Desmoplastic Small Round Cell Tumors - Early Signs, Risk Factors, Diagnosis, and Treatment Explained

Overview: What is Desmoplastic Small Round Cell Tumor?

Desmoplastic Small Round Cell Tumor (DSRCT) is a very rare and aggressive cancer that usually develops inside the abdomen or pelvis. It belongs to a group of cancers called soft tissue sarcomas, which start in the body’s supporting tissues like fat, muscles, and blood vessels.

It was first identified in the late 1980s and is most often seen in young males (teens and twenties), though it can also affect females and people of other ages. Because it tends to grow quickly and spread early, many patients are diagnosed at an advanced stage.

Although rare, early detection and specialized treatment can improve outcomes. Today, advances in surgery, chemotherapy, radiation, and newer targeted treatments offer patients more options than before.

What Are the Types of Desmoplastic Small Round Cell Tumor?

Unlike some other cancers, desmoplastic small round cell tumor does not have many distinct subtypes. However, doctors may describe tumors based on their location and spread:

• Intra-abdominal DSRCT: The most common type, usually starting in the lining of the abdomen (peritoneum).
• Extra-abdominal DSRCT: Rare, found in areas such as the chest, head, or neck.
• Metastatic DSRCT: When the cancer has spread beyond the original site, commonly to the liver, lungs, or lymph nodes.

What Are the Causes of Desmoplastic Small Round Cell Tumor?

The exact cause of desmoplastic small round cell tumor is not fully understood. Unlike some cancers, it is not strongly linked to lifestyle or environmental factors. Instead, it is caused by a genetic change inside the tumor cells.

Most desmoplastic small round cell tumor tumors have a specific chromosomal translocation of the EWSR1 gene on chromosome 22 and the WT1 gene on chromosome 11. This abnormality leads to uncontrolled cell growth and the development of cancerous tumors. This mutation happens after birth and is not inherited, meaning it is not passed from parents to children.

What Are the Risk Factors of Desmoplastic Small Round Cell Tumor?

Because desmoplastic small round cell tumor is rare, doctors are still learning about possible risk factors. Current evidence suggests:

• Age: Most common in adolescents and young adults (typically ages 10–30).
• Gender: Males are affected more often than females.
• Genetics: While desmoplastic small round cell tumor itself is not inherited, other family cancer syndromes may slightly increase the risk of soft tissue sarcomas in general.
• No lifestyle link: Unlike lung or liver cancers, smoking, diet, or alcohol do not play a known role.

What Are the Symptoms of Desmoplastic Small Round Cell Tumor?

In the early stages, desmoplastic small round cell tumor may not cause noticeable problems. As tumors grow, symptoms often appear due to pressure on organs in the abdomen.

Early symptoms may be vague. As the tumor grows, it can press on organs and cause:

• Abdominal pain or discomfort
• A firm lump or swelling in the belly
• Unexplained weight loss
• Loss of appetite
• Feeling full quickly

Advanced symptoms may include:

• Bowel obstruction (constipation, bloating, or vomiting)
• Difficulty breathing (if tumors spread to the chest)
• Fatigue and weakness
• Fluid build-up in the abdomen (ascites)

Because these symptoms can be mistaken for more common conditions, desmoplastic small round cell tumor is often diagnosed late.

How is Desmoplastic Small Round Cell Tumor Diagnosed?

Diagnosing desmoplastic small round cell tumor requires several steps, since symptoms overlap with other abdominal conditions.

Tests and procedures include:

• Physical examination: Checking for lumps or swelling in the abdomen.
• Imaging tests: CT scan or MRI shows tumor size and spread and a detailed image of the soft tissues, PET scan detects active cancer areas throughout the body.
• Biopsy: A small piece of the tumor is removed and studied under a microscope. Pathologists confirm desmoplastic small round cell tumor by identifying the EWSR1-WT1 fusion gene using special tests like FISH (fluorescence in situ hybridization).

Staging of Desmoplastic Small Round Cell Tumor

Staging describes how far the cancer has spread:

• Stage I: Tumor is small and confined to its original site.
• Stage II: Larger tumor, still mostly localized.
• Stage III: Tumor has invaded nearby organs or lymph nodes.
• Stage IV: Cancer has spread to distant parts of the body (lungs, liver, etc.).

Grading refers to how aggressive the cancer cells look under a microscope. Desmoplastic small round cell tumor is considered high-grade, meaning it tends to grow and spread quickly. Staging and grading together help doctors plan treatment and predict prognosis.

What Are the Treatment Options for Desmoplastic Small Round Cell Tumor?

Because desmoplastic small round cell tumor is aggressive, treatment usually involves a combination of therapies.

• Surgery: The main goal is to remove as much of the tumor as possible. Complete removal can be difficult because tumors often spread widely in the abdomen. In some cases, HIPEC (Hyperthermic Intraperitoneal Chemotherapy) may be used during surgery. This involves filling the abdominal cavity with heated chemotherapy to kill microscopic cancer cells.
• Chemotherapy: This is the most common systemic treatment. Often given in cycles with drugs that kill cancer cells. It helps shrink tumors before surgery and destroy remaining cancer post-surgery.
• Targeted Therapy: Research is ongoing into drugs that specifically block the genetic changes in desmoplastic small round cell tumor. Agents targeting IGF-1R (Insulin-like Growth Factor Receptor) or angiogenesis pathways are under study.
• Radiation Therapy: Radiation can be used after surgery to reduce the risk of recurrence.

Proton Therapy: When Is It Applicable?

Available at Apollo Proton Cancer Centre, proton therapy uses protons instead of X-rays to deliver radiation more precisely to cancer cells. The advantage is that protons can be controlled to release their energy directly into the tumor with minimal exit dose, sparing surrounding healthy tissue and vital organs.

While proton therapy is not required for all patients with desmoplastic small round cell tumor, it can be especially beneficial in select cases where traditional radiation may pose higher risks.

What is the Prognosis of Desmoplastic Small Round Cell Tumor?

Unfortunately, desmoplastic small round cell tumor has a challenging prognosis because it is usually diagnosed late. Overall 5-year survival rate is around 15–30%, depending on stage and treatment response.

Better outcomes are seen when:

• Tumors are completely removed by surgery
• Patients respond well to chemotherapy
• Cancer has not spread outside the abdomen

While survival rates can sound discouraging, every patient’s journey is different. Ongoing research and clinical trials are giving new hope with advanced therapies.

Screening and Prevention of Desmoplastic Small Round Cell Tumor

Currently, there are no standard screening tests for desmoplastic small round cell tumor because it is so rare.

Prevention strategies include:

• Awareness of symptoms, especially in adolescents and young adults.
• Genetic counseling for families with a history of sarcomas (even though desmoplastic small round cell tumor itself is not inherited).
• Regular follow-up scans for patients who have been treated, to detect recurrences early.

For International Patients

People from around the world come to Apollo Hospitals for the treatment of rare cancers like desmoplastic small round cell tumor. Our international patient services team will guide you all the way from seeking the first virtual connect all the way to treatment in India and then returning home post treatment.

Services include:

Medical opinions and scheduling

• Pre-arrival medical review of reports and imaging.

Travel and logistics

• Assistance with visa invitation letters, airport transfers, and nearby accommodation options.
• Dedicated international patient coordinators to guide through each step.

Language and cultural support

• Interpreter services in multiple languages.
• Clear, simple explanations at every stage with written care plans.

Financial coordination

• Transparent treatment estimates and packages when possible.
• Support with international payment methods and insurance coordination.

Continuity of care

• Shared records, imaging, and treatment summaries for home doctors.
• Telemedicine follow-ups for convenience after returning home.

Frequently Asked Questions (FAQs)

1. What is the survival rate for desmoplastic small round cell tumors?

The overall 5-year survival rate is about 15–30%, but it varies depending on tumor size, spread, and how well treatment works. Some patients achieve long-term remission, especially with complete surgery plus chemotherapy.

2. What are the common side effects of treatment?

• Chemotherapy: nausea, hair loss, fatigue, infection risk
• Surgery: pain, digestive issues, recovery time
• Radiation: skin irritation, fatigue, long-term risk to nearby organs

Doctors now use supportive medicines and modern techniques to reduce side effects as much as possible.

3. Can desmoplastic small round cell tumor come back after treatment?

Yes, recurrence is common, which is why regular follow-up scans are essential. Early detection of recurrence allows timely treatment.

4. Is there a cure for desmoplastic small round cell tumor?

At present, a guaranteed cure is difficult. However, many patients achieve long periods of remission with aggressive multimodal treatment. Research is ongoing for new therapies that may improve cure rates.

5. How long is the recovery time after treatment?

Recovery depends on the type of treatment. Surgery may require 6–8 weeks of recovery, while chemotherapy cycles can last several months. Patients often need ongoing follow-up for years.

6. What is the cost of desmoplastic small round cell tumor treatment in India?

Costs vary depending on the hospital, stage, and treatment type. In India, treatment is generally more affordable than in Western countries, and Apollo Hospitals provides comprehensive care packages for international patients.

7. Are there clinical trials for desmoplastic small round cell tumor?

Yes, clinical trials are testing new chemotherapy combinations, targeted drugs, and immunotherapies. Patients are encouraged to discuss trial participation with their oncologist.