CONSTITUTIONAL FACTORS
HEREDITY
It is estimated that 1 to 4% of kidney cancers are hereditary. Their age of onset is earlier than in the non-hereditary forms.
Heredity itself seems to play an important role in the genesis of certain kidney cancers. If a member of your first-degree family has had kidney cancer, your risk of developing kidney cancer is approximately doubled. If you are in this case, follow up regularly!
FAMILIAL HEREDITARY TUMOR SYNDROMES
VON HIPPEL-LINDAU DISEASE
It is a rare genetic condition characterized by abnormal vessel formation. In these patients, the risk of developing kidney cancer is very high.
It is an orphan disease, the incidence is 3 per 100,000 and the average age of discovery is 25 years. This represents approximately 1,500 cases in France.
A little throwback
In 1904, two ophthalmologists, one English, Edward Treacher Collins, the other German, Eugen Von Hippel were the first to describe this family disease which gives retinal hemangioblastoma. The Swedish pathologist Arvid Lindau (1892 - 1958) for his part, described the abnormalities of the central nervous system.
It belongs to the group of phakomatoses
Their origin is a dysfunction of the embryonic ectodermal tissue which gives rise to both the skin, the nervous system and the eye. These three elements will therefore be affected to varying degrees in all these diseases.
Von Hippel Lindau's disease is characterized by tumors of the vessels, damage to organs such as the liver, pancreas and adrenals. It is often associated with a brain tumor called brain stem or cerebellar hemangioblastoma and clear cell kidney cancer.
A genetic mutation...
It is an autosomal dominant hereditary disease with high penetrance (90%) by mutation of the short arm of chromosome 3 (3p25-p26). This mutation results in the inactivation of the VH L gene which plays a fundamental role in angiogenesis , by repressing the expression of the transcription factor HIF ( Hypoxia Induced Factor ).
The HIF transcription factor is itself responsible for the activation of more than 40 genes involved in metabolism, cell growth and angiogenesis .
If you are a carrier of this mutation, monitoring of your two kidneys by ultrasound and/or scanner is necessary because of a possible bilateral or multifocal tumours.
information go to oncogenetic consultation
AN ONCOGENETICS CONSULTATION RECOMMENDED...
A single renal tumor
before the age of 50 (clear cell carcinoma)
or regardless of age (papillary type 1, papillary type 2, chromophobe, hybrid oncocytoma-chromophobe tumor)
Multiple or bilateral renal tumors
A family history of tumor renal
An association with other clinical manifestations (personal or in relatives)
OTHER HEREDITARY DISEASES
Familial common hereditary clear cell kidney cancer
It is suspected if there are at least 2 cases in 1st degree relatives with an age of early onset before 40 years or bilateral or multifocal cancers.
Rarely...
Kidney cancers can also appear in families with tumor syndromes such as Birt-Hogg-Dube syndrome , familial cutaneous leiomyomatosis, Sturge Weber disease and tuberous sclerosis Bourneville .
OTHER HEREDITARY DISEASES
Familial common hereditary clear cell kidney cancer
It is suspected if there are at least 2 cases in 1st degree relatives with an age of early onset before 40 years or bilateral or multifocal cancers.
Rarely...
Kidney cancers can also appear in families with tumor syndromes such as Birt-Hogg-Dube syndrome , familial cutaneous leiomyomatosis, Sturge Weber disease and tuberous sclerosis Bourneville .
@ You will find details of these orphan diseases on the ORPHANET website .
HEREDITARY PREDISPOSITIONS TO KIDNEY CANCER
Sickness | Causal gene | Frequency and type of kidney tumors | Other clinical manifestations |
|---|---|---|---|
Von Hippel–Lindau disease | VHL | 40–70% clear cell carcinomas | CNS (60%) and retinal (50%) hemangioblastomas |
Hereditary papillary renal cancer | MET | 60% type 1 papillary carcinoma | None |
Hereditary cutaneous-uterine leiomyomatosis with renal cancer | FH | 15% type 2 papillary carcinoma, collecting duct carcinoma | Cutaneous (75%) and uterine (100% of women) leiomyomas |
HDB | 25% chromophobe cancers, hybrid tumors, oncocytomas, clear cell carcinomas | Cutaneous fibro-folliculomas (75%), |
OTHER CONSTITUTIONAL FACTORS
Kidney cancer is much more common in men than in women, about two men for every woman.
Most patients are in their 60s or older when kidney cancer is discovered. The median age at diagnosis is 67 years.
ANSWERS TO SOME OF YOUR QUESTIONS...
| I am the only one in my family to have kidney cancer. What is the risk for other family members? | Other person(s) in my family have had kidney cancer Is it hereditary kidney cancer? |
|---|---|
No increased risk demonstrated | Possible if Von Hippel-Lindau disease or case in the first degree family |
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