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79 Cards in this Set
- Front
- Back
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What genes are associated with autosomal dominant polycystic kidney disease?
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PKD1 and 2
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What does polycystin 1 affect?
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integral membrane glycoprotein in cell-cell and cell-matrix interactions
activates polycystin 2 |
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What does polycystin 2 do?
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acts as a calcium channel at the plasma membrane after translocation from the ER
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Which mutation is worse?
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PKD2 mutations have slower disease progression
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What do patients with autosomal dominant polycystic kidney disease present with?
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flank pain, hematuria, HTN, UTI, nephrolithiasis
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What are the extrarenal manifestations of autosomal dominant PKD?
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pancreas, liver, spleen, Berry aneurysm in Circle of Willis
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What cancers are people with autosomal dominant PKD predisposed to?
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renal cell carcionmas
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What does autosomal dominant PKD to the kidney?
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varying sizes of cyts, through parenchyma, into capsule, involve only some of the nephrons, eventually parenchyma becomes fibrotic and atrophic
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What do the cysts look like microscopically with autosomal dominant PKD?
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lined by single layer of benign flattened epithelial cells
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What happens with autosomal recessive PKD?
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bilateral involvement, mutation in PKHD1
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What does PKHD1 code for?
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fibrocystin
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What does fibrocystin do?
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cilia of collecting ducts
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What is Potter's sequence?
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mutation in PKHD1, stillborn child, materal oligohydramnios, pulmonary hypoplasia
congenital hepatic fibrosis |
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What does autosomal recessive PKD look like?
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kidneys symmetrically enlarged with preservation of reniform shape and accentuated fetal lobation
looks like a sponge with radially oriented, fusiform cysts replacing the entire kidney, dilated collecting ducts portal fibrosis, excess of bile ducts, dilated bile ducts, angled with interconnecting cisterns |
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How does autosomal recessive PKD progress?
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liver findings increase with age, portal hypertension, ascites, esophageal varicies, splenomegaly, dilated bile ducts
die from complications of congenital hepatic fibrosis |
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What is Caroli's Disease?
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portal hypertension, ascites, esophageal varices, splenomegaly, dilated bile ducts
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How do you treat autosomal recessive PKD?
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transplant
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What is renal dysplasia?
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aberrant differentiation of metanephric structures, cause of flank mass in newborn, bilateral, sporadic
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What happens in renal dysplasia?
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cysts replace and distort the kidneys, microscopically, immature mesenchymal elements that resemble cartilaginous nodules, dysplastic renal tubules surrounded by immature loose stroma
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What does acquired renal cystic disease look like?
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cysts irregular in shape, distribution through atropic cortex of affected patients
common cause of dialysis |
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What cancers are patients with acquired renal cystic disease at risk for?
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papillary adenomas, papillary renal cell dysplasia
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What kind of cells do the most common renal cancers come from?
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epithelial cells
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What are the most common malignant kidney tumors?
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renal cell carcinomas
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Who usually gets kidney cancer?
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men, mostly sporadic
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What are the risk factors for kidney cancer?
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tobacco smoking, industrialized areas, arsenic compounds
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What are the clinical features of kidney cancer?
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hematuria, costovertebral pain, palpable flank mass
fever, night sweats, general malaise, anemia, erythrocytosis, HTN, hypercalcemia |
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How do you diagnose renal cancer?
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ultrasound, CT scan, urine cytology, needle biopsy
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From what are renal cell carcinomas derived?
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renal tubular epithelium, different segments of the tubule
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From where do clear cell RCCs originate?
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proximal tubule
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From where do papillary RCCs originate?
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proximal tubule
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From where does chromophobe RCC derive?
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distal tubule
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What is the most common gene associated with renal cell carcinoma?
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TFE3 gene on X chromosome or chromosome 1 or 7
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What is the most common type of renal cell carcinoma?
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clear cell renal cell carcinoma
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What do clear cell carcinomas look like grossly?
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well circumscribed lesions centered on renal cortex, can bulge through renal capsule, golden yellow cut surface with areas of hemorrhage
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What is special about clear cell renal carcinomas?
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more aggressive, less survival, deletion in 3p
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What is Von Hippel Lindau Syndrome?
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RAS1 oncogene on 3p, hemangioblastomas (brain, retina)
RCC and renal cysts adrenal and pancreatic tumors |
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What are the microscopic characteristics of clear cell carcinoma?
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clear cells in islands and trabeculae, separated by small blood vessels, become eosinophilic, large irregular nuclei, bizarre nuclei, spindle cells
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How do you grade clear cell carcinomas?
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Furhman system, takes into account nuclear size and shape, presence/absence of nucleoli
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How do you stage renal cell carcinomas?
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TNM staging
tumor size, invasion into perirenal fat or renal vein, lymphatic invasion or distant metastases |
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What is the most common multifocal bilateral tumor?
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papillary renal cell carcinoma
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What are the mutations associated with renal cell carcinoma?
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trisomy 7, 16, 17, loss of Y
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How is hereditary papillary carcinoma transmitted?
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autosomal dominant
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What does papillary renal cell carcinoma look like?
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multiple bilateral tumors with papillary histology
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What is the mutation in papillary renal cell carcinoma?
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MET proto-oncogene, tyrosine kinase receptor for hepatocyte growth factor
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What does papillary renal cell carcinoma look like?
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tan and friable
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What does papillary renal cell carcinoma look like in histo?
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papillary architecture with papillae lined by neoplastic cells with clear to eosinophilic cytoplasm
fibrovascular cores with foamy histiocytes |
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What do chromophobe renal cell carcinomas look like?
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mahogany borwn, solid sheets or trabeculae of eosinophilic or clear cells
appears rigid, well delineated borders, cobblestone or cell wall appearance |
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What does chromophobe renal cell carcinoma look like by EM?
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multiple intracytoplasmic vesicles, marginalizing cytoplasmic organelles
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What is the prognosis of chromophobe renal cell carcinomas?
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good prognosis when compared with clear cell and papillary variants
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What is an oncocytoma?
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benign tumors of oncocytes
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What are oncocytes?
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epithelial tumor cells with large round nuclei with a prominent nucleoli, abundant granular and eosinophilic cytoplasm
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Where do oncocytes come from?
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intercalated cell so fcollecting ducts
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What do oncocytomas look like?
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cells in nests and sheets with hypocellular stromal background
multiple cytoplasmic mitochondria by EM |
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What do collecting duct carcinomas look like?
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nests of malignant cells within prominent fibrotic stroma, medullary location
irregular channels lined by atypical epithelium with hobnail pattern |
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When do you get urothelial carcinoma of the renal pelvis?
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60-80
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What are the symptoms of urothelial carcinoma of the renal pelvis?
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hematuria, flank pain
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How do you test for urothelial cell carcinoma of the renal pelvis?
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urine cytology
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What does urothelial cell carcinoma of teh renal pelvis look like?
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morphologically like urothelial carcinoma of bladder and urethra, papillary architecture with multiple layers of malignant urothelial cells
no foamy cells |
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What comes with urothelial carcinoma of the renal pelvis?
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bladder cancer
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What is the prognosis of urothelial carcinoma of renal pelvis?
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not good
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How do you treat renal cell carcinoma?
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surgery, arterial embolization, chemotherapy, radiation, antiangiogenics effecting blood vessel growth
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What are the pediatric renal tumors?
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wilms, congenital mesoblastic nephroma, clear cell sarcoma, rhabdoid tumor
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What is the most common congenital renal cancer?
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congenital mesoblastic nephroma
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What is a congenital mesoblastic nephroma?
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low grade spindle cell neoplasm
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What are the types of congential mesoblastic nephroma?
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cellular and classic
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Which congenital mesoblastic nephroma has a worse prognosis?
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cellular
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Who gets clear cell sarcomas?
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2-3 yos
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What comes with clear cell sarcomas?
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bone metastases
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Who gets rhabdoid tumors?
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pts younger than 24 months
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What's up with rhabdoid tumors?
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highly malignant, rare
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What is a Wilms tumor?
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unicentric, 2-5 years, precursor nephrogenic lesion in the kidney
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What is the clinical presentation of Wilms tumor?
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palpable abdominal mass, ab pain, heamturia, HTN
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What are the most common congenital abnormalities associated with Wilms tumor?
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hemihypertrophy, hypospadias, cryptorchidism, genitourinary abnormalities
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What is WAGR?
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deletion of 11p13
Wilms tumor aniridia GU abnormalities, mental retardation |
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What is Denys-Drash syndrome?
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WT1 mutation
pseduohermaphrodistism, diffuse mesangial sclerosis, Wilms tumor |
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What is Beckwith-Wiedemann syndrome?
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WT2
macrosomia, macroglossia, omphalocele |
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What are the microscopic elements of Wilms tumors?
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pale tan and fleshy
mesenchymal spindle cells, tubular elements, blastemal elements with undifferentiated small round blue cells with no definitive organization, large round nuclei, little or no cytoplasm |
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What components of Wilms make it worse?
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predominant blastemal component
anaplasia high stage age > 2 years P-glycoprotein in endothelial cells large tumor size inflammatory pseudocapsule renal sinus or intrarenal vessel invasion |
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What components of Wilms make it better?
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predominant tubular component
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