B5.081 - Renal and Urinary Tumors part 1

Question 1

3 major types of RCC

Answer 1

clear cell

papillary

chromophobe

Question 2

types of kidney tumors

Answer 2

RCC

renal pelvis tumor

wilms tumor

Question 3

most common kidney tumor

Answer 3

RCC

Question 4

Answer 4

normal kidney

Question 5

epidemiology of RCC and risks

Answer 5

typically older

M>F

arise from tubular epithelium

tobacco

obesity, HTN, asbestos, petroleium, heavy metals

renal failure, TB, vHL

Question 6

rare familial variants seen in RCC

Answer 6

AD - vHL

hereditary papillary carcinoma - MET

Question 7

describe clear cell carcinoma

Answer 7

proximal tubule origin

clear or granular cytoplasm

95% sporadic

Question 8

most common subtype of RCC

Answer 8

clear cell

Question 9

Answer 9

Clear cell carcinoma

Question 10

Answer 10

clear cell carcinoma

Question 11

cytogenentics of clear cell RCC

Answer 11

98% of clear cell RCC have a loss of sequence on short arm of chromosome 3, or unbalanced translocation with loss of part of 3p

3p12-326 is the location of the vHL gene

vHL is a tumor suppressor gene, loss stimulates growth and angiogenesis

Question 12

describe papillary carcinoma

Answer 12

10-15% of renal cell cancer

distal convoluted tubule origin

most common in dialysis pts

papillary growth within interstitial foam cells

familial and sporadic

trisomy 7 and 17 loss of Y

* chromosome 7: MET locus

TK receptor for hepatoycyte GF

Question 13

Answer 13

papillary carcinoma

MET mt

Question 14

describe features of chromophobe renal cell carcinoma

Answer 14

5% of renal cancers

intercalated cells of colle

cting duct origin

tumor cells have prominent cell membranes adn pale cytoplasm “vegetable cells”

halo around nucleus

multiple chromosome losses and hypodiploidy

excellent prognosis

Question 15

Answer 15

chromophobe carcinoma

Question 16

presentation of RCC

Answer 16

classic triad:

1. flank pain
2. palpabel mass
3. hematuria

“great mimicker” produces a variety of systemic sx, paraneoplastic syndrones (polycythemia, HTN, hypercaclemia)

Question 17

where do RCC metastasize/invade

Answer 17

lungs, bones

lymph nodes, liver, adrenal, brain

tend to invade renal vein and can crawl up to VC

Question 18

tx of RCC

Answer 18

nephrectomy or partial

chemo if metastatic

Question 19

UCC

Answer 19

renal pelvis or anywhere covered by urothelium

Question 20

Answer 20

UCC

confined to pelvis

Question 21

presentation of UCC

Answer 21

they present earlier bc of location

hematuria, urinary obstruction

50% have previous or concurrent bladder tumor

Question 22

invasion of UCC

Answer 22

commonly invade renal pelvis/calyces

Question 23

risks fo UCC

Answer 23

analgesic nephropathy, lynch

Question 24

wilms tumor features

Answer 24

most common primary pediatric renal tumor

nephroblastoma

2-5 yo

Question 25

Answer 25

wilms tumor

Question 26

WAGR

Answer 26

wilms syndrome type Wilms Aniridia Genital anomalies mental Retardation Germline deletion 11p13 "first hit" WT gene PAX6 gene (for iris)

Question 27

WT1 protein

Answer 27

critical for normal renal and gonadal development encodes DNA binding transcription factor Tumor suppressor gene

Question 28

sporadic wilms tumor genetics

Answer 28

b-catenin seen in 10% sporadic, GOF

Question 29

denys drash syndrome

Answer 29

associated with wilms tumor \*90% risk **1. Gonadal dysgenesis** **2. Early onset nephropathy** **3. Diffuse mesangial sclerosis** **germline mutation in WT1** - missense mutation in region of WT1 affecting DNA properties

Question 30

beckwith wiedemann syndrome

Answer 30

assocated with wilms tumor 1. Organomegaly 2. Macroglossia 3. Omphalocele 4. Adrenal cytomegaly increased tumor incidence

Question 31

genetics of beckwith wiedemann syndrome

Answer 31

genomic imprinting **11p15.5 (WT2)** genes in this region normally expressed from only 1 of 2 parental alleles with imprinting/silencing the other via methylation loss of imprinting causes tumorigenesis

Question 32

wilms histo

Answer 32

triphasic \* blastemal - small blue \*stromal - fibrous, myxoid, skeletal m \*epithelial - abortive tubules or glomeruli

Question 33

anaplasia

Answer 33

wilms histo large atypical cells in some wilms tumor, implications for treatment **underlying p53 mutation means resistant to chemo**

Question 34

Answer 34

wilms tumor

Question 35

Answer 35

wilms tumor

Question 36

precursor lesion for wilms

Answer 36

**nephrogenic rest** in 100% of wilms found in adjacent kidney, same genetic abnormalities meaning the other kidney has a high risk of getting it

Question 37

wilms presentation

Answer 37

large abdominal mass hematuria abdominal pain intestinal obstruction HTN pulmonary mets