Medicine refers to an atypical teratoid/rhabdoid tumor as a quite rare and very malignant tumor disease. This affects the brain and occurs predominantly in young children. An atypical teratoid/rhabdoid tumor, which is an embryonal space-occupying tumor, is also called an ATRT.
What is an atypical teratoid/rhabdoid tumor?
An atypical teratoid/rhabdoid tumor, also referred to as ATRT, usually represents an embryonal space-occupying lesion in the patient’s brain. Infants are predominantly affected by this type of brain tumor, yet ATRT is quite rare, with an incidence of two to three percent (based on early childhood brain tumors). However, ATRT is highly aggressive and malignant and not infrequently fatal. According to various studies, more than 80 percent of affected children die within two years as a result of the disease, despite targeted treatment. 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 or her chances of successful treatment.
Causes
In most known cases, ATRT occurs sporadically and without an apparent cause. Because ATRT belongs to the type of embryonal tumors, it primarily affects young children. In addition, its aggressive growth usually causes it to quickly cause discomfort. For this reason, very few cases of ARTR are diagnosed later in childhood. About 85 percent of rhabdoid tumors are discovered in the first two years of the patient’s life. Not only in relation to an ATRT, but to all rhabdoid tumors, various studies have so far been able to demonstrate that these often have the mutation (alteration) of chromosome 22 – more precisely of the SMARCB1 gene contained therein – in common. Moreover, a lack of INI1 protein expression is 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 may develop into tumor cells. Therefore, under certain circumstances, it is possible that a disease with an ATRT or with another rhabdoid tumor accumulates 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 striking frequency within a family history.
Symptoms, complaints, and signs
The symptomatology that presents with an ATRT always depends on the location and extent of the tumor. An atypical teratoid/rhabdoid tumor can occur as well in the posterior cranial group as in the middle of the cerebral hemisphere. However, symptoms such as fatigue, listlessness, headache, dizziness, nausea and vomiting are frequently observed. However, these signs and symptoms may be more or less pronounced in individual cases, depending on the clinical picture and the extent and location of the tumor. Other, less frequently observed symptoms may also include balance disorders, impairment of the visual and speech centers, or even of the child’s musculoskeletal system. Primarily because most affected patients are often very young at the time of diagnosis, some of these signs are overlooked at the onset.
Diagnosis and course
Today, a diagnosis of a suspected atypical teratoid/rhabdoid tumor is usually made by several examination methods – by computed tomography (CT), by magnetic resonance imaging (MRI), and, last but not least, by a biopsy of the tumor cells. In most cases, the treating physician will proceed with the diagnosis by first having a CT or MRI of the head performed. Both procedures provide individual images in cross-section, in which the condition of the brain can be viewed in great detail. Changes or injuries to the brain can therefore also be seen on 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 is a highly malignant tumor, the usual complications of cancer occur here.Since the cancer develops mainly in the head, discomfort and complications occur specifically in this region. In most cases, the symptoms are severe headaches and dizziness. The patient may also lose consciousness and suffer from severe fatigue. The fatigue cannot be compensated by sleep. The dizziness also causes vomiting and nausea. Often, gait disturbances and coordination disorders also occur. In the further course, other sensory organs are also disturbed. There are complaints of the eyes and the ears, so that also balance disturbances occur. The complaints extremely limit the patient’s everyday life and reduce the quality of life enormously. Treatment is usually carried out with the help of chemotherapy. The success depends strongly on the doctor and the spread of the tumor. In most cases it is not possible to remove the tumor surgically. 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 he possible radiation therapy.
When should you see a doctor?
The earlier this tumor can be diagnosed and removed, the better the chances of a complete cure. For this reason, a doctor should always be consulted when the symptoms of this disease appear. These include, first and foremost, severe fatigue and exhaustion of the affected person. Patients appear listless and are unable to compensate for their fatigue by sleeping. These symptoms are relatively uncommon, especially in children. Vomiting and nausea can also occur as a result of this tumor and are accompanied by constant headaches or feelings of dizziness. Therefore, if these complaints occur, a doctor must be consulted immediately. Disturbances in speech or balance and coordination may also be indicative of a tumor. If these disorders occur, an examination by a doctor is also necessary. The affected person may also suffer from visual disturbances or hearing difficulties. As a rule, a general practitioner is consulted in the first instance for these complaints. Further treatment and examination then usually takes place in a hospital. If diagnosed early, further complaints and symptoms can usually be avoided.
Treatment and therapy
Because most atypical teratoid/rhabdoid tumors have a very unfavorable local location, complete removal of the cancer cells is only possible in the rarest cases. Therefore, there are various procedures that can be used to support or even prepare for surgical removal of the tumor cells: for example, radiation or chemotherapy. In this way, the tumor can be prevented from growing further either before or after the operation. As a pre-therapy, this may allow the tumor to be removed more easily. As post-treatment, however, the tumor can sometimes at least be prevented from growing further – but only in very few cases does radiation therapy bring about a complete cure, 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 over the age of three also have a minimally better chance of survival because more effective treatment options are available for their therapy – radiation, for example, is only possible after the age of three.
Outlook and prognosis
The prognosis of atypical teratoid and rhabdoid tumor is considered to be very unfavorable. The most frequent sufferers of the brain tumor are children. They have an 80% probability of dying from the cancer within an average of 2 years after diagnosis. The current scientific and medical possibilities are not yet sufficient to achieve a cure or to delay the growth of the tumor to a significant extent. The tumor has a very strong malignant growth with as well as without medical care. Within a medical therapy, an attempt is made to remove the tumor as completely as possible and then to prevent its recurrence. Often the attempt fails and the cure 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.In a surgical procedure, there is a risk of severe brain damage. These are considered irreparable and trigger serious functional disorders. In addition to motor disorders or problems with speech, there may be reduced intelligence or memory. In severe cases, brain damage means that independent living is no longer possible without daily medical assistance or permanent nursing care. In these cases, the quality of life would be reduced to a significant extent.
Prevention
Atypical teratoid/rhabdoid tumor cannot be prevented. However, parents who have a proven family history of rhabdoid predisposition syndrome should always inform their treating physician promptly-at best, before or during pregnancy.
Follow-up
In this disease, there are usually no special or direct measures of aftercare available to the affected person. In this case, the affected person is primarily dependent on an early diagnosis, so that the tumor can be detected and treated at an early stage. The earlier the diagnosis is made, the better the further course of the disease. For this reason, the early detection of this tumor is in the foreground, so that it does not lead to further complications or complaints. In many cases, however, this disease reduces the life expectancy of the affected person. In some cases, the treatment itself is carried out by means of a surgical intervention. After such an operation, the patient should in any case rest and take care of his body. Efforts or other stressful activities should be avoided. 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 thereby usually frequently necessary in order to detect further tumors early and also to remove them.
This is what you can do yourself
In the case of atypical teratoid and rhabdoid tumors, the prospects for cure are relatively poor. Nevertheless, the parents of affected children can do a few things to improve the chances of cure. 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 examinations must also be carried out after treatment. Parents of affected children can find support in Internet forums or in self-help groups. Contact with other relatives helps them to understand and accept the disease. The affected child can do moderate sports at home, provided the doctor gives his or her consent and the tumor does not press on muscle cords or nerve tracts. In the case of an atypical teratoid and rhabdoid tumor, there should always be comprehensive talk therapy with the child. Younger children in particular need support in understanding the disease. Parents can find special therapy options for children with the disease, for example, in a specialized clinic or by talking to a psychooncologist. In the case of a severe course of the disease, there is a great emotional burden. The relatives can start a trauma therapy to cope with the loss of the child. Accompanying this, any organizational tasks should be taken care of, in which the responsible physician is supportive.
