• Other people in your family have or had kidney cancer.
• You have multiple primary tumors in one or especially in both kidneys.
• You have multiple benign cysts in one or especially both kidneys.
• You have unusual tumors elsewhere in your body, either benign or malignant.
  • Multiple tumors elsewhere that are due to metastasis from a tumor arising in the kidney is extremely common and does not indicate genetic RCC.
  • People can have more than one separate kind of cancer, and to my knowledge none of the common forms of cancer such as breast cancer, prostate cancer, or lung cancer are associated with known hereditary kidney cancer syndromes.
• You were young when first diagnosed with kidney cancer (say younger than 40).
  • People with hereditary kidney cancer tend to be diagnosed at a younger than usual age (kidney cancer is most often a disease of older people). People do get kidney cancer at young ages without any known hereditary syndrome, so by itself this isn't a strong indicator, but if there are other things which suggest hereditary kidney cancer, diagnosis at a young age should further increase your suspicion.

• Review the known syndromes below.
• Talk to your doctor about your suspicions.
• See if genetic testing or other diagnostic procedures can be arranged.
• Consider Consulting the National Cancer Institute's Hereditary Kidney Cancer Program. They encourage anyone who has multiple cases of kidney cancer in their family to contact them, and I think anyone with multiple cases of kidney cancer in the family should get expert opinion on screening for relatives whether it turns out to be due to a known genetic syndrome or not.

• Consider consulting the National Cancer Institute's Hereditary Kidney Cancer Program for:
  • Expert diagnosis, treatment recommendations, and genetic counseling.
  • Participation in their genetic studies which will help future patients.
• Make sure you understand the implications for yourself and your relatives, including any future children. You should get genetic counseling.
• Help arrange appropriate screening and genetic testing for relatives who may be affected.
• Make sure your treatment takes account of your genetic syndrome. These syndromes tend to cause multiple primary tumors and treatment should take into account any possibility of future kidney tumors due to the syndrome. You may need to take special measures to preserve as much functioning kidney mass for as long as possible whole minimizing the risk of metastasis [Herring 2001].

General References on Hereditary Kidney Cancer

Choyke PL, Glenn GM, Walther MM, Zbar B, Linehan WM.

Hereditary renal cancers.

Radiology. 2003 Jan;226(1):33-46. [PubMed Abstract (will open in new window)]

Comment: This current and relatively readable review clearly describes each type of hereditary kidney cancer syndrome. I relied on it heavily for this article.

Herring JC, Enquist EG, Chernoff A, Linehan WM, Choyke PL, Walther MM.

Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience.

J Urol. 2001 Mar;165(3):777-81. [PubMed Abstract (will open in new window)]

Comment: This important paper describes how careful observation combined with surgery to remove tumors with as little damage to the kidney as possible can prevent metastasis while preserving kidney function.

Types of Hereditary Kidney Cancer

There are actually quite a few kinds of hereditary kidney cancer and I am making no attempt here to be comprehensive. Instead, I describe some of the better known of these rare syndromes. If you have multiple cases of kidney cancer in your family, you should see an expert in genetic renal cancer even if none of the syndromes I describe here seem to fit.

Von Hippel-Lindau Syndrome

This is the best known genetic cause of kidney cancer. Actually patients with VHL can any of a number of unusual tumors in various parts of their body. Kidney cancer is very common in VHL but not all VHL patients have kidney cancer. All VHL patients are at risk for kidney cancer.

Kidney Tumor Characteristics

• Multiple clear cell renal cell cancers, usually in both kidneys. There are usually also accompanied by multiple benign cysts which may include both simple and complex cysts.

Other Manifestations

VHL disease causes a great variety of other types of unusual tumors, some benign and some malignant. Many of them are related to abnormal blood vessel growth. It's common for undiagnosed patients to harbor asymptomatic tumors, and different patients have different kinds of tumors, so the apparent absence of other kinds of tumors doesn't exclude VHL.

Some of the more common tumors in VHL include:

• Benign blood vessel tumors of the central nervous system called hemangioblastomas
• Hemangioblastoma of the retina
• Adrenal gland cancers called pheochromocytomas
• Benign pancreatic cysts

Resources and Organizations

• VHL Family Alliance
• Full text of a review paper on VHL from the National Institutes of Health:
  Von Hippel Lindau Disease: Genetic, Clinical and Imaging Features
  Peter L. Choyke, M.D., Gladys M. Glenn, M.D., Ph.D., McClellan M. Walther, M.D., Nicholas J. Patronas, M.D., W. Marston Linehan, M.D., Berton Zbar, M.D.
  Radiology (March) 146:629-642,1995
  

Birt-Hogg-Dube Syndrome

Kidney Tumor Characteristics

• Not everyone with BHD has renal cancer. In fact, the majority don't. Those who do typically have multiple renal cell cancers, often in both kidneys. Occasionally, there is only a single primary tumor. RCC in the Birt-Hogg-Dube syndrome can be of any sub-type, but the frequency of chromophobe RCC is greatly enhanced, and peculiar tumors which seem to be hybrids between chromophobe RCC and benign tumors called oncocytoma are also very common. Some patients also have benign oncocytoma, or even multiple oncocytomas.

Other Manifestations

• A defining characteristic of BHD is small, hard, white, or flesh colored painless bumps on the face, neck, and upper trunk that don't go away. These tumors, called folliculomas, are actually benign tumors of the hair follicle. They usually start to appear after age 30.
• There also seems to be an increased incidence of spontaneous lung collapse possibly associated with lung cysts.

Resources and Organizations

References

Pavlovich CP, Walther MM, Eyler RA, Hewitt SM, Zbar B, Linehan WM, Merino MJ.

Renal tumors in the Birt-Hogg-Dube syndrome.

Am J Surg Pathol. 2002 Dec;26(12):1542-52. [PubMed Abstract (will open in new window)]

Comment: This review focuses on the types of kidney cancer associated with BHD including hybrid oncocytoma-chromophobe RCCs. There's not much on treatment or prognosis.

Toro JR, Glenn G, Duray P, Darling T, Weirich G, Zbar B, Linehan M, Turner ML.

Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia.

Arch Dermatol. 1999 Oct;135(10):1195-202. [PubMed Abstract (will open in new window)]

Comment: This 1999 report describes the syndrome and the types of renal cancers associated with it. Notably in this report quite a few patients had benign renal oncocytoma. I wonder if the later report [Pavlovich 2002] would have classified some of these as hybrid oncocytoma-chromophobe RCCs.

Hereditary Papillary Renal Cell Carcinoma

Kidney Cancer Characteristics

• Multiple type 1 papillary tumors, usually in both kidneys, usually without benign cysts.

Other Manifestations

• None that I know of.

Resources

• Brief Technical Review with References: Renal Cell Carcinoma, Papillary (from the Online Mendelian Inheritance in Man Database)