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Kidney Cancer: Diagnosis and Evaluation
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=== Genetic counseling === * '''Benefits (2):''' *# '''May allow for more intensive evaluation of the patient for RCC and associated manifestations''' *# '''Identification of blood relatives that may be at syndromic risk''' ==== Indications ==== ===== AUA ===== *[https://pubmed.ncbi.nlm.nih.gov/28479239/ '''2021 AUA Guidelines on Renal Mass and Localized Renal Cancer'''] '''<span style="color:#ff0000">(5):</span>''' *#'''<span style="color:#ff0000">Age β€ 46 years with renal malignancy</span>''' *#'''<span style="color:#ff0000">Multifocal or bilateral renal masses</span>''' *# '''<span style="color:#ff0000">Family history (first-or second-degree relative) with a history of renal malignancy</span>''' *#'''<span style="color:#ff0000">Personal or family history suggests a familial RCC syndrome (even if kidney cancer has not been observed)</span>''' *# '''<span style="color:#ff0000">Pathology demonstrates histologic findings suggestive of such a familial RCC syndrome</span>''' *#*'''Hybrid oncocytic/chromophobe tumors are suggestive of BHD''' ===== CUA ===== *'''2013 CUA Guidelines on Genetic Screening for Hereditary Renal Cell Cancers''' *# '''Any renal tumour (benign or malignant) AND any one of the following:''' *## '''Bilaterality or multifocality''' *## '''Age of onset β€45''' *## '''1st or 2nd degree relative with any renal tumour''' *## '''Stigmata of RCC syndrome (8)''' *### '''History of pneumothorax* (*or 1st degree relative with same)''' (found in BHDS) *### '''Pulmonary lymphangiomyomatosis*''' (TSC) *### '''Childhood seizure disorder*''' (TSC) *### '''Skin leiomyomas*''' (HLRCC) *### '''Skin fibrofolliculomas/ trichodisomas*''' (BHDS) *### '''Pheochromocytoma/ paraganglioma*''' (VHL) *### '''Hemangioblastoma of the retina, brainstem, cerebellum or spinal cord*''' (VHL) *### '''Early onset of multiple uterine fibroids (<30 years of age)*''' (HLRCC) *# '''Non-ccRCC with unusual associated features (e.g., chromophobe, oncocytic or hybrid tumours)''' *# '''Patients, with or without RCC, who report a family member (any) with any one of the following:''' *## '''Von Hippel-Lindau syndrome''' *## '''Hereditary papillary renal cell cancer''' *## '''Hereditary leiomyomatosis and renal cell cancer''' *## '''Birt-Hogg-DubΓ© syndrome''' *## '''Hereditary paraganglioma/ pheochromocytoma''' *## '''Tuberous sclerosis'''
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