Rhabdoid Cancer
Disease Details
Family Health Simplified
- Description
- Rhabdoid cancer is a rare and aggressive malignancy most commonly affecting infants and young children, characterized by the presence of rhabdoid tumor cells.
- Type
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Rhabdoid cancer is a rare and aggressive type of tumor that primarily affects children. It most commonly arises in the kidneys (referred to as malignant rhabdoid tumor of the kidney) or the brain (where it is known as atypical teratoid/rhabdoid tumor, or AT/RT). The cancer is frequently associated with mutations in the SMARCB1 gene (also known as INI1 or hSNF5), and less commonly with mutations in the SMARCA4 gene.
The genetic transmission of rhabdoid cancer is typically sporadic, meaning that it usually results from new mutations that occur during a person's lifetime and are not inherited from the parents. However, in rare cases, these mutations can be inherited in an autosomal dominant pattern, which means only one copy of the altered gene, inherited from one parent, is sufficient to increase the risk of developing the cancer. - Signs And Symptoms
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Rhabdoid cancer, particularly malignant rhabdoid tumors, can present with the following signs and symptoms:
- Abdominal swelling or mass
- Pain in the abdomen
- Nausea and vomiting
- Loss of appetite
- Weight loss
- Blood in the urine (when affecting the kidneys)
- Neurological symptoms like headaches or seizures (when affecting the brain)
Please note that symptoms can vary depending on the tumor's location. Early detection and consultation with a healthcare provider are crucial for proper diagnosis and treatment. - Prognosis
- Rhabdoid cancer, often referred to as malignant rhabdoid tumor, generally has a poor prognosis. It is an aggressive tumor typically diagnosed in infancy or early childhood. Survival rates are low, with less than 30% of patients surviving beyond five years, even with intensive treatment that includes surgery, chemotherapy, and radiation. Early detection and advances in treatment may improve outcomes, but the overall prognosis remains challenging.
- Onset
- Rhabdoid cancer usually affects young children, often occurring before the age of three. It can develop in various parts of the body, including the kidneys and central nervous system. The onset is typically rapid and aggressive.
- Prevalence
- The prevalence of rhabdoid cancer is quite low, making it a rare disease. Specific prevalence data are not well-documented, but it is known to primarily affect young children, most commonly under the age of 2. It is characterized by aggressive and fast-growing tumors, often originating in the kidneys (rhabdoid tumors of the kidney) or the central nervous system (atypical teratoid/rhabdoid tumors).
- Epidemiology
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Rhabdoid cancer, also known as malignant rhabdoid tumor (MRT), is a rare and highly aggressive form of cancer that typically affects young children, although it can occur in adults. It most commonly originates in the kidneys (known as rhabdoid tumor of the kidney, or RTK) but can also arise in other soft tissues, including the brain (where it is called atypical teratoid/rhabdoid tumor, or ATRT).
The incidence of rhabdoid tumors is low, with estimates suggesting it occurs in roughly 1 in 1 million children. The peak age of diagnosis is usually around 2-3 years old, and it is slightly more common in boys than girls. Because of its aggressive nature, the prognosis for rhabdoid cancer is generally poor, with a high rate of metastasis and resistance to conventional therapies.
Given its rarity, most epidemiological data comes from limited case series and registry data rather than large-scale studies. Efforts to understand and treat this disease are ongoing, often through collaborative research networks and rare tumor registries. - Intractability
- Rhabdoid cancer, also known as malignant rhabdoid tumor (MRT), is often considered intractable due to its aggressive nature and poor prognosis. It is a rare and highly malignant tumor that typically affects children. Despite aggressive treatment, which may include surgery, chemotherapy, and radiation, outcomes are generally poor, and the disease is difficult to control.
- Disease Severity
- Rhabdoid cancer is a highly aggressive and malignant tumor often found in children. It is known for its poor prognosis and high mortality rate, making it a very severe disease.
- Healthcare Professionals
- Disease Ontology ID - DOID:3672
- Pathophysiology
- The pathophysiology of rhabdoid cancer, also known as malignant rhabdoid tumor, involves the inactivation of the SMARCB1/INI1 gene, a key component of the SWI/SNF chromatin remodeling complex. This genetic alteration leads to disruptions in chromatin structure and subsequent dysregulation of gene expression, which promotes uncontrolled cell proliferation and tumor formation. Rhabdoid tumors are highly aggressive and most commonly affect young children, often occurring in the kidneys (renal rhabdoid tumors) or the central nervous system (atypical teratoid/rhabdoid tumors).
- Carrier Status
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Rhabdoid cancer, particularly malignant rhabdoid tumor (MRT), does not have a well-defined "carrier status" like some genetic conditions. MRT is primarily associated with mutations in the SMARCB1 gene, which can occur sporadically or be inherited in a rare syndrome called Rhabdoid Tumor Predisposition Syndrome (RTPS). People who inherit a mutation in the SMARCB1 gene have a higher risk of developing rhabdoid tumors and other cancers.
Carrier status typically refers to individuals who carry one copy of a mutated gene that can cause disease when two copies are present. In RTPS, an individual with one mutated copy of the SMARCB1 gene has a higher risk of developing cancer, akin to a dominant inheritance pattern, rather than being an unaffected carrier like in recessive diseases. - Mechanism
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Rhabdoid cancer, also known as malignant rhabdoid tumor (MRT), is an aggressive form of cancer that primarily affects young children. It most commonly occurs in the kidneys (referred to as rhabdoid tumor of the kidney) but can also occur in other soft tissues and the brain (termed atypical teratoid rhabdoid tumor, or AT/RT).
**Mechanism:**
The exact mechanism of rhabdoid cancer development involves genetic mutations that lead to uncontrolled cell growth and tumor formation. One of the primary genetic alterations associated with rhabdoid cancer is the inactivation or mutation of the SMARCB1 gene, also known as INI1, BAF47, or hSNF5. This gene is crucial for regulating chromatin remodeling, which in turn controls gene expression and cell cycle regulation.
**Molecular Mechanisms:**
1. **SMARCB1 Mutation:** The loss or inactivation of the SMARCB1 gene is the hallmark of rhabdoid tumors. This gene encodes a core subunit of the SWI/SNF chromatin remodeling complex, which is essential for maintaining normal chromatin structure and regulating gene expression.
2. **Epigenetic Dysregulation:** The loss of SMARCB1 function leads to widespread changes in chromatin structure and epigenetic marks. This dysregulation results in aberrant activation and silencing of a variety of genes that control cell proliferation, differentiation, and apoptosis.
3. **Pathway Activation:** The inactivation of SMARCB1 can lead to the activation of several oncogenic pathways, including the cyclin D1/CDK4 pathway, which promotes cell cycle progression, and the Hedgehog signaling pathway, which has roles in cell differentiation and proliferation.
4. **Transcriptional Changes:** The disruption of the SWI/SNF complex due to SMARCB1 loss influences the transcription of many genes involved in cell cycle control and tumor suppression, contributing to the malignant phenotype of rhabdoid cancer cells.
Overall, the molecular mechanisms underlying rhabdoid cancer involve genetic mutations, particularly in the SMARCB1 gene, leading to downstream effects on chromatin remodeling and gene expression, resulting in uncontrolled cell proliferation and tumor development. - Treatment
- Rhabdoid cancer, a rare and aggressive tumor typically occurring in the kidneys (Rhabdoid Tumor of the Kidney) or the brain (Atypical Teratoid Rhabdoid Tumor), often requires a multimodal approach for treatment. This generally includes surgical resection, chemotherapy, and radiation therapy. Additionally, emerging treatments such as targeted therapies and immunotherapies are being researched and may be options in specific cases. Treatment is highly tailored to the individual patient based on factors like tumor location, size, and the patient's overall health.
- Compassionate Use Treatment
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Rhabdoid cancer, an aggressive childhood malignancy, often requires innovative approaches due to its poor prognosis. Here are some options in the realm of compassionate use, off-label, or experimental treatments:
1. **Compassionate Use Treatments**:
- These programs allow patients to access investigational drugs outside of clinical trials. Drugs like tazemetostat, an EZH2 inhibitor, have been explored under compassionate use for treating rhabdoid tumors.
2. **Off-label Treatments**:
- **Cabozantinib**: Originally approved for other cancers like medullary thyroid cancer, some studies suggest that it may have activity against rhabdoid tumors.
- **Pazopanib**: Used for soft tissue sarcomas, has shown potential off-label for treating this aggressive cancer.
3. **Experimental Treatments**:
- **Immunotherapy**: Clinical trials are investigating the use of immune checkpoint inhibitors such as nivolumab and pembrolizumab.
- **Targeted Therapy**: Research focuses on targeting the SMARCB1 (INI1) gene mutations common in rhabdoid cancers using small-molecule inhibitors.
- **CAR-T Cell Therapy**: Experimental use of genetically modified T-cells is being explored.
Patients considering these options should consult with their medical team to understand potential risks and benefits thoroughly. - Lifestyle Recommendations
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Rhabdoid cancer is a rare and aggressive form of cancer that typically affects infants and young children. It most commonly originates in the kidneys (as malignant rhabdoid tumor) or the central nervous system (as atypical teratoid/rhabdoid tumor). Due to its aggressive nature, lifestyle modifications alone are unlikely to significantly impact the progression or treatment outcomes. However, general recommendations for supporting overall health and well-being during treatment may include:
1. **Nutritional Support:**
- Ensure a balanced diet rich in essential nutrients to support the immune system and overall health.
- Small, frequent meals can help maintain energy levels and manage side effects such as nausea or loss of appetite.
2. **Physical Activity:**
- Gentle, age-appropriate physical activity can help maintain strength and reduce fatigue, as tolerated.
3. **Regular Medical Follow-ups:**
- Keep all scheduled medical appointments for monitoring and managing the disease.
4. **Hydration:**
- Maintain adequate fluid intake to support overall health and flush out toxins, especially important during chemotherapy.
5. **Emotional Support:**
- Engage with support groups or mental health professionals to cope with the emotional and psychological impact of the disease.
6. **Avoid Infections:**
- Practice good hygiene and avoid exposure to infectious agents, as the immune system may be compromised during treatment.
Each case is unique, and the specific lifestyle recommendations should be tailored to the individual by their healthcare team. - Medication
- For rhabdoid cancer, there is no specific medication universally approved and accepted as standard treatment due to its rarity and aggressive nature. The treatment typically involves a combination of surgery, radiation therapy, and intensive chemotherapy. Clinical trials and research are ongoing to find more effective treatments. Consultation with a specialized oncologist for individualized therapy plans is critical.
- Repurposable Drugs
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Rhabdoid cancer is a rare and aggressive malignancy often found in young children, particularly affecting the kidneys and central nervous system. While specific repurposable drugs for rhabdoid cancer are still under investigation, some existing drugs showing promise include:
1. **Vorinostat (SAHA)**: A histone deacetylase inhibitor that has shown potential in clinical trials for various cancers.
2. **Alisertib**: An Aurora kinase A inhibitor being evaluated for its effects on rhabdoid tumors.
3. **Pazopanib**: A tyrosine kinase inhibitor with activity against various sarcomas, including rhabdoid tumors in some studies.
4. **Palbociclib**: A CDK4/6 inhibitor, which is being investigated in combination with other agents for its potential efficacy.
Research is ongoing, and clinical trials are essential to determine the effectiveness and safety of these potential treatments in patients with rhabdoid cancer. - Metabolites
- For rhabdoid cancer, the study of metabolites—small molecules involved in metabolism—is an emerging area, but specific metabolites directly linked to the disease are not well-documented or defined yet. Most research on rhabdoid cancer focuses on genetic mutations, particularly in the SMARCB1 gene, also known as INI1 or hSNF5. Comprehensive metabolomic profiling is needed to identify potential metabolites specific to rhabdoid cancer.
- Nutraceuticals
- Rhabdoid cancer, particularly malignant rhabdoid tumor (MRT), is an aggressive and rare pediatric cancer. Nutraceuticals, which are products derived from food sources that provide additional health benefits, are not currently standardly incorporated into the treatment for this type of cancer. Research into their potential benefits is limited and inconclusive. Patients with MRT typically undergo conventional treatments such as surgery, chemotherapy, and radiation. It is essential to consult oncologists for the most effective treatment protocols.
- Peptides
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For rhabdoid cancer, peptides and nanotechnology represent promising areas of research for diagnosis and treatment. Peptides, which are short chains of amino acids, may be used to develop targeted therapies that can specifically home in on cancer cells to deliver drugs or induce immune responses. Nanotechnology involves the use of nanoparticles for more precise drug delivery, enhanced imaging, or even cancer cell destruction.
Further research is ongoing to better understand how to effectively leverage these advancements in clinical settings for improved outcomes in patients with rhabdoid cancer.