Puthoff Lecture 3

Question 1

Inheritance of adult polycystic kidney disease?

Answer 1

Autosomal dominant

Question 2

What does mahogany-brown and well-circumscribed with central stellate scar and large morphology describe?

Answer 2

Renal oncocytoma

Question 3

Which form of ARPKD (children) is being described?

20% CDs cystic, hepatic fibrosis, portal HTN, die in early childhood?

Answer 3

Infantile

Question 4

What subclass of RCC has papillary growth pattern, trisomy of 7 (loss of MET), 16, 17, loss of Y?

Prognosis?

Answer 4

Papillary carcinoma

Better

Question 5

Inheritance pattern for Nephronopthisis Familial form?

Answer 5

Autosomal recessive

Question 6

What are the extra-renal manifestations associated with ADPKD?

Answer 6

40% hepatic cysts
4-10% DIE of subarachnoid hemorrhage
25% mitral valve prolapse
82% diverticular disease

Question 7

What tumor occurs in mostly men, around 60-80 y/o and has cigarette smoking, HTN, obesity, and TS ask RFs?

Answer 7

RCC

Question 8

Which form of ARPKD (children) is being described?

Less than 10% CDs, cystic, most do not survive past adolescence

Answer 8

Juvenile

Question 9

What genetics are associated with renal papillary adenoma?

Answer 9

Trisomy 7 and 17

Question 10

Wilms tumor tri phasic pattern composed of what?

Answer 10

Stromal
Epithelial
Blastemal

Question 11

What is the classic triad of Sx for RCC?

Answer 11

Hematuria
CVA pain
Palpable flank mass

Question 12

Renal oncocytomas arise from what?

Present when?

Answer 12

Type A intercalated cells

Adulthood

Question 13

Composition of most common type of kidney stone?

Answer 13

Calcium oxalate and phosphate

Question 14

Xp11 translocation carcinoma has what gene translocation?

Answer 14

TFE3

Question 15

What cancers metastasize TO the kidney?

Answer 15

Lung, melanoma, breast, GI, pancreas

Question 16

What are the most common subtypes of autosomal recessive polycystic kidney disease?

Answer 16

Perinatal

Neonatal

Question 17

What group of diseases is the most common genetic cause of ESRD in children and young adults?

Answer 17

Nephronopthisis

Question 18

Order of most common childhood malignant tumors?

Answer 18

1. Acute leukemia
2. Neuroblastoma
3. Retinoblastoma
4. WILMS TUMOR

Question 19

What RCC subtypes have a “better” prognosis?

Answer 19

Papillary

Chromophobe

Question 20

What RCC subtypes have a “average” prognosis?

Answer 20

Clear cell

Question 21

Where does collecting [Bellini] Duct carcinoma arise from?

Prognosis?

Answer 21

Medullary location

Poor

Question 22

What is the most critical prognostic element in Wilms tumor?

Answer 22

Presence or absence of diffuse anaplasia

Question 23

What stages are unfavorable in neuroblastomas?

What ages?

Absence or presence of scwhannian stroma is unfavorable?

Answer 23

3, 4

> 18 months

Absence

Question 24

What form of autosomal recessive PKD has the worst prognosis?

Answer 24

Perinatal, only live a few hours

Question 25

What subclass of RCC makes up 70-80% of RCC and is non-papillary, mostly sporadic, and has deletion of chromosome 3? What gene is lost here?

Answer 25

Clear cell carcinoma VHL

Question 26

Urothelial carcinoma of the kidney arises from where? What clinical manifestation? Prognosis?

Answer 26

Urothelium of renal pelvis Hematuria Poor

Question 27

What disease shows morphology of cysts localized to the corticomedullary junction and medulla?

Answer 27

Medullary cystic disease

Question 28

What is the only chromosome expression or loss that confers a favorable prognosis for neuroblastomas?

Answer 28

TRKA

Question 29

Dialysis acquired cystic disease predisposes to development of what?

Answer 29

RCC

Question 30

Multiple lesions seen with papillary and clear cell types of carcinomas indicate what?

Answer 30

Hereditary form

Question 31

PKD1 gene located on what chromosome? PKD2?

Answer 31

16 4

Question 32

What gene is mutated in the juvenile Nephronopthisis forms?

Answer 32

NPHP1 to NPHP11

Question 33

What genes are mutated in medullary cystic disease? Inheritance pattern of adult-onset form?

Answer 33

MCKD1 and 2 Autosomal dominant

Question 34

What is the most common benign kidney neoplasm? What defines it? Morphology of it?

Answer 34

Renal papillary adenoma Less than 1cm Cortical, discrete, yellow-gray, small

Question 35

What is described by bilateral very large kidneys, hematuria, flank pain, and chronic renal failure age 40-60?

Answer 35

ADPKD (adult)

Question 36

What histomorphology of WILMS Tumor is favorable? Unfavorable?

Answer 36

Tri phasic Anaplastic

Question 37

What disease morphology is described by well-circumscribed margins, tan-to-gray color, large, expansile tumor in lower pole in kidney?

Answer 37

Wilms tumor

Question 38

Which disorders are considered ciliopathies?

Answer 38

PKD Medullary cystic disease Nephronophthisis

Question 39

What subtype of RCC arises from type B intercalated cells and has pale eosinophilic cytoplasm with nuclear halos? Prognosis?

Answer 39

Chromophobe Better

Question 40

Nephrogenic rests are precursor lesions for what?

Answer 40

Wilms Tumor

Question 41

What tumor has a strong association with tuberous sclerosis and presents in middle-aged women? Loss of what gene?

Answer 41

Angiomyolipoma TSC1 or TSC2

Question 42

90% of WILMS tumor arise with no congenital abnormalities, but 10% have associations with what?

Answer 42

WT1, Beta-catenin

Question 43

Inheritance pattern of hereditary RCC?

Answer 43

Autosomal dominant

Question 44

Peak age of WILMS tumor?

Answer 44

2-5

Question 45

What RCC subtypes have a "poor" prognosis?

Answer 45

CD Sarcomatoid Medullary