Congenital Disease & Tumours of Kidney and Bladder

Dr. Barbara Dunne

Congenital Anomalies of Kidney Agenesis Hypoplasia Ectopic Horseshoe kidney

Cystic Diseases of Kidney

Hereditary /Developmental Acquired Miscellaneous

Cystic Diseases of Kidney- Hereditary

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 Kidney- Hereditary

Infantile Polycystic Kidney Disease Autosomal recessive Renal failure in infancy Congenital Hepatic Fibrosis

Cystic Disease of Kidney- Developmental

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

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

Clear cell (classic) :75% Papillary:7-15% Chromophobe:3-5% Collecting Duct Carcinoma-<1% RCC unclassified eg sarcomatoid Others eg urothelial

Papillary Renal Cell Carcinoma-Genetics

Sporadicvast majorityTrisomy 7, 17, loss of chromosome Y Hereditary (HPRC)Multiple bilateral tumoursMutations of MET oncogene 7q31

Papillary renal cell carcinoma

Renal Cell Carcinoma

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

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 syndromesWAGR-WT1 mutations, 11p13Beckwith-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 Carcinoma- Epidemiology

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 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 TCCpT1- invasion of submucosapT2- invasion of musclepT3- beyond musclepT4- 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

Leiomyoma Leiomyosarcoma Post-operative spindle cell nodule Inflammatory pseudotumour

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