Desmoplastic Small Round Cell Tumours (DSRCT): Comprehensive Health Information

Desmoplastic Small Round Cell Tumours (DSRCT): A Comprehensive Guide

This information is intended to provide a general overview of Desmoplastic Small Round Cell Tumours (DSRCT). It is not a substitute for professional medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider for any health concerns or before making any decisions related to your health.

General Information

Desmoplastic small round cell tumours (DSRCT) are a rare and aggressive type of soft-tissue sarcoma. This condition leads to the formation of multiple tumours, primarily located in the abdomen and pelvic area, though the exact site of origin is often unknown.

The first documented case of DSRCT was recorded in 1989, and approximately 200 cases have been diagnosed globally since then. The disease is most common in Caucasian boys. Although researchers suspect that a genetic problem may be the underlying cause of DSRCT, this link has not yet been definitively proven.

Because DSRCT is often not diagnosed until the cancer is at an advanced stage, the tumours typically grow large and spread (metastasise) through the lymph system or bloodstream to other parts of the body. Common areas for spread include the lymph nodes, lungs, bone, and liver. Other types of cancer, such as rhabdomyosarcoma, may also be found in the abdomen alongside DSRCT.

DSRCT is considered a dangerous form of cancer that frequently shows resistance to treatment and often recurs (comes back) after initial treatment.

In rare cases, DSRCT may be passed down genetically from one generation to the next. Genetic counselling may be appropriate for some families.

Symptoms

Desmoplastic small round cell tumours (DSRCT) typically do not present with any early symptoms. In the majority of cases, the first sign noticed is a hard, rounded mass in the abdomen, which can grow quite large before it is discovered. The child may also experience abdominal pain. Due to the rarity of DSRCT, it is frequently misdiagnosed by general practitioners and paediatricians.

Common symptoms of DSRCT include:

  • Swelling (distention) of the abdomen
  • Back pain
  • Gastrointestinal blockage
  • Lack of appetite and resulting weight loss
  • Fatigue
  • Fluid accumulation in the abdomen (ascites)
  • Anaemia
  • Thyroid or hormone problems

It is important to remember that DSRCT is rare. If a child experiences any of these symptoms, they are most likely caused by a less serious condition. Nevertheless, it is advisable to consult a doctor, as these signs may indicate other health concerns.

Diagnosis

As part of one of the nation's largest cancer centres, the SSCHRC Children's Cancer Hospital possesses more experience with desmoplastic small round cell tumours (DSRCT) than most other hospitals. SSCHRC utilises the latest, most accurate diagnostic technology, and its physicians are highly specialised.

Given that desmoplastic small round cell tumours are rare, few paediatricians or general practitioners are familiar with the disease. Even many oncologists (cancer doctors) have not treated a case of DSRCT.

An early and precise diagnosis significantly improves the chances for successful treatment. However, DSRCT is often misdiagnosed as other types of abdominal tumours until it has already spread to other areas of the body.

Diagnostic Tests

If your child presents with desmoplastic small round cell tumour symptoms, the doctor will conduct a physical examination and ask questions about your child's health and your family's medical history.

One or more of the following diagnostic tests may be used to determine if your child has DSRCT and if it has spread. These tests may also be used to monitor if treatment is working.

Imaging tests, which may include:

  • CT or CAT (computed axial tomography) scans
  • MRI (magnetic resonance imaging) scans
  • PET (positron emission tomography) scans
  • Ultrasound

Biopsy

A biopsy is almost always necessary to confirm a DSRCT diagnosis. This procedure involves removing a small sample of cells from the tumour or fluid in the abdomen for examination under a microscope. One of these methods is typically used:

  • Fine needle aspiration (FNA): A thin needle is inserted into the tumour to remove a small amount of tissue or fluid.
  • Core biopsy: Similar to FNA, but a thicker needle is used to extract small, cylinder-shaped tissue samples (cores).
  • Surgical biopsy: Tissue is removed during an operation.

Getting a Second Opinion at Children's Cancer Hospital

Desmoplastic small round cell tumours can be challenging to diagnose. The pathologists at SSCHRC Children's Cancer Hospital are highly specialised in diagnosing complex cancers, including DSRCT. They welcome the opportunity to provide second opinions for DSRCT.

Treatment

SSCHRC's Children's Cancer Hospital is among the few cancer centres in the nation with extensive experience treating desmoplastic small round cell tumours, a rare and aggressive form of paediatric cancer.

Using the latest research and supported by modern technology and techniques, Children's Cancer Hospital physicians create a customised, comprehensive course of treatment to address the child's specific issues. The objective is to provide the best chance for effective treatment while minimising the impact on the child's body.

Surgical Expertise

Surgery is usually the first line of treatment for DSRCT. As with all operations, DSRCT surgery is most successful when performed by a specialist with considerable experience in the specific procedure. SSCHRC Children's Cancer Hospital surgeons are highly skilled and renowned globally.

HIPEC, or hyperthermic peritoneal perfusion with chemotherapy, is an innovative surgical procedure pioneered at SSCHRC Children's Cancer Hospital and has proven to be safe and effective for many children with DSRCT. SSCHRC is one of the few hospitals in the world offering this therapy.

Adapted from a surgical procedure used for adult abdominal tumours, HIPEC involves debulking—surgically removing as much of the tumour(s) as possible. Following this, heated chemotherapy is circulated within the abdomen.

Discovering Innovative Approaches

The specialists at SSCHRC Children's Cancer Hospital are actively researching new ways to treat DSRCT, including targeted therapies designed to help the body fight cancer at a cellular level. Clinical trials are available for novel agents to treat this rare disease, many of which are only offered at SSCHRC Children's Cancer Hospital.

Desmoplastic Small Round Cell Tumour Treatments

After carefully evaluating your child's case, the expert team will discuss a recommended course of treatment for DSRCT. Since DSRCT is complex and rarely encountered, there is no single standard treatment protocol.

Surgery

Surgery is almost always a component of DSRCT treatment. Procedures may include:

  • Debulking surgery: The surgical removal of as much of the tumour or tumours as possible. Any remaining tumour cells are likely to spread to other parts of the body. This is a complex surgery that may involve multiple organs.
  • Hyperthermic Intraperitoneal Chemotherapy (HIPEC): Pioneered at Children's Cancer Hospital, this innovative surgery may improve outcomes for some children. The procedure begins with a 10- to 12-hour debulking procedure. Following this, a heated chemotherapy solution is circulated in the abdominal cavity.

Chemotherapy

Some DSRCT patients respond to chemotherapy, but most will relapse. Long-term, low-dose chemotherapy may be beneficial for patients who are in remission or who have a tumour that cannot be surgically removed.

Radiation therapy

Radiation therapy (or radiotherapy) uses high-energy beams to destroy cancer cells. New radiation therapy techniques and the remarkable skill of SSCHRC Children's Cancer Hospital doctors allow them to target tumours more precisely, delivering the maximum amount of radiation with the least damage to healthy cells.

Stem cell transplant with Chemotherapy

Targeted Therapies

SSCHRC Children's Cancer Hospital is advancing the future of DSRCT treatment by developing innovative targeted therapies. These agents are specifically designed to treat each cancer's unique genetic/molecular profile to help the child's body fight the disease. The doctors who treat DSRCT at SSCHRC are dedicated researchers who have pioneered and actively lead national and international clinical trials involving novel targeted agents.

Other Treatment Options

  • Radiofrequency ablation or cryoablation
  • Gammaknife® radiosurgery
  • Embolisation: In this minimally invasive surgery, doctors inject a material to block blood flow to a specific area. By depriving the tumour of blood, its growth can be slowed or stopped.
  • Chemoembolisation: This procedure is similar to standard embolisation, but chemotherapy agents are injected along with the material to block blood flow.
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