What is a EWSR1 SMAD3 Rearranged Fibroblastic Tumour?
EWSR1 SMAD3 Rearranged Fibroblastic Tumour is a very rare and recently discovered type of soft tissue tumour. It develops from fibroblasts which are normal cells in the body that help form connective tissue such as skin, tendons, and supporting structures. In this condition a genetic change happens where two genes, called EWSR1 and SMAD3, join together abnormally. This change disturbs normal cell growth and leads to tumour formation.
This tumour is generally considered low-grade, which means it grows slowly and is less aggressive compared to many other cancers. It usually stays localised and does not spread to distant parts of the body.
Incidence
This tumour is extremely rare, and only a small number of cases have been reported worldwide. It can occur in both children and adults, but it is more commonly seen in young to middle-aged individuals.
Symptoms
Most patients notice a small lump under the skin. This lump is usually painless and grows slowly over time. It is most commonly found in the hands, feet or other parts of the limbs. The skin over the lump usually looks normal. Because it grows slowly and does not cause pain, many people ignore it in the early stages.
Diagnosis
First of all, imaging tests such as ultrasound or MRI are performed to evaluate the lump. However, the final diagnosis requires a biopsy where a small sample of the tissue is taken and examined under a microscope. Special genetic testing is very important as it confirms the presence of the EWSR1-SMAD3 gene rearrangement, which is the key feature of this tumour.
Treatment
The main treatment is surgical removal of the tumour. Since it is usually low-grade, surgery alone is often enough. There is usually no need for chemotherapy or radiation therapy unless the tumour behaves unusually.
Prognosis
The prognosis is very good. Most patients recover completely after surgery. The risk of spread is extremely low. However, if the tumour is not fully removed it may come back in the same area, so regular follow-up is important.
You can help us with your donation:
Without a Ribbon is a charity that works hard to aid those who suffer from rare cancers. You can help our cause in a variety of ways: