Hereditary Non-VHL Clear Cell Renal Cell Carcinoma

Overview

Hereditary Kidney Cancer And Kidney Disease

There are several kinds of hereditary kidney cancer (or renal cell carcinoma or RCC). The most well known may be the Von Hippel Lindau syndrome; other syndromes include Birt-Hogg-Dubé, Hereditary Leiomyomatosis Renal Cell Carcinoma (HLRCC), Chromosome 3 (Translocation), Tuberous Sclerosis, Familial Renal Oncocytoma. A diagnosis for one of these syndromes is often missed – people are just told they have kidney cancer. Hereditary RCC is rare, perhaps less than 5% of all kidney cancers, so many competent doctors never see a case. They are not incompetent because they do not see a connection right away. Sometimes the way to diagnose a hereditary syndrome is by linking it to other symptoms you may have, symptoms that may not be on the list that you check off when you give your doctor your health history. Diagnosis many come from linking many symptoms that many family members have. In your family, the symptoms that are manifestations of a hereditary syndrome may show up in people of different ages in different families, so it is hard for your doctor to know that they even exist.

Also, for unknown reasons, people today do develop hereditary RCC and are diagnosed as the first in the family.

It is important to know if RCC is hereditary because other family members may be affected, and because screening and treatment will be related to the underlying cause. Other issues, such as the ability to get insurance and the potential for genetic discrimination, also play a role. Some families have hereditary RCC and do not recognize it because there is only 1 case of RCC in the family, but there are other family members who have other symptoms of a hereditary syndrome (this can be especially true of families with the Von Hippel Lindau syndrome). Many pathology types are found in hereditary RCC. Typically, a person with one of the hereditary symptoms will NOT have all of the symptoms for their syndrome. Testing is available for some of the syndromes. The lists of symptoms for the syndromes or types of hereditary RCC are just overviews.

Von Hippel Lindau

Symptoms:

• renal cysts (simple and complex) and renal tumors (often bilateral, multifocal.) VHL kidney cancer is always, only, clear cell. It can metastasize and become aggressive. 28-45% of VHL patients get kidney cancer.
• hemangioblastomas of the central nervous system and eyes (can lead to blindness and paraplegia if untreated)
• endolymphatic sac tumors (tumors of the ear – can lead to hearing loss)
• pancreatic cysts and neoplasms
• pheochromocytomas in many areas of the body
• adrenal tumors

The tricky thing about VHL is making the connection. For example, in a family where one person has benign brain tumors, another kidney cancer, and another benign tumors in the back or ovarian cysts, family members will not always think to connect this. Doctors don’t always put the picture together.

There is a DNA test for VHL – the gene has been identified.

Chromosome 3 (Translocation)

Symptoms:

• Kidney tumors. This is clear cell kidney cancer, which can be connected to chromosome 3. It is very rare.

May be related in some way to VHL; not much is known about it.

HLRCC (Hereditary Leiomyomatosis Renal Cell Carcinoma)

Symptoms:

• Renal tumors (Type II Papillary). Can be very aggressive, may metastasize quickly – are often just single tumors, not multi-focal.
• Skin conditions – leiomyomata, on back, chest, arms, legs (may resemble a rash of raised red bumps)
• Uterine fibroids (usually ages 20-35) / leiomysarcoma (rare)