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Disease Information: Desmoplastic Small Round Cell Tumour
Definition:
This is a highly aggressive tumour that occurs as multiple masses in the abdomen involving the regional lymph nodes and the lining of the abdomen and pelvis.
Symptoms:
The most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction.
Incidence:
Desmoplastic small round cell tumour is extremely rare. It affects predominately males in their second decade of life.
Treatment:
Because of the diffuse involvement of the abdomen complete resection of the tumour is rarely possible. Effective treatment relys upon chemotherapy and radiation treatment.
FOR MORE INFORMATION VISIT:
http://en.wikipedia.org/wiki/Desmoplastic_small_round_cell_tumor
Consultants Comments
Dr. Sheila Lane MBBS MRCP PhD
Consultant Paediatric Oncologist Children's Hospital Oxford says:
Rob was one of the patients being treated by the Children's Oncology team in Oxford. He had a Desmoplastic small round cell tumour (DSRCT). This is a rare tumour and was first discovered less than 20 years ago. The tumour mainly affects young teenage males and it often presents as a large abdominal mass which is widely spread at the time of diagnosis. Rare tumors such as DSRCT are elusive both in their nature and response to treatment. Research is vital to help improve treatment options and survival.
Rob's wish in setting up this charity is to help other teenagers with rare tumours. He hopes to raise sufficent money to fund a research project in the UK. This is a challenging goal but one which the Oxford Children's Oncology Team fuly support.
Dr. Chris Mitchell
Consultant at the John Radcliffe Childrens Hospital says:
The Desmoplastic Small Round Cell Tumor (DSRCT) was first described as a specific type of tumour in 1991. It is usually seen in children or young adults (average age at diagnosis is 22 years) and is 5 times more common in males than in females. It usually presents because of discomfort or pain, weight loss, and abdominal swelling. There is usually a large mass within the abdomen, often arising out of the pelvis. In addition there are often numerous small secondary tumours throughout the abdominal cavity.
These tumours have also been reported in a number of other sites outside the abdomen. It is a very aggressive tumour and has often spread widely by the time of diagnosis.
However, it is a very rare tumour and so far there have probably been fewer than 100 cases described in the medical literature. However, for a cancer biologist it is an extremely interesting tumour. Over the past 20 years there have been a large number of genes discovered that have specific roles to play In the development of various types of tumours, both in adults and in children. Two such genes are the EWS gene, which is associated with a bone tumour called Ewing’s sarcoma (after Dr James Ewing who first described it), and the WT1 gene, which is associated with Wilms’ tumour, a form of cancer affecting the kidney in childhood (and which is named for Dr Max Wilms).
I am sure you know, everything about us is determined by the genes that we have inherited from our mothers and fathers. Our genes are packaged on chromosomes, of which humans have 23 pairs, half of each pair coming from the mother and the other half from the father. In DSRCT, the chromosomes have become rearranged so that instead of having a pair of chromosomes 11 and pair of chromosome 22, there has been an incorrect repair of some random chromosome damage, so that part of chromosome 11 is "stuck onto" part of chromosome 22. As a result of this incorrect repair, the EWS gene which normally lives on chromosome 22 finds itself next to the WT1 gene, which normally lives on chromosome 11 – this process is called a chromosomal translocation, and is described as (t11;22)(p13:q12), the first brackets describing the chromosomes and the second brackets describing the sites on each of the involved chromosomes. These two genes then function together as a "fusion gene" to produce a new protein. Exactly how the appearance of this protein causes the development of the DSRCT is now the focus of intense research, as it could conceivably lead to new and more effective treatments.
At the present time, the treatment of DSRCT relies heavily on chemotherapy or drug treatment. As the tumour has often spread widely at the time of diagnosis, treatments such as surgery or radiotherapy are much less likely to be useful. However, if it was possible to block the formation of the new protein, or to "turn off" the effects that the new protein has (while leaving the effects of the normal proteins intact), it might be possible to make tumours shrink or even disappear entirely. There is still a very long way to go, to get from what we know now to having a useful drug – it will not happen in the nest few months, or even in the next few years. However, it is a possibility within the next 5 to 10 years.
Unfortunately DSCRT is such a rare tumour that dug company developments are unlikely to focus on it. Hence most of this research is going to happen in the research departments of universities and they will require large amounts of funding. That is why Robert Holland’s appeal is so important. It will raise the public’s knowledge about this rare but dangerous condition and also will help fund the research that might lead, ultimately to much more effective treatments than we have now.
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