindau disease associated with?

Answer 24

Associated with inactivation of the VHL gene

Question 25

What does inactivation of the VHL gene in Von Hippel-Lindau disease lead to?

Answer 25

Hemangioblastoma of the cerebellum & renal cell carcinoma

Question 26

What are two letters used for staging of Renal Cell Carcinoma?

Answer 26

T & N

Question 27

What does the T stage represent?

Answer 27

T - based on size and involvement of the renal vein

Question 28

How often does involvement of the renal vein with Renal Cell Carcinoma occur?

Answer 28

Occurs commonly.

Question 29

What does renal vein involvement with Renal Cell Carcinoma increase the risk of?

Answer 29

Hematogenous spread to the lungs and bone!

Question 30

What does the N stage represent?

Answer 30

N - Spread to retroperitoneal lymph nodes

Question 31

What is a Wilms Tumor and what is it composed of?

Answer 31

Malignant kidney tumor comprised of blastema (immature kidney mesenchyme), primitive glomeruli and tubules, and stromal cells

Question 32

What is blastema?

Answer 32

- Primitive tissue from which the kidney forms! | - Immature kidney mesenchyme

Question 33

What is the most common malignant renal tumor in children? At what age does it occur on average?

Answer 33

Wilms Tumor, Age 3

Question 34

What does Wilms tumor usually present with?

Answer 34

1. Large, unilateral flank mass 2. Hematuria 3. Hypertension (due to renin secretion)

Question 35

What percentage of cases of Wilms tumor are sporadic?

Answer 35

90%

Question 36

What three syndromes are syndromic wilms tumors seen in?

Answer 36

1. WAGR syndrome 2. Denys-Drash syndrome 3. Beckwith-Wiedemann syndrome

Question 37

What is WAGR syndrome?

Answer 37

Wilms tumor Aniridia (absence of the iris usually involving both eyes) Genital abnormalities Mental and Motor Retardation

Question 38

What genetic abnormality is WAGR syndrome associated with?

Answer 38

Deletion of WT1 tumor suppressor gene (located at 11p13)

Question 39

What three traits is Denys-Drash Syndrome associated with?

Answer 39

1. Wilms tumor 2. Progressive renal (glomerular) disease 3. Male pseudohermaphroditism

Question 40

What genetic abnormality is Denys-Drash syndrome associated with?

Answer 40

Mutations in WT1

Question 41

What traits are associated with Beckwith-Wiedemann syndrome?

Answer 41

- Wilms tumor - Neonatal hypoglycemia - Muscular hemihypertrophy - Organomegaly (including tongue)

Question 42

What genetic abnormality is associated with Beckwith-Wiedmann syndrome?

Answer 42

Mutations in WT2 gene cluster (imprinted genes at 11p15.5), particularly IGF-2