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Rhabdoid tumours, the genetics
Rhabdoid tumours are rare tumours that mainly occur in children. If you are reading this information, your child or a child close to you may have been diagnosed with a rhabdoid tumour which may be a:
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Malignant rhabdoid tumour (MRT)
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Extra renal rhabdoid tumour (ERRT)
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Atypical teratoid / rhabdoid tumour (AT/RT).
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Most rhabdoid tumours that occur in children are usually simply due to chance. This is know as sporadic.
However, more rarely, an increased chance of developing rhabdoid tumours can be passed on from parents (inherited) as well.
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In these cases, rhabdoid tumours may occur as part of a hereditary syndrome called Rhabdoid Tumour Predisposition Syndrome (RTPS).
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Explaining the genetics
When that many copies are made, occasionally microscopic error or alterations can slip in, a little like missing the edge off a page when copying.
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These tiny alterations may be all it takes to make a cell that does not function properly. Most of these damaged cells are picked up and removed by the body, however, occasionally one can get missed. It is then that cancer can develop.
The human body is made up of tiny cells. Each cell contains about 30,000 genes. Genes carry the information that controls how we grow, look and to keep us healthy.
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Our genes are stored on chromosomes, a little like books in a library. There are 46 chromosomes (23 pairs) present in each cell of the body. It is on these that all our genetic information is stored.
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For us to grow and function, our cells need to multiply. To do this, they make millions of copies of themselves over and over again. A little like making a photocopy of themselves.
What happens in rhabdoid tumours?
In the case of rhabdoid tumours, around two thirds of cases are thought to develop from a simple copying or ‘translation’ error of the INI1 (SMARCB1) gene that occurred when cells replicated.
The INI 1 gene is found on chromosome 22, and we all have 2 copies of this gene.
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When this damaged gene is missed in a cell and it starts multiplying quickly, sometimes the body cannot stop the growth, resulting in the growth of a rhabdoid tumour.
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In these cases, the condition is not genetic, and other members of the family not thought to be at increased risk of developing this form of cancer. It has simply happened due to chance (sporadically). There is nothing that could have been done to stop this happening.
For more information on genetics, see: Testing for rhabdoid tumour predisposition syndrome, what does it mean?
Go back to: Rhabdoid tumours, a new diagnosis (links to other resources)
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