Summary about Disease
Rhabdoid tumors are rare and aggressive cancers that most often occur in young children, although they can occur in adults. These tumors can develop in various parts of the body, but they are most commonly found in the kidneys, brain, and soft tissues. The defining characteristic of a rhabdoid tumor is the presence of "rhabdoid" cells, which are large, atypical cells with eccentric nuclei and prominent nucleoli. These tumors are known for their rapid growth and tendency to spread, making them challenging to treat.
Symptoms
The symptoms of rhabdoid tumors vary depending on the location of the tumor. Common symptoms can include:
Kidney: Abdominal mass, pain, blood in urine (hematuria), fever, loss of appetite.
Brain: Headaches, vomiting, lethargy, seizures, developmental delays, changes in personality.
Soft tissues: Palpable lump or swelling, pain, limited range of motion.
Other symptoms: Fatigue, weight loss, fever, general malaise.
Causes
Rhabdoid tumors are primarily caused by inactivating mutations in the SMARCB1 (INI1) gene. In some rare cases, mutations in the SMARCA4 (BRG1) gene can also cause rhabdoid tumors. These genes are tumor suppressor genes that play a role in regulating cell growth and development. When these genes are mutated, they lose their function, leading to uncontrolled cell proliferation and tumor formation. In some instances, the mutation is inherited, but in most cases, it occurs spontaneously.
Medicine Used
Treatment for rhabdoid tumors typically involves a combination of therapies:
Surgery: To remove as much of the tumor as possible.
Chemotherapy: To kill cancer cells throughout the body. Common chemotherapy drugs used include cyclophosphamide, cisplatin, etoposide, ifosfamide, vincristine, and doxorubicin.
Radiation therapy: To target and destroy cancer cells in a specific area.
High-dose chemotherapy with stem cell transplant: In some cases, high-dose chemotherapy followed by a stem cell transplant may be considered.
Targeted therapy: While not standard of care, research is ongoing to develop therapies that specifically target the molecular pathways involved in rhabdoid tumor development.
Investigational therapies: Clinical trials may offer access to new and promising treatments.
Is Communicable
Rhabdoid tumors are not communicable. They are caused by genetic mutations and cannot be spread from person to person.
Precautions
Since rhabdoid tumors are not communicable, general precautions focus on supporting the patient and their family during treatment. These include:
Maintaining a sterile environment to prevent infection during chemotherapy and radiation.
Following doctor's instructions regarding medications and appointments.
Nutritional support to maintain strength and energy during treatment.
Emotional support for the patient and family to cope with the challenges of cancer treatment.
How long does an outbreak last?
Rhabdoid tumors are not an infectious disease and do not have "outbreaks." The duration of the disease depends on the stage at diagnosis, location of tumor, and response to treatment. The course of the disease is typically rapid and aggressive.
How is it diagnosed?
Diagnosis of rhabdoid tumors typically involves the following:
Physical examination: To assess for any palpable masses or other abnormalities.
Imaging studies: Such as MRI, CT scans, and X-rays, to visualize the tumor and determine its size and location.
Biopsy: A sample of the tumor is taken and examined under a microscope to confirm the diagnosis and identify the characteristic rhabdoid cells.
Immunohistochemistry: Specific staining of the tumor tissue to confirm loss of INI1 (SMARCB1) protein expression, the hallmark of these tumors.
Genetic testing: To look for mutations in the SMARCB1 or SMARCA4 gene.
Timeline of Symptoms
The timeline of symptoms can vary greatly depending on the location and aggressiveness of the tumor. Generally, the symptoms develop relatively quickly once the tumor begins to grow. The progression can be rapid.
Early stages: Subtle symptoms may be present initially, such as fatigue, mild pain, or a small, painless lump.
Progression: As the tumor grows, the symptoms become more pronounced and specific to the affected organ. This can happen within weeks or months.
Important Considerations
Early diagnosis is crucial for improving outcomes.
Treatment is complex and requires a multidisciplinary approach involving surgeons, oncologists, radiation oncologists, and other specialists.
Prognosis is generally poor, especially for metastatic disease.
Clinical trials offer opportunities to access new and promising treatments.
Genetic counseling may be recommended for families, especially if there is a known family history of rhabdoid tumors.
Long-term follow-up care is essential to monitor for recurrence and manage any late effects of treatment.