Li-Fraumeni syndrome – causes, complaints & therapy

Li-Fraumeni syndrome

Li-Fraumeni syndrome is a disease that leads to significant tumor formations at a young age due to hereditary predispositions. The developed tumors are mostly malignant in nature and can affect the entire body. However, Li-Fraumeni syndrome occurs relatively rarely.

What is Li-Fraumeni syndrome?

Physicians and experts refer to Li-Fraumeni syndrome as a genetic defect. This defect is inherited in an autosomal dominant manner. Those affected suffer from the formation of malignant tumors at a young age or as a child. The tumors affect the entire body. Relatively often, however, tumors occur in the area of the adrenal glands. But leukemia, breast cancer and bone cancer are also common manifestations of Li-Fraumeni syndrome.

The fact is that people affected by Li-Fraumeni syndrome have a significantly higher risk of cancer. Statistically, the probability that a person under the age of 30 will develop cancer is 1 percent. In Li-Fraumeni syndrome, however, the risk increases to 50 percent. Li-Fraumeni syndrome is a relatively unknown disease that is also extremely rare.

Causes

The causes lie in the genetic defect. The defect mainly forms in the autosomes; these are those chromosomes that do not belong to the genus of sex chromosomes. In about 70 percent of all people diagnosed with Li-Fraumeni syndrome, the mutation is in the TP53 gene. This gene is crucial when it comes to the growth of the tumor (tumor suppression). If this gene is affected, it usually leads to increased tumor growth throughout the body.

However, it is possible that the gene is not mutated and yet Li-Fraumeni syndrome exists. Here, a signal disturbance in the area of tumor suppression is responsible. Predominantly people suffer from Li-Fraumeni syndrome, in which family members were already affected. However, 25 percent of all those affected have not inherited the disease; these are so-called spontaneous mutations that affect the gene TP53.

Symptoms and course

In the end, the symptoms are extremely different and diverse. The primary tumor predominantly plays an essential role. The classic symptom of Li-Fraumeni syndrome is the earlier and rapid tumor formation at a young age. People who develop cancer before the age of 45 or have relatives who also developed cancer before the age of 45 have – with high probability – Li-Fraumeni syndrome. The Li-Fraumeni syndrome is life-threatening, since mainly only malignant tumor formations develop. Depending on the region where the tumor unfolds, the disease itself also progresses. There is no cure for Li-Fraumeni syndrome.

Diagnosis

The physician determines the Li-Fraumeni syndrome by means of a genetic analysis. Predominantly people suffering from Li-Fraumeni syndrome suffer from the mutation of the TP53 gene. If the physician can detect a mutation of the named gene, the diagnosis that it is Li-Fraumeni syndrome is confirmed. Only about 30 percent of all people suffering from Li-Fraumeni syndrome have no genetic changes. Here, the physician can only make the diagnosis – in the form of the clinical appearance. Often it is suspected that it is the Li-Fraumeni syndrome; however, this cannot be confirmed 100 percent, especially if there is no gene mutation.

Complications

Li-Fraumeni syndrome is a hereditary predisposition to various cancers, with a 50 percent risk of onset of sarcoma or carcinoma. What complications the patient may face depends on many factors. First of all, it plays a role which organs are affected by tumors. Often the adrenal glands, breast, bones or central nervous system are affected by multiple tumors.

Furthermore, leukemias also occur. Less commonly, lung cancer, cancer of the gastrointestinal tract, ovarian cancer or lymphoma also occur. Each individual tumor can lead to special complications. In adrenal cancer, hormonal disorders predominate, which are manifested by changes in external sexual characteristics, high blood pressure, depression or muscle spasms. Without treatment, the disease is fatal. Breast cancer can metastasize quickly and is a common cause of death if the cancer is detected and treated too late.

In bone cancer, the prognosis depends on the type of tumor. For example, chondrosarcoma patients (cartilage sarcoma) have a very poor prognosis with a 50 percent mortality rate within the next 5 years. Tumors of the central nervous system are also associated with a very low life expectancy. Leukemias also have different prognoses. After successful tumor treatment, the patient must remain under medical treatment in order to detect and treat subsequent tumors at an early stage.

Treatment and therapy

If the doctor detects Li-Fraumeni syndrome, the subsequent therapy and treatment depends on the respective tumor. The general state of health of the patient also plays an important role. In many cases, the affected person already suffers from one or more tumors; these are often the reason why the person concerned visits the doctor and this makes the diagnosis Li-Fraumeni syndrome.

The tumors are primarily treated with priority, since otherwise there is an acute danger to life. As a rule, chemotherapy is ordered; thus, the cancer cells in the body are destroyed and subsequently prevented from spreading in the body. Surgery is also possible, but only if the doctor is confident that the entire tumor can be removed. People who suffer from Li-Fraumeni syndrome must have regular follow-up examinations. This is the only way that any tumor formations can be recognized quickly and an – individual – therapy can be started.

There is no therapy for Li-Fraumeni syndrome; in the end, the doctors only treat the symptoms or the tumors. However, there is already research that works with the use of healthy DNA, so that further tumor formation can possibly be prevented. If the Li-Fraumeni syndrome is present, it is possible that the drug Advexin will be administered at the patient’s request. This drug is prescribed when all other treatments are unsuccessful and life is in acute danger due to the progression of the disease.

Prevention

Prevention is not possible due to the fact that it is a hereditary gene mutation. If any symptoms of cancer or tumor formation occur, the fastest possible treatment is vital so that it can be removed or treated.

Dorothy Farrar

Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.

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