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Congenital Disease & Tumours
of Kidney and Bladder
Dr. Barbara Dunne
Congenital Anomalies of Kidney
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Agenesis
Hypoplasia
Ectopic
Horseshoe kidney
Cystic Diseases of Kidney
 Hereditary /Developmental
 Acquired
 Miscellaneous
Cystic Diseases of KidneyHereditary
Adult Polycystic Kidney Disease
 Autosomal Dominant- APKD1 on
chrom 16
 Usually progress to chronic renal
failure
 Can get cysts in liver (40%) and in
circle of willis (up to 30%)
 Cut section of
adult polycystic
kidney disease
 Cysts of various
sizes
 Some containing
fluid and blood
clot
Polycystic liver
Cystic Diseases of KidneyHereditary
Infantile Polycystic Kidney Disease
 Autosomal recessive
 Renal failure in infancy
 Congenital Hepatic Fibrosis
Cystic Disease of KidneyDevelopmental
Cystic Renal Dysplasia
 Sporadic
 Associated with ureteropelvic
abnormality
 Can be unilateral or bilateral
Cystic Diseases of Kidney
Medullary Cystic Disease
 Medullary Sponge Kidney- adults
 Familial nephronophthisis- medullary
cystic disease (FN-MCD complex)childhood
Cystic diseases of Kidney- Acquired
 Dialysis
asssociated is the
commonest
 Multiple cysts but
kidneys normal
size
Cystic diseases of Kidney-misc
 Simple Cyst
 Common finding at
autopsy
 Variable size
 Lined by cuboidal
epithelium
Renal neoplasms- Benign
 Adenoma (papillary adenoma)
 <5mm - bland papillary structures
 common- seen in up to 1/3 autopsies
Renal neoplasms- Benign
Oncocytoma
 3-5% of renal
tumours
 Tan/ mahogany
brown with central
scar
Renal neoplasms- Benign
Oncocytoma
 Nests of oncocytic
(pink) cells
 Important to
differentiate from
carcinoma- lack of
atypia
Oncocytoma
Renal neoplasms- Benign
Metanephric
adenoma
 Closely packed
tubules/papillae
 Can grow to a
large size
Metanephric adenoma
Renal Cell Carcinoma:
Epidemiology
 Overall 12th commonest cancer in
males and 17th commonest cancer in
females
 2-3 times more common in men
 Peak age in 6th and seventh decade
 Commoner in developed countries
Renal Cell Carcinoma:
Aetiology
 Tobacco smoking
 Arsenic compounds, asbestos ,
cadmium and pesticides
 ↑ Risk with ↑ BMI
 Long term haemodialysis
Renal Cell Carcinoma: Symptoms
 Haematuria, flank pain, mass
 Weight loss, anorexia, fever
 Paraneoplastic endocrine syndromes:
↑ Epo, ↑ ca ++, ↑ renin, prolactin
 Hepatic Dysfunction
 Amyloidosis
Renal Cell Carcinoma
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Clear cell (conventional ) :75%
Papillary:7-15%
Chromophobe:3-5%
Collecting Duct Carcinoma-<1%
RCC unclassified eg sarcomatoid
Others eg urothelial
Clear Cell Carcinoma:Genetics
 95% sporadic: most have somatic 3p
deletions
 5% familial:
Von- Hippel Lindau disease (VHL)
RCC, haemangioblastomas,
phaeochromocytoma
Germline 3p25-26 deletions
Loss of pVHL protein
Function of pVHL
 Involved in cell cycle regulation and
angiogenesis
 HIF1α stimulates VEGF, PDGFb, TGFa
 pVHL degrades HIF1α
 When pVHL absent- HIF1 α
accumulates-tumorigenesis is
facilitated
 VEGF is potential target for treatment
in RCC
Classic renal
cell carcinoma
Classic renal cell
carcinoma
Renal Cell Carcinoma
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Clear cell (classic) :75%
Papillary:7-15%
Chromophobe:3-5%
Collecting Duct Carcinoma-<1%
RCC unclassified eg sarcomatoid
Others eg urothelial
Papillary Renal Cell CarcinomaGenetics
 Sporadic
vast majority
Trisomy 7, 17, loss of chromosome Y
 Hereditary (HPRC)
Multiple bilateral tumours
Mutations of MET oncogene 7q31
Papillary renal cell
carcinoma
Renal Cell Carcinoma
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Clear cell (conventional ) :75%
Papillary:7-15%
Chromophobe:3-5%
Collecting Duct Carcinoma-<1%
RCC unclassified eg sarcomatoid
Others eg urothelial
Chromophobe renal
cell carcinoma
Collecting duct
carcinoma
Renal Cell Carcinoma
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Clear cell (conventional ) :75%
Papillary:7-15%
Chromophobe:3-5%
Collecting Duct Carcinoma-<1%
RCC unclassified eg sarcomatoid
Others eg urothelial
Sarcomatoid renal
cell carcinoma
Renal Cell Carcinoma- Spread of
Disease
 Haematogenous spread via renal
vein/IVC
→ Lungs
→ Bone
→ Liver
 Direct spread through capsule into
adjacent organs
Urothelial
carcinoma of
renal pelvis
Staging of Renal Carcinoma
 pT1- < 7cm, limited to kidney
 pT2->7cm, limited to kidney
 pT3-adrenal/perinephric/major vein
invasion
 pT4- Beyond Gerotas fascia
Nephroblastoma (Wilms Tumour)
 2-5 year olds
 90% sporadic
 10% associated with syndromes
WAGR-WT1 mutations, 11p13
Beckwith-Wiedemann-WT2 mut, 11p15
Wilms tumour
Non-epithelial renal neoplasm
 Angiomyolipoma
Benign
 Sporadic (80%)
or
Associated with
tuberous
sclerosis(20%)
autosomal dominant, caused by LOH at
TSC1( 9q34) or TSC2 (16p13)
Congenital Anomalies of
Bladder
 Diverticulum (can also be acquired)
 Exstrophy- failure of closure of
anterior wall of bladder
 Anormality of vesicoureteral junction
 Vesical fistulas (to vagina, rectum,
uterus)
 Persistant urachas
Bladder CarcinomaEpidemiology
 2nd commonest cancer in the UK
 Male:female ratio 3:1
 Predominantly 5th, 6th and 7th
decade
Aetiology of bladder carcinoma
 Occupational- aniline dyes,
chlorinated HC
 Cigarette smoking
 Drugs eg phenacetin,
cyclophosphamide
 Chronic irritation eg Shistosoma
haematobium ~ squamous ca
 Most are non- familial
Types of Bladder Carcinoma
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Urothelial/transitional cell carcinoma-90%
Squamous Cell -5%
Adenocarcinoma- 2%
Other-3%
small cell carcinoma
spindle cell carcinoma
lymphoepithelioma-like carcinoma
nested variant of TCC
micropapillary carcinoma
Types of Urothelial Carcinoma
 Non-invasive-papillary (pTa)
ca in-situ (pTis)
 Invasive TCC
pT1- invasion of submucosa
pT2- invasion of muscle
pT3- beyond muscle
pT4- invades other organs
Natural History of Bladder
Carcinoma
 Superficial TCC
95% 5 year survival
frequent recurrences
10-20% risk of disease progression
 Carcinoma in-situ
>50% risk of disease progression
 Muscle invasive TCC
35% 5 year survival
Mesenchymal Lesions in
Bladder
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Leiomyoma
Leiomyosarcoma
Post-operative spindle cell nodule
Inflammatory pseudotumour
Thank You