B5.081 - Renal and Urinary Tumors part 1 Flashcards
3 major types of RCC
clear cell
papillary
chromophobe
types of kidney tumors
RCC
renal pelvis tumor
wilms tumor
most common kidney tumor
RCC
normal kidney
epidemiology of RCC and risks
typically older
M>F
arise from tubular epithelium
tobacco
obesity, HTN, asbestos, petroleium, heavy metals
renal failure, TB, vHL
rare familial variants seen in RCC
AD - vHL
hereditary papillary carcinoma - MET
describe clear cell carcinoma
proximal tubule origin
clear or granular cytoplasm
95% sporadic
most common subtype of RCC
clear cell
Clear cell carcinoma
clear cell carcinoma
cytogenentics of clear cell RCC
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
describe papillary carcinoma
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
papillary carcinoma
MET mt
describe features of chromophobe renal cell carcinoma
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
chromophobe carcinoma
presentation of RCC
classic triad:
- flank pain
- palpabel mass
- hematuria
“great mimicker” produces a variety of systemic sx, paraneoplastic syndrones (polycythemia, HTN, hypercaclemia)
where do RCC metastasize/invade
lungs, bones
lymph nodes, liver, adrenal, brain
tend to invade renal vein and can crawl up to VC
tx of RCC
nephrectomy or partial
chemo if metastatic
UCC
renal pelvis or anywhere covered by urothelium
UCC
confined to pelvis
presentation of UCC
they present earlier bc of location
hematuria, urinary obstruction
50% have previous or concurrent bladder tumor
invasion of UCC
commonly invade renal pelvis/calyces
risks fo UCC
analgesic nephropathy, lynch
wilms tumor features
most common primary pediatric renal tumor
nephroblastoma
2-5 yo
wilms tumor
WAGR
wilms syndrome type
Wilms
Aniridia
Genital anomalies
mental Retardation
Germline deletion 11p13 “first hit”
WT gene
PAX6 gene (for iris)
WT1 protein
critical for normal renal and gonadal development
encodes DNA binding transcription factor
Tumor suppressor gene
sporadic wilms tumor genetics
b-catenin seen in 10% sporadic, GOF
denys drash syndrome
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
beckwith wiedemann syndrome
assocated with wilms tumor
- Organomegaly
- Macroglossia
- Omphalocele
- Adrenal cytomegaly
increased tumor incidence
genetics of beckwith wiedemann syndrome
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
wilms histo
triphasic
* blastemal - small blue
*stromal - fibrous, myxoid, skeletal m
*epithelial - abortive tubules or glomeruli
anaplasia
wilms histo
large atypical cells in some wilms tumor, implications for treatment
underlying p53 mutation means resistant to chemo
wilms tumor
wilms tumor
precursor lesion for wilms
nephrogenic rest
in 100% of wilms
found in adjacent kidney, same genetic abnormalities meaning the other kidney has a high risk of getting it
wilms presentation
large abdominal mass
hematuria
abdominal pain
intestinal obstruction
HTN
pulmonary mets
