Week 6: Hereditary renal tumor syndromes Flashcards
What are the primary functions of the kidney?
-Waste removal
-Fluid and acid-base balance
-Regulate blood pressure
-Produce active form of vita D
-Control RBC production
Most kidney cancer occurs in what part of the kidney?
The cortex
T/F cancer in the medulla of the kidney is common
False, most occur in the cortex and cancer in the medulla is rare
Cancers in the renal pelvis may be associated with what tumor predisposition syndrome?
Lynch syndrome
What is the median age of diagnosis for renal cancer?
64 yrs
Unusual in individuals under 45yrs, rare in children
Is renal cancer more common in men or women? Does it have higher incidence in any ancestry?
- 2-fold more common in men than women
-Higher incidence in African Americans and Native American populations
What are some signs and symptoms associated with renal cancer?
-Hematuria (blood in urine)
-Flank pain
-Flank mass
-Weight loss
-Fatigue
-Anemia
Most renal cancer detected incidentally on imaging for vague abdominal complaints that may be unrelated
What is the routine screening method for renal cancer?
There isn’t one
What are the four types of treatment/surgical options for renal cancer?
- Observation/active surveillance: masses <4cm, single focus, no extension
- Partial nephrectomy: masses >4cm <7cm, multifocal, bilateral
- Radical nephrectomy
- Adjuvant therapy: for advanced stage disease and aggressive tumors
What are some risk factors for kidney cancer?
-Smoking
-Hypertension
-Obesity
-Occupational exposures
-Advanced kidney disease
-Sickle cell
-Certain medications
-Family hx
Approximately what percent of renal cancer is due to hereditary predisposition?
~4%
What are paragangliomas? If someone is found to have one, should they undergo genetic evaluation?
PGL: neuroendocrine tumors of sympathetic or parasympathetic autonomic ganglia
Up to 40% of PGLs and PCCs may be due to hereditary predisposition so recommended that all patients with these tumors undergo genetic evaluation.
What are pheochromocytomas? Should someone with a PCC undergo genetic evaluation?
PCC: neuroendocrine tumors of the adrenal gland
Up to 40% of PGLs and PCCs may be due to hereditary predisposition so recommended that all patients with these tumors undergo genetic evaluation.
What are gastrointestinal stromal tumors (GISTs)?
-Rare tumors usually of gastrointestinal mesenchymal origin
-Most of pediatric GISTs show absent SDHB on IHC
-All pediatric GISTs need genetic risk evaluation
What is the inheritance pattern, gene, and renal tumor type associated with von Hippel-Lindau?
-AD
-VHL gene
-Clear cell RCC, hemangioblastomas, pheochromocytomas
-Founder variant R200W found in Chuvash population, not associated with VHL in heterozygous state, associated with AR familial erythrocytosis type II
When is it recommended to start screening for individual with VHL?
Typically before age 1
What does management look like for VHL?
-RCC: “3cm rule”, active surveillance for tumors <3cm, nephron-sparing approach for larger tumors
-HIF2a inhibitor for adults whose disease does not require immediate surgery
Name the gene, inheritance pattern, and tumor type associated with hereditary papillary renal cancer (HPRC)?
-Gene: MET
-AD
-Type I papillary RCC
Name the gene, inheritance pattern, and tumor type associated with Birth-Hogg Dube?
-Gene: FLCN
-AD
-Chromophobe RCC, oncocytoma, hybrid, fibrofolliculomas
What are the 3 discussed benign renal tumors?
-Angiomyolipomas (more common in females)
-Oncocytomas
-Renal adenomas