Atypical Teratoid and Rhabdoid Tumor – Causes, Symptoms & Treatment

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 mainly in small children. An atypical teratoid/rhabdoid tumor, which is an embryonic mass, is also known as ATRT.

What is an atypical teratoid/rhabdoid tumor?

An atypical teratoid/rhabdoid tumor, also known as ATRT , usually represents an embryonic mass in the patient’s brain. Young children are predominantly affected by this type of brain tumor , but ATRT has a frequency of two to three percent (related to early childhood brain tumors) quite rare. However, ATRT is highly aggressive and malicious and often fatal.

According to various studies, despite targeted treatment, more than 80 percent of the 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 his chances of treatment success.


In most known cases, ATRT occurs sporadically and without an apparent cause. Since ATRT belongs to the type of embryonic tumors, it primarily affects small children. Added to this is the aggressive growth, which usually means that it quickly causes problems. For this reason, ARTR is only diagnosed in later childhood in very few cases.

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

A lack of INI1 protein expression is also specific for 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.

Therefore, it may be possible for ATRT or another rhabdoid tumor to run in families. This is often the case, for example, when there is a so-called rhabdoid predisposition syndrome in the family. Medicine speaks of such a syndrome when malignant tumors of the brain, kidneys and soft tissues occur with striking frequency within a family history.

Symptoms, Ailments & Signs

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

Depending on the clinical picture and tumor severity and location, these signs and symptoms can be more or less pronounced in individual cases. Other symptoms that are observed less often can also be balance disorders , impairments of the visual and speech centers or the musculoskeletal system of the child. Especially since most affected patients are often very young at the time of diagnosis, some of these signs are overlooked at the beginning.

Diagnosis & History

If an atypical teratoid/rhabdoid tumor is suspected, a diagnosis is usually made using several examination methods – computed 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 deliver individual images using the sectional image method, in which the structure of the brain can be viewed very precisely. These images also show changes or injuries to the brain. 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.


Since this tumor is a highly malignant tumour, the usual complications of cancer occur. Since the cancer mainly develops in the head, complaints and complications occur specifically in this region. In most cases, these are severe headaches and dizziness.

The patient can also lose consciousness and suffer from severe fatigue. Tiredness cannot be compensated for by sleep. The dizziness also causes vomiting and nausea. Gait disturbances and coordination disorders often occur. As the disease progresses, other sense organs are also disturbed. There are problems with 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 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.

For most patients, this disease is fatal, with approximately two years of life remaining after diagnosis. In children older than three years, the chance of survival increases due to the possible radiation therapy.

When should you go to the doctor?

The sooner this tumor can be diagnosed and removed, the better the chances of a complete cure. For this reason, a doctor should be consulted whenever the symptoms of this condition appear. These include, first and foremost, severe tiredness and exhaustion on the part of those affected.

The patients appear listless and cannot compensate for their tiredness with sleep. These symptoms are relatively uncommon, especially in children. Vomiting and nausea can also occur as a result of this tumor and are accompanied by permanent headaches or dizziness.

Therefore, if these symptoms occur, a doctor must be consulted immediately. Disorders of speech or balance and coordination can also indicate a tumor. If these disorders occur, a doctor’s examination is also necessary. Those affected may also suffer from impaired vision or hearing problems.

As a rule, a general practitioner is consulted in the first place for 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 very unfavorably located locally, complete removal of the cancer cells is only possible in the rarest of cases. Therefore, there are various procedures that can be used to support or prepare for the surgical removal of tumor cells: such as radiation or chemotherapy . This can prevent the tumor from growing any further either before or after the procedure.

As a preliminary therapy, it may be possible to achieve better removability of the tumor. As a follow-up treatment, however, the tumor can sometimes at least be prevented from further growth – but radiation only brings complete healing in very few cases, since most ATRT 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 available 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 very unfavorable. The most common sufferers of brain tumors are children. There is an 80% chance of dying from 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.

The tumor has a very strong malignant growth with or without medical attention. Within medical therapy, attempts are made to remove the tumor as completely as possible and then to prevent its recurrence. The plan often fails and healing is only temporary or not possible at all.

In most patients, the tumor is located in areas of the head that are difficult to access. There is a risk of severe brain damage during surgery. These are considered irreparable and trigger serious malfunctions. In addition to motor disorders or problems with language, there can be reduced intelligence or memory.

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


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


In the case of this disease, the person affected usually has no special or direct follow-up measures available. 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.

For this reason, early detection of this tumor is paramount to prevent further complications or symptoms. In many cases, however, the life expectancy of those affected is reduced by this disease. In some cases, the treatment itself is performed by surgery. After such a procedure, the patient should definitely rest, taking care of his body.

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

You can do that yourself

In the case of atypical teratoid and rhabdoid tumors, the prospects of recovery are relatively poor. The parents of affected children can still do something 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 recurrences, follow-up checks must be carried out again and again after 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, as long as the doctor gives his consent and the tumor does not press on muscle strands or nerve tracts.

In the case of an atypical teratoid and rhabdoid tumor, comprehensive talk therapy should always take place with the child. Young 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 in conversation with a psycho-oncologist.

If the course is severe, there is a great psychological burden. The relatives can start trauma therapy to process the loss of the child. At the same time, any organizational tasks should be completed for which the doctor responsible has a supporting role.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.