Friday, June 21

Can rhabdoid tumor be cured?

All parents want the best for their child. Happy childhood will make their child have the best of what life can offer. An active and healthy child will have the best chance for learning and experiencing all things around them. However, not all children are lucky to have this contented childhood moment as they may be diagnosed with serious disease. In this DoctorOnCall’s article, we will be learning about one of the serious diseases that is rare but can greatly affect a child, rhabdoid tumour.

Rhabdoid tumour is a cancerous growth that affects soft tissue in the body. In most cases, it often starts in the brain and spinal cord. This is known as atypical teratoid rhabdoid tumour. Although it typically occurs in the brain or spinal cord, it may also occur in kidneys and other soft tissue such as kidneys, liver, uterus, skin, neck, lung and muscles that are attached to the bones. Rhabdoid tumours that grow outside of the brain are known as extra-cranial malignant rhabdoid tumours or malignant rhabdoid tumours.

Rhabdoid tumours are rare. It is estimated that less than 1 person per every 1 million people will have rhabdoid tumour.  Rhabdoid tumours typically occur in children below the age of 3, with the most common one in babies between 11 and 18 months old. However, older children and adults may be affected as there are cases of rhabdoid tumour in these age groups. Children, usually in their first year of life, may also have more than one rhabdoid tumour. This means that they may have brain/spinal cord rhabdoid tumour and kidney rhabdoid tumour or brain/spinal cord rhabdoid tumour and a lung or liver tumour.

Scientists are still searching on what exactly causes rhabdoid tumours but it is said due to the change of the tumour suppressor gene known as SMARCB1 gene. In rare cases, it may be caused by genetic change in the SMARCA4 gene. This type of tumour is not inherited which means it does not pass down in the family. There is a correlation between low birthweight, preterm birth, late-term delivery, twin pregnancies and babies conceived via assisted reproductive technologies such as in vitro fertilisation with the risk of acquiring rhabdoid tumour.

Symptoms depend on where the tumour initially develops. Symptoms typically begin when the growing tumour exerts pressure on the surrounding tissue. This includes abdominal pain, anaemia, headache, paralysis of limbs, nausea, vomiting, weight loss, cerebral palsy, respiratory issues and reduced ability to control eye movement. Symptoms start to appear at a variety of ages. Since symptoms are nonspecific, the best thing to do is to bring the child with any of these symptoms, especially at a very young age to see a doctor. The earlier the child gets diagnosed, the better the treatment options available.

Rhabdoid tumour may seem like any other tumour. Thus, doctors often use many tests to help diagnose. Imaging studies by MRI and CT scan can help identify how big the tumour is and where it is located. Biopsy procedures help get a closer look of the cells if it is indeed a rhabdoid tumour. At times, gene tests may be done on the cells obtained through biopsy to search for the genetic change. Almost all rhabdoid tumours have changes in the SMARCB1 gene.

Since the name of the disease itself is a tumour, parents and older age patients would be inclined to know if there is cure for rhabdoid tumour. Unfortunately, due to the disease itself is rare to be found and treated, treatment available is not standard but it does help to reduce symptoms. Treatments include surgery to remove the tumour, chemotherapy and radiation therapy. Surgery is the common treatment used to eliminate the tumour and often will be combined with chemotherapy and/or radiation therapy to kill remaining cancer cells. Doctors may use one or more treatments at a time to treat the tumour. Newer treatment such as high dose chemotherapy with stem cell transplant may be offered in some cases. The stem cells are usually removed from blood or bone marrow of the patient or a donor before high dose chemotherapy is given and then proceed with giving stem cells into the body.

The outcome of treatment depends on many factors such as the location of the tumour, how the tumour has spread and the remaining tumour even after treatment. In most cases, children with atypical teratoid rhabdoid tumours have a 5-year survival rate of 32.2{1e781a9d16cc6478d81838750705d3c8d2e591fcbcb3e2c5fe665a8d17cb5469}. Children with extra-cranial malignant rhabdoid tumours do not survive beyond a few years. However, patients that get diagnosed after the age of 2 are likely to have a better chance of survival. It is important to take note that the survival rate and outcome may not be 100{1e781a9d16cc6478d81838750705d3c8d2e591fcbcb3e2c5fe665a8d17cb5469} accurate since the disease itself is rare. Hence, it is best to talk with a doctor as each case is individualised and the patient’s responses are different. Plus, there are still ongoing studies to better understand this disease and hopefully to provide better treatment options.

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