What is EWSR1:SMAD3 Rearranged Fibroblastic Tumour?
EWSR1::SMAD3 Rearranged Fibroblastic Tumour is a rare and recently recognised soft tissue tumour. It usually develops in the fingers, toes, feet, or hands. It is considered a benign (non-cancerous) tumour, but it can come back after treatment if it is not completely removed.
Causes
The exact cause is unknown. However, the tumour develops because of a genetic change called EWSR1::SMAD3 gene fusion, where parts of two genes join together abnormally. This genetic alteration promotes the growth of fibroblastic cells.
Signs and Symptoms
Most patients develop:
- A small lump or nodule under the skin
- Swelling in the affected area
- Pain or tenderness (in some cases)
- Slow-growing mass, usually on the feet, toes, hands, or fingers
EWSR1::SMAD3 Rearranged Fibroblastic Tumour is generally small, measuring about 1–2 cm.
Diagnosis
Diagnosis is based on a combination of:
1. Physical examination to assess the lump.
2. Microscopic examination (biopsy) showing uniform spindle-shaped fibroblastic cells in a collagenous or myxoid background.
3. Immunohistochemistry (IHC), which typically shows strong positivity for ERG and negativity for markers such as S100, CD34, and SMA.
4. Molecular testing such as:
- Fluorescence In Situ Hybridization (FISH)
- RT-PCR
- Gene sequencing
These tests confirm the presence of the EWSR1::SMAD3 gene fusion.
Treatment
The main treatment is:
Complete surgical removal (wide excision) of the tumour.
Because the tumour can recur locally, patients should have:
- Regular follow-up examinations
- Monitoring for any signs of recurrence
Although local recurrence may occur, spread to other parts of the body (metastasis) has not been reported, and the overall prognosis is excellent.
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