Tuberous Sclerosis Syndrome

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What is tuberous sclerosis complex?

Tuberous sclerosis complex (TSC) is a hereditary condition associated with changes in the skin, brain, kidney, and heart. Seizures are a frequent complication, and some people with TSC have learning disabilities.

Skin changes are the most noticeable sign of TSC and are present in nearly all people with the condition. While the skin changes do not have serious medical consequences, they can affect a person's appearance. There are multiple features that have been associated with TSC. The number of features present and the severity of symptoms can vary among people with TSC, even within the same family. More information about the features of TSC is below.

Although the overall cancer risk associated with TSC is low, people with TSC do have an increased risk of a specific type of brain cancercalled giant cell astrocytoma and an increased risk of kidney cancer.

What causes TSC?

TSC is a genetic condition. This means that the cancer risk and other features of TSC can be passed from generation to generation in a family. So far, two genes have been associated with TSC; they are called TSC1 and TSC2. A mutation (alteration) in either of these genes gives a person an increased risk of developing kidney cancer and other symptoms of TSC. Research is ongoing to learn more about TSC.

How is TSC inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. TSC follows an autosomal dominant inheritance pattern, in which case a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

How common is TSC?

It is estimated that about one in 10,000 people has TSC. As many as 60% of people with TSC do not have any family history of the condition; they have a de novo (new) mutation in the TSC1 or TSC2 gene.

How is TSC diagnosed?

TSC is suspected when a person has at least one major feature and one minor feature of TSC. The features are very specific, and a careful evaluation by a doctor familiar with TSC is necessary to make the diagnosis.

Major Features:

Angiofibromas (flesh-colored tumor of blood vessels and fibrous tissue) or plaques on the face

Fibromas (fibrous tumors) around or under the fingernails or toenails

Multiple light-colored areas on the skin, known as hypomelanotic macules or ash leaf spots

Shagreen patch (rough mass of tissue on the surface of the skin)

Tubers (thickened areas) found in the brain

Nodules found in the brain

Giant cell astrocytoma

Cardiac rhabdomyoma (benign [noncancerous] heart tumor)

Angiomyolipoma of the kidney (These are benign tumors but can cause serious medical problems; there is a low risk that these tumors could become cancerous.)

Lymphangiomyomatosis (multiple cysts along the lymphatic system)

Multiple hemangioblastomas (growths made of newly formed blood vessels) of the brain, spinal cord, or eye

One or more hemangioblastomas in addition to kidney cysts, pancreatic cysts, pheochromocytoma (rare tumor that usually starts in the cells of one of the adrenal glands), or kidney cancer

Minor Features:

Multiple pits in the teeth

Bone cysts

Hamartomatous rectal polyps (overgrowth of normal tissue)

Changes in the pattern of the white matter of the brain

Fibromas of the gums

Multiple kidney cysts

“Confetti” skin lesions

Changes in the retina of the eye

Other hamartomas

If a person has a family history of TSC, that person is also suspected of having TSC if they have any features of the condition. Genetic testing for mutations in the TSC1 and TSC2 gene is available for people suspected to have TSC. However, as many as 30% of people with TSC will not have a mutation detected in one of these genes.

What are the estimated cancer risks associated with TSC?

Both brain cancers have been seen in people with TSC. The risk of kidney cancer is estimated to be about 4%. The risk of giant cell astrocytoma is estimated to be up to 14%.

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