What does ATRT Stand for?

Atypical teratoid and rhabdoid tumor

ATRT stands for Atypical teratoid and rhabdoid tumor.

Medicine speaks of an atypical teratoid / rhabdoid tumor in the case of a very rare and very malignant tumor disease. This affects the brain and occurs predominantly in young children. An atypical teratoid / rhabdoid tumor that is an embryonic mass is also known as ATRT.

What is an atypical teratoid / rhabdoid tumor?

According to DigoPaul, an atypical teratoid / rhabdoid tumor, also known as ATRT, usually represents an embryonic mass in the patient’s brain. Small children are predominantly affected by this type of brain tumor, but ATRT has a frequency of two to three percent (based on early childhood brain tumors) quite seldom. However, ATRT is extremely aggressive and malignant and is not infrequently fatal.

According to various studies, despite targeted treatment, more than 80 percent of affected children died within two years as a result of the disease. The reason for this is the often very unfavorable location of the tumor and its rapid growth. However, the following applies here: the younger the patient, the worse the chances of a successful treatment.

Causes

In most known cases, ATRT occurs sporadically and for no apparent cause. Since the ATRT belongs to the type of embryonic tumors, it primarily affects small children. In addition, there is the aggressive growth, which usually leads to the fact that it quickly causes discomfort. For this reason, ARTR is only diagnosed in later childhood in very few cases.

Around 85 percent of rhabdoid tumors are discovered in the patient’s first two years of life. Not only related to an ATRT, but to all rhabdoid tumors, various studies have so far been able to show that these often have the mutation (change) of chromosome 22 – more precisely the SMARCB1 gene contained therein – in common.

A lack of INI1 protein exposure is also specific for an ATRT. The tumor suppressor INI1 is also found in chromosome strand 22 and, like all tumor suppressors, is responsible for a smooth cell cycle. In the absence of tumor suppressors, cells can develop into tumor cells.

It is therefore possible that a disease with an ATRT or with another rhabdoid tumor could accumulate within a family. This is often the case, for example, if there is a so-called rhabdoid predisposition syndrome in the family. Medicine speaks of such a syndrome when malignant tumor diseases of the brain, kidneys and soft tissues occur with remarkable frequency within a family history.

Symptoms, ailments & signs

The symptoms that show up with ATRT always depend on the location and severity of the tumor. An atypical teratoid / rhabdoid tumor can occur in the posterior group of the skull as well as in the middle of the cerebral hemisphere. Overall, however, complaints and symptoms such as tiredness, listlessness, headache, dizziness, nausea and vomiting are observed.

These signs and complaints can in turn, depending on the clinical picture and tumor type and location, sometimes more and sometimes less pronounced in individual cases. Other, less frequently observed symptoms can also include disorders of balance, impairment of the visual and speech center or even the child’s musculoskeletal system. Especially because most affected patients are often very young at the time of diagnosis, some of these signs are initially overlooked.

Diagnosis & course

If an atypical teratoid / rhabdoid tumor is suspected, a diagnosis is usually made today using several examination methods – computer tomography (CT), magnetic resonance imaging (MRI) and, last but not least, a biopsy of the tumor cells. In most cases, the attending physician will proceed with the diagnosis by first having a CT or MRI of the head performed.

Both methods provide individual images in the sectional image process, in which the structure of the brain can be viewed very precisely. Changes or injuries to the brain can therefore also be seen in these images. If a tumor is discovered here, a biopsy of the affected tissue usually follows – because this is the only way to make a clear diagnosis.

Complications

Since this tumor is very malignant, the usual complications of cancer occur. Since the cancer develops mainly in the head, complaints and complications occur specifically in this region. In most cases this will be a severe headache and dizziness.

The patient can also lose consciousness and suffer from severe fatigue. The tiredness cannot be compensated by sleep. The dizziness also leads to vomiting and nausea. Gait disorders and coordination disorders also often occur. In the further course, other sensory organs are also disturbed. There are discomforts in the eyes and ears, so that balance disorders also occur.

The symptoms limit the patient’s everyday life extremely and reduce the quality of life enormously. Treatment is usually done with the help of chemotherapy. The success depends heavily on the doctor and the spread of the tumor. In most cases it is not possible to surgically remove the tumor.

The disease is fatal for most patients, with approximately two years of life remaining from diagnosis. In children older than three years, the chance of survival increases due to the possibility of radiation therapy.

When should you go to the doctor?

The sooner this tumor can be diagnosed and removed, the better the chance of a complete cure. For this reason, a doctor should be consulted whenever symptoms of this condition occur. First and foremost, this includes severe fatigue and exhaustion on the part of the person concerned.

The patients seem to be lacking in drive and cannot compensate for the tiredness with sleep either. These symptoms are relatively uncommon, especially in children. Vomiting and nausea can also occur as a result of this tumor and are accompanied by persistent headaches or dizziness.

Therefore, if these symptoms occur, a doctor must be consulted immediately. Disturbances in language or balance and coordination can also indicate a tumor. If these disorders occur, an examination by a doctor is also necessary. People may also suffer from visual or hearing problems.

As a rule, a general practitioner is primarily consulted with these complaints. Further treatment and examination then usually takes place in a hospital. With an early diagnosis, further complaints and symptoms can usually be avoided.

Treatment & Therapy

Since most atypical teratoid / rhabdoid tumors are locally very unfavorable, a complete removal of the cancer cells is only possible in the rarest of cases. That is why there are various methods with which surgical removal of the tumor cells can be supported or prepared: for example radiation or chemotherapy. This can prevent the tumor from growing further either before or after the procedure.

As a preliminary therapy, this may make it easier to remove the tumor. As a follow-up treatment, however, the tumor can sometimes at least be prevented from further growth – but only in a very few cases does irradiation bring a full cure here, since most ATRTs are very aggressive and malignant.

According to various studies, many diseases are still fatal within two years despite extensive treatment. Affected children from the age of three also have a slightly better chance of survival, since there are more effective treatment options for their therapy – radiation, for example, is only possible from the age of three.

Outlook & forecast

The prognosis of an atypical teratoid and rhabdoid tumor is to be classified as very unfavorable. The most common people with brain tumors are children. There is an 80% chance that they will die of the cancer within an average of 2 years after diagnosis. The current scientific and medical possibilities are not yet sufficient to bring about a cure or to delay the growth of the tumor to a significant extent.

With and without medical care, the tumor has a very strong malevolent growth. Medical therapy tries to remove the tumor as completely as possible and then to prevent its recurrence. Often the project fails and healing is only possible temporarily or not at all.

In most patients, the tumor is located in areas of the inside of the head that are difficult to access. In a surgical procedure there is a risk of severe brain damage. These are considered irreparable and cause serious malfunctions. In addition to motor disorders or problems with speech, reduced intelligence or memory performance can occur.

In severe cases, brain damage means that an independent life is no longer possible without daily medical help or permanent care. In these cases, the quality of life would be reduced to a considerable extent.

Prevention

An atypical teratoid / rhabdoid tumor cannot be prevented. However, parents who can be shown to have a family history of rhabdoid predisposition syndrome should always inform the treating doctor promptly – ideally before or during pregnancy.

Aftercare

With this disease there are usually no special or direct follow-up measures available to those affected. The affected person is primarily dependent on an early diagnosis so that the tumor can be recognized and treated at an early stage. The earlier the diagnosis is made, the better the further course of this disease will usually be.

For this reason, the early detection of this tumor is in the foreground so that there are no further complications or complaints. In many cases, however, this disease reduces the life expectancy of those affected. In some cases, the treatment itself takes the form of a surgical procedure. After such an operation, the patient should definitely rest and take care of his body.

Refrain from exertion or other stressful activities. Furthermore, the help and care of your own family or friends is usually very useful. This can also prevent psychological upsets. Even after a successful treatment, examinations by a doctor are usually necessary in order to detect and remove further tumors at an early stage.

You can do that yourself

With atypical teratoid and rhabdoid tumors, the chances of recovery are relatively poor. The parents of affected children can still do a lot to improve the chances of recovery.

First of all, it is important to have a detailed consultation with the pediatrician, because in this way any self-help measures can be optimally coordinated with the medical treatment. Due to the high risk of recurrence, follow-up checks must be carried out again and again after the treatment.

Parents of affected children can find support in internet forums or in self-help groups. Contact with other relatives helps to understand and accept the illness. The sick child can do moderate sport at home, provided that the doctor gives his consent and the tumor does not press on muscle cords or nerve tracts.

In the case of an atypical teratoid and rhabdoid tumor, comprehensive talk therapy should always take place with the child. Younger children in particular need support in understanding the disease. Parents can find special therapy options for sick children, for example, in a specialist clinic or by talking to a psycho-oncologist.

If the course is severe, there is a great deal of emotional stress. Relatives can begin trauma therapy to help deal with the loss of the child. In addition, any organizational tasks should be carried out for which the responsible doctor is supporting.

Atypical teratoid and rhabdoid tumor