Puthoff Lecture 3 Flashcards
Inheritance of adult polycystic kidney disease?
Autosomal dominant
What does mahogany-brown and well-circumscribed with central stellate scar and large morphology describe?
Renal oncocytoma
Which form of ARPKD (children) is being described?
20% CDs cystic, hepatic fibrosis, portal HTN, die in early childhood?
Infantile
What subclass of RCC has papillary growth pattern, trisomy of 7 (loss of MET), 16, 17, loss of Y?
Prognosis?
Papillary carcinoma
Better
Inheritance pattern for Nephronopthisis Familial form?
Autosomal recessive
What are the extra-renal manifestations associated with ADPKD?
40% hepatic cysts
4-10% DIE of subarachnoid hemorrhage
25% mitral valve prolapse
82% diverticular disease
What tumor occurs in mostly men, around 60-80 y/o and has cigarette smoking, HTN, obesity, and TS ask RFs?
RCC
Which form of ARPKD (children) is being described?
Less than 10% CDs, cystic, most do not survive past adolescence
Juvenile
What genetics are associated with renal papillary adenoma?
Trisomy 7 and 17
Wilms tumor tri phasic pattern composed of what?
Stromal
Epithelial
Blastemal
What is the classic triad of Sx for RCC?
Hematuria
CVA pain
Palpable flank mass
Renal oncocytomas arise from what?
Present when?
Type A intercalated cells
Adulthood
Composition of most common type of kidney stone?
Calcium oxalate and phosphate
Xp11 translocation carcinoma has what gene translocation?
TFE3
What cancers metastasize TO the kidney?
Lung, melanoma, breast, GI, pancreas
What are the most common subtypes of autosomal recessive polycystic kidney disease?
Perinatal
Neonatal
What group of diseases is the most common genetic cause of ESRD in children and young adults?
Nephronopthisis
Order of most common childhood malignant tumors?
- Acute leukemia
- Neuroblastoma
- Retinoblastoma
- WILMS TUMOR
What RCC subtypes have a “better” prognosis?
Papillary
Chromophobe
What RCC subtypes have a “average” prognosis?
Clear cell
Where does collecting [Bellini] Duct carcinoma arise from?
Prognosis?
Medullary location
Poor
What is the most critical prognostic element in Wilms tumor?
Presence or absence of diffuse anaplasia
What stages are unfavorable in neuroblastomas?
What ages?
Absence or presence of scwhannian stroma is unfavorable?
3, 4
> 18 months
Absence
What form of autosomal recessive PKD has the worst prognosis?
Perinatal, only live a few hours
What subclass of RCC makes up 70-80% of RCC and is non-papillary, mostly sporadic, and has deletion of chromosome 3?
What gene is lost here?
Clear cell carcinoma
VHL
Urothelial carcinoma of the kidney arises from where?
What clinical manifestation?
Prognosis?
Urothelium of renal pelvis
Hematuria
Poor
What disease shows morphology of cysts localized to the corticomedullary junction and medulla?
Medullary cystic disease
What is the only chromosome expression or loss that confers a favorable prognosis for neuroblastomas?
TRKA
Dialysis acquired cystic disease predisposes to development of what?
RCC
Multiple lesions seen with papillary and clear cell types of carcinomas indicate what?
Hereditary form
PKD1 gene located on what chromosome?
PKD2?
16
4
What gene is mutated in the juvenile Nephronopthisis forms?
NPHP1 to NPHP11
What genes are mutated in medullary cystic disease?
Inheritance pattern of adult-onset form?
MCKD1 and 2
Autosomal dominant
What is the most common benign kidney neoplasm?
What defines it?
Morphology of it?
Renal papillary adenoma
Less than 1cm
Cortical, discrete, yellow-gray, small
What is described by bilateral very large kidneys, hematuria, flank pain, and chronic renal failure age 40-60?
ADPKD (adult)
What histomorphology of WILMS Tumor is favorable?
Unfavorable?
Tri phasic
Anaplastic
What disease morphology is described by well-circumscribed margins, tan-to-gray color, large, expansile tumor in lower pole in kidney?
Wilms tumor
Which disorders are considered ciliopathies?
PKD
Medullary cystic disease
Nephronophthisis
What subtype of RCC arises from type B intercalated cells and has pale eosinophilic cytoplasm with nuclear halos?
Prognosis?
Chromophobe
Better
Nephrogenic rests are precursor lesions for what?
Wilms Tumor
What tumor has a strong association with tuberous sclerosis and presents in middle-aged women?
Loss of what gene?
Angiomyolipoma
TSC1 or TSC2
90% of WILMS tumor arise with no congenital abnormalities, but 10% have associations with what?
WT1, Beta-catenin
Inheritance pattern of hereditary RCC?
Autosomal dominant
Peak age of WILMS tumor?
2-5
What RCC subtypes have a “poor” prognosis?
CD
Sarcomatoid
Medullary
