Urinary Tract

Question 1

what is the most typical presenting symptom of bladder cancer

Answer 1

Painless hematuria, maybe dysuria

Question 2

How common is bladder cancer

Answer 2

6th most common cancer in the US

Question 3

What are some treatments for bladder cancer

Answer 3

Surgery, single-dose intravesical or systemic chemotherapy, radiation

Question 4

What cancer syndromes can be associated with bladder cancer?

Answer 4

Lynch syndrome, Cowden syndrome, RB1

Question 5

How common are ureter and renal pelvis cancers?

Answer 5

Very rare, only account for 4% of urothelial malignancies

Question 6

How common is kidney cancer?

Answer 6

8th most common cancer in the US

Question 7

What are the symptoms of kidney cancer?

Answer 7

Hematuria, low back pain, fatigue, weight loss

Question 8

What are some treatments for kidney cancer?

Answer 8

Partial or total nephrectomy, chemotherapy, radiation (if mets)

Question 9

What are risk factors for bladder cancer

Answer 9

Smoking, male, chronic bladder infections/irritations, workplace exposures, not drinking enough water, chemotherapy/radiation

Question 10

What are risk factors for kidney cancer

Answer 10

Smoking, obesity, hypertension, family history, male, advanced kidney disease, workplace exposures

Question 11

What are some red flags for an inherited kidney cancer?

Answer 11

First or Second degree relative with kidney cancer, onset under 46 y/o, multiple or bilateral renal masses, personal/family history consistent with syndrome, pathology consistent with syndrome

Question 12

What pathologies of kidney cancers are associated with what genes?

Answer 12

Clear cell- VHL, BAP1
Papillary Type 1- MET
Chromophobe, hybrid, oncocytoma- FLCN
Papillary Type 2- FH
Oncocytic- SDHB, SDHC, SDHD
Angiomyolipoma- TSC1, TSC2

Question 13

What is the inheritance pattern and de novo rate for VHL?

Answer 13

AD inheritance
20% de novo rate
highly penetrant

Question 14

What are the common types of abdominal VHL lesions?

Answer 14

Renal: multiple or bilateral renal cysts, renal cell carcinoma occurs in 7-% by age 60
Pheo/PGL: usually benign, can be functional leading to hypertension
Pancreatic: benign cysts that can be numerous, but rarely symptomatic. Neuroendocrine tumors occur in about 15017% of individuals, nonfunctioning, but can be symptomatic due to the obstruction.

Question 15

What are the properties of hemangioblastomas in VHL?

Answer 15

Blood vessel-rich tumors in brain, spinal cord, or retina that generally are slow growing
Symptoms occur due to pressure on adjacent nerves and tissues (include headache, visual disturbances, pain, vomiting, or ataxia)
Not treated until symptoms arise, treated with surgery or radiation

Question 16

What are the main lesions seen in VHL?

Answer 16

Hemangioblastomas, abdominal (renal, pheo/PGL, pancreatic), endolymphatic sac tumors, epididymal/broad ligament cystadenomas

Question 17

What are the guidelines for VHL surveillance?

Answer 17

MRI of brain and total spine every 2 years starting at age 16, Abdominal ultrasounds annually starting at age 8, MRI scan of the abdomen every 2 years starting at age 16, ophthalmology evaluation annually starting at age 1, plasma or 24-hour urine tests annually starting at age 5, audiology assessment every 203 yers starting at age 5 and increasing frequency if hearing loss, tinnitus or vertigo present)

Question 18

What are the features of Wilms Tumor?

Answer 18

Most frequent kidney tumor in infants/children (avg age of onset, 3-4 years)
~10% children have association congenital malformation syndrome
May have associated hemihyperplasia and urinary tract anomalies

Question 19

Describe WAGR

Answer 19

Wilms tumor (45-50% risk)
Aniridia (no iris)
Genitourinary anomaly (cryptorchidism, nonfunctional ovaries, bicordinate uterus)
Mental Retardation (gross)
del 11p13 (WT1 and PAX6 genes included)
0.4% prevalence in children with Wilms tumor

Question 20

What syndromes can be associated with an increased risk of Wilms tumor?

Answer 20

Frasier syndrome
Denys-Drash syndrome
WAGR
Beckwith-Wiedemann syndrome
Perlman syndrome
Simpson-Golabi-Behmei syndrome
CLOVES syndrome
Sotos syndrome
9q22.3 microdeletion
Bloom syndrome
Li-Fraumeni syndrome
Alagille syndrome
Bohring-Opitz syndrome

Question 21

What adult-onset syndromes can be associated with renal cell cancer?

Answer 21

Birt-Hogg-Dube
Hereditary papillary RCC
BAP1-associated tumor predisposition syndrome
MITF-associated cancer syndrome
Hereditary leiomyomatosis and RCC
Cowden
Tuberous Sclerosis

Question 22

How common is prostate cancer?

Answer 22

3rd most common cancer in the US
1 in 9 men are diagnosed in their lifetime