Vanderbilt-Ingram Cancer Center

Family Cancer Risk Service

Rare Hereditary Cancer

Cancer can run in families because of shared environmental exposures, simply by chance; or possibly a combination of shared exposures and inherited susceptibility. However, in some families cancer is due to inheritance of an altered or mutated gene with increased risks of cancers associated with an hereditary cancer syndrome. There are several hereditary cancer syndromes that may often go unrecognized because they are not common. Several of these syndromes are described below. Our understanding of these syndromes is advancing rapidly. If your personal or family history is of concern to you or if your history sounds consistent with any of the syndromes described below, then cancer risk counseling and risk assessment may be helpful in clarifying your family cancer risks and in helping to plan appropriate cancer prevention strategies.

Multiple Endocrine Neoplasia Syndromes (MEN)

Multiple endocrine neoplasia (MEN) is an inherited disorder that leads to the growth of tumors in specific endocrine glands. There are two main types of MEN: MEN 1 and MEN 2. Families with MEN 1 are at an increased risk for developing parathyroid tumors, pancreatic tumors and/or pituitary tumors. MEN 2 is further subdivided to three subtypes: MEN 2A, FMTC (familial medullary thyroid cancer), and MEN 2B. Families with MEN 2 are at an increased risk to develop medullary thyroid cancers, and depending on the subtype of MEN 2, some families may also be at an increased risk to develop pheochromocytoma (tumors of the adrenal gland), parathyroid tumors, and/or mucosal neuromas on the lips and tongue.

The diagnosis and classification of MEN depends on your family and medical history, a clinical examination and genetic testing. If you have a personal and/or family history of medullary thyroid carcinoma, parathyroid tumors, pituitary tumors or other endocrine tumors, seeking cancer risk assessment and counsel may be a valuable service for you and your family.

Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a rare inherited cancer syndrome. Families with Li-Fraumeni have an increased risk for osteosarcomas (bone tumors), soft-tissue sarcomas, pre-menopausal breast cancer, brain tumors, adrenal cortical tumors, and acute leukemias. Family members with Li-Fraumeni syndrome are specifically at an increased risk for some childhood cancers and multiple cancers originating in different tissues.

If you have had early onset cancer, such as breast cancer, brain tumor, acute leukemia, soft tissue sarcomas, bone sarcomas, or adrenal cortical carcinoma, or if you have several family members with early onset cancer, or individuals in your family with more than one cancer diagnosis, such as sarcoma and breast cancer, then cancer risk assessment may be valuable in providing information and a plan of surveillance for you or your family.

Von Hippel-Lindau Syndrome

Von Hippel-Lindau (VHL) disease is an inherited condition characterized by abnormal growth of blood vessels in certain parts of the body. People with VHL are at risk to develop growths in their blood capillaries called angiomas or hemangioblastomas. These growths may develop in the retinas, certain areas of the brain, the spinal cord, the adrenal glands and other parts of the body. Lesions in the retina may cause retinal detachment and eventual blindness. Angiomas in the brain or spinal cord may press on nerve or brain tissue and cause symptoms such as headaches, problems with balance in walking, or weakness of arms and legs. People with VHL can also develop cysts and tumors in the kidney, pancreas, liver, or adrenal glands or in some cases renal cell carcinoma.

If you have had angiomas, and/or hemangioblastomas, or if you have several family members with angiomas, and/or hemangioblastomas, you may benefit from an evaluation and cancer risk counseling.

Familial Malignant Melanoma Syndrome

The incidence of melanoma is approximately 1 in 70 in the Caucasian population; approximately 5 to 10% of cutaneous malignant melanoma is thought to be hereditary, (familial malignant melanoma syndrome). These families are characterized by multiple family members with early age of onset malignant melanoma. These families are also at an increased risk for pancreatic cancer. Approximately 20 - 40% of families with familial malignant melanoma syndrome have an alteration (mutation) in a gene called CDKN4A (p16).

If you have two or more relatives on the same side of the family affected with malignant melanoma (especially at an early age), or if you and/or a close relative have a history of multiple primary melanoma, or if you have a family history of both malignant melanoma and pancreatic cancer you may benefit from cancer risk assessment and counseling.

Vanderbilt-Ingram Cancer Center
Family Cancer Risk Service
Vanderbilt Health-One Hundred Oaks
719 Thompson Lane Suite 25107
Nashville, TN 37204

(615) 343-0738
or toll-free (877) 688-7555