What is Desmoplastic Small Round Cell Tumors ?
Desmoplastic small round cell tumors (DSRCT) are extremely rare. They predominantly affect young white males between the ages of 10 and 30. Since DSRCT was first identified in 1989, there have been approximately 200 reported cases. While it can develop anywhere in the body, it almost always occurs in the abdomen and is very rare elsewhere.
Some scientists theorize that desmoplastic small round cell tumors result from chromosomes breaking and rejoining incorrectly within cells. In DSRCT, a gene called EWS wrongly joins with a region called WT1. Doctors will look for this change in chromosomes to confirm cancer is DSRCT. Researchers are still investigating the reasons behind this occurrence and whether it directly causes the tumor.
DSRCT is frequently misdiagnosed. Adult patients should always be referred to a sarcoma specialist. This is an aggressive, rare, fast spreading tumor and both pediatric and adult patients should be treated at a sarcoma center
Signs and Symptoms of Desmoplastic Small Round Cell Tumor
Desmoplastic small round cell tumors (DSRCT) can present with a variety of symptoms, which largely depend on the size and location of the tumor. Here are some common signs and symptoms you might experience before being diagnosed:
- Lump or Swelling in the Abdomen:
- DSRCTs almost always present as a lump or swelling in the abdomen.
- This lump can grow rapidly and is often painful.
- Abdominal Pain and Swelling:
- You might experience persistent pain and swelling in your abdomen.
- Unexplained Weight Gain:
- Sudden, unexplained weight gain can be a symptom of DSRCT.
- Nausea:
- Feeling nauseous without any apparent reason can be a sign.
- Difficulty Urinating or Constipation:
- The tumor’s location can sometimes cause issues with urination or bowel movements.
If you notice any of these symptoms, it’s important to visit your GP for a thorough evaluation. Early detection and diagnosis are crucial for effective treatment.
Diagnosis of Desmoplastic Small Round Cell Tumor
Diagnosing desmoplastic small round cell tumor (DSRCT) involves a series of tests conducted by a specialist doctor. These tests include:
- Physical Examination:The doctor will examine and feel any lumps to assess their size and characteristics.
- Imaging Scans:CT (Computed Tomography) or MRI (Magnetic Resonance Imaging) scans take detailed images of the inside of the body to locate and evaluate the tumor.
- Biopsy: To determine if a tumor is a desmoplastic small round cell tumor (DSRCT), your doctor will perform a biopsy. This involves using a needle to take a small sample from the tumor. A pathologist will then examine the cells under a microscope. DSRCT cells typically appear round under magnification. The pathologist may also test for a specific protein called EWS-WT1, which is commonly associated with this type of tumor.
These diagnostic steps are crucial for accurately identifying DSRCT and determining the best course of treatment.
Treatment for Desmoplastic Small Round Cell Tumor
Surgery: The primary treatment for desmoplastic small round cell tumor (DSRCT) is surgery. The surgeon aims to remove the tumor along with a margin of normal tissue to ensure complete cancer removal.
Radiotherapy: Radiotherapy uses high-energy radiation to destroy cancer cells and doctors can administer it either before or after surgery.
- Before Surgery: Radiotherapy aims to shrink the tumor, making it easier to remove.
- After Surgery: Radiotherapy targets any remaining cancer cells that the surgery might not have removed.
Chemotherapy: Chemotherapy employs anti-cancer drugs to destroy cancer cells. It is used in various scenarios:
- When surgery is not an option.
- If there is a high risk of cancer recurrence.
- In cases where the cancer has spread (metastasized).
- Before surgery to shrink the tumor, facilitating easier removal.
Check this link to learn more what is chemotherapy.
Hyperthermic Intraperitoneal Chemotherapy (HIPEC): HIPEC involves bathing the abdominal cavity with heated chemotherapy drugs. This procedure typically lasts approximately two hours and surgeons often perform it in conjunction with surgery. HIPEC targets and eliminates tumor cells within the abdomen while minimizing systemic exposure to chemotherapy drugs, thereby reducing potential side effects throughout the rest of the body.
Targeted and Experimental Therapies: Researchers are exploring targeted therapies and immunotherapies for DSRCT:
- Targeted Therapy: This treatment inhibits cancer cell growth and spread by targeting specific characteristics within the cells.
- Immunotherapy: This approach enhances the immune system’s ability to kill cancer cells.
These therapies have shown promising results in clinical trials for treating DSRCT, but we need further research and trials before fully approving these treatments.
After Treatment
After completing treatment, you will have regular follow-up appointments for several years. Your sarcoma clinical nurse specialist will provide you with a follow-up schedule. These follow-ups will typically include:
- Symptom Discussion: An opportunity to discuss any new or ongoing symptoms.
- Physical Examination: Checking for signs of cancer recurrence, which may involve scans like CT or MRI.
- Chest X-ray: To ensure there are no secondary cancers in the lungs.
Living with Desmoplastic Small Round Cell Tumor
After initial treatment, desmoplastic small round cell tumor can reappear in the same location, known as “local recurrence.” If the cancer returns, it’s crucial to seek treatment promptly. Your treatment plan might include additional surgery or radiotherapy based on your needs. Regular self-examination is important, and your doctor or sarcoma nurse can guide you on what to look for. If you’re worried about a recurrence, contact your doctor or nurse. They may adjust your follow-up appointment to address your concerns sooner.
What if the Cancer Spreads to Another Part of My Body?
Desmoplastic small round cell tumor can metastasize, meaning the cancer spreads to other parts of the body, known as “secondary cancer.” Some people receive a sarcoma diagnosis only after it has already spread. Secondary cancers often appear in the lungs, which is why chest x-rays are part of follow-up appointments.
Secondary tumors can also occur in the liver and bones. If you have advanced cancer, treatment options may include surgery, radiotherapy, or other therapies, evaluated on a case-by-case basis by your medical team.
Resources:
cancer.gov
sarcoma.org.uk
Image: Freepik.com
