Referral to a clinical genetics service or familial cancer centre for assessment should be considered for all people meeting the categories below:
Pathogenic variant identified in the family |
UNTESTED adult blood relative of a person with an identified pathogenic variant in a kidney cancer predisposition gene (e.g. VHL, SDHB, MET, FLCN, FH, TSC1, TSC2, PTEN, MLH1, PMS2, MSH2, MSH6) |
Blood relative of a person with a clinical diagnosis of a familial cancer syndrome that predisposes to kidney cancer (e.g. Birt-Hogg-Dubé syndrome, hereditary leiomyomatosis and renal cell cancer, hereditary papillary renal cell carcinoma, familial paraganglioma and phaeochromocytoma, tuberous sclerosis complex, von Hippel-Lindau disease, Cowden syndrome, Lynch syndrome) |
Tumour pathology |
Characteristics that warrant referral irrespective of other factors |
Multifocal/bilateral renal tumour (benign or malignant; regardless of age) |
Renal cell carcinoma under age 45 years (regardless of histology) |
HLRCC*-associated renal cell carcinoma (regardless of age; previously known as papillary type 2 renal cell carcinoma) |
Chromophobe renal cancer or renal oncocytoma under age 50 years |
Hybrid oncocytic/chromophobe renal tumour (regardless of age) |
Succinate dehydrogenase (SDH)-deficient or fumarate hydratase (FH)-deficient renal carcinoma (regardless of age) |
Urothelial (transitional cell) carcinoma of the renal pelvis or ureter that is MMR-deficient (regardless of age) |
*HLRCC: hereditary leiomyomatosis and renal cell carcinoma
For those with a personal history of kidney cancer |
Individual characteristics that warrant referral irrespective of other factors |
Kidney cancer AND a personal or family history of one or more of:
- fibrofolliculomas
- spontaneous pneumothorax
- cutaneous leiomyomas
- multiple uterine fibroids under age 40 years
- paraganglioma or phaeochromocytoma
- haemangioblastoma of the retina or central nervous system
- pancreatic neuroendocrine tumour
- multiple pancreatic cysts
|
Kidney cancer at any age AND kidney cancer in a close relative** where that relative was either a non-smoker (diagnosed at any age) or a smoker (diagnosed under age 50 years) |
Personal history of urothelial carcinoma of the renal pelvis or ureter and one of the following:
- family history of at least 1 close relative** with colorectal or endometrial cancer diagnosed under age 50 years
- at least 2 close relatives** with a Lynch syndrome-associated cancer# diagnosed at any age
|
Individual with 1 or more renal angiomyolipoma and 1 or more of the following features:
- multiple (2 or more) angiomyolipoma
- bilateral angiomyolipoma
- another major clinical feature of tuberous sclerosis complex
- two or more renal cysts
|
Kidney cancer at any age and meets clinical diagnostic criteria for Cowden syndrome OR has a close relative** who meets clinical diagnostic criteria for Cowden syndrome |
For those with a family history of cancer |
Characteristics sufficient to warrant referral irrespective of other factors |
A person without cancer who has two or more close relatives** with kidney cancer, with at least one of the cancers diagnosed under age 50 years in smokers, or at any age in non-smokers |
**close relative = 1st or 2nd degree
#Lynch syndrome-associated cancer includes adenocarcinoma of the colorectum, small intestine, stomach, ovary, or pancreas, urothelial carcinoma of the ureter or renal pelvis, cholangiocarcinoma, brain tumour, sebaceous gland tumours, keratoacanthoma