Nephroblastoma
Disease Details
Family Health Simplified
- Description
- Nephroblastoma, also known as Wilms' tumor, is a rare kidney cancer that primarily affects children.
- Type
- Nephroblastoma, also known as Wilms' tumor, is a type of kidney cancer that primarily affects children. The genetic transmission can involve both hereditary and non-hereditary factors. While most cases are sporadic, some cases result from inherited syndromes, such as WAGR syndrome, Denys-Drash syndrome, and Beckwith-Wiedemann syndrome, typically involving mutations in the WT1 gene on chromosome 11.
- Signs And Symptoms
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Typical signs and symptoms of Wilms' tumor include the following:
a painless, palpable abdominal mass
loss of appetite
abdominal pain
fever
nausea and vomiting
blood in the urine (in about 20% of cases)
high blood pressure in some cases (especially if synchronous or metachronous bilateral kidney involvement)
Rarely as varicocele - Prognosis
- Nephroblastoma, also known as Wilms' tumor, primarily affects children and has a generally favorable prognosis when diagnosed and treated early. The survival rate exceeds 90% for early-stage tumors with appropriate treatment, which typically includes a combination of surgery, chemotherapy, and sometimes radiation therapy. Factors influencing prognosis include the tumor stage, histology, and response to therapy.
- Onset
- Nephroblastoma, also known as Wilms' tumor, typically occurs in children, with the majority of cases diagnosed between the ages of 3 and 4. The condition is rare in older children and adults.
- Prevalence
- Nephroblastoma, also known as Wilms' tumor, primarily affects children and is relatively rare. It occurs in approximately 1 in 10,000 children, typically diagnosed before the age of 5. The annual incidence is about 500 cases in the United States.
- Epidemiology
- Wilms tumor is the most common malignant renal tumor in children. There are a number of rare genetic syndromes that have been linked to an increased risk of developing Wilms Tumor. Screening guidelines vary between countries; however health care professionals are recommending regular ultrasound screening for people with associated genetic syndromes.Wilms' tumor affects approximately one person per 10,000 worldwide before the age of 15 years. People of African descent may have slightly higher rates of Wilms' tumor. The peak age of Wilms' tumor is 3 to 4 years and most cases occur before the age of 10 years. A genetic predisposition to Wilms' tumor in individuals with aniridia has been established, due to deletions in the p13 band on chromosome 11.
- Intractability
- Nephroblastoma, also known as Wilms' tumor, is generally not considered intractable. With early diagnosis and appropriate treatment, which typically includes surgery, chemotherapy, and sometimes radiation therapy, the prognosis for many children is favorable. Advances in treatment have significantly improved survival rates.
- Disease Severity
- Nephroblastoma, also known as Wilms' tumor, is a type of kidney cancer primarily affecting children. The disease severity can vary widely depending on the stage at diagnosis, tumor size, and presence of metastasis. Early-stage tumors generally have a good prognosis with appropriate treatment, while advanced stages or metastatic disease can be more challenging to treat. Prompt diagnosis and treatment significantly improve outcomes. The term "nan" might refer to data not available or not applicable in a specific context.
- Healthcare Professionals
- Disease Ontology ID - DOID:2154
- Pathophysiology
- Nephroblastoma, also known as Wilms' tumor, primarily affects children and originates in the kidneys. The pathophysiology of nephroblastoma involves the abnormal proliferation of embryonic renal cells, which results from mutations in several genes such as WT1, WT2, and others on chromosome 11. These genetic mutations disrupt normal renal development, leading to uncontrolled cell growth and tumor formation. The tumor often contains a mix of cell types, including blastemal, stromal, and epithelial cells, reflecting its origin from pluripotent kidney precursor cells.
- Carrier Status
- Nephroblastoma, also known as Wilms' tumor, is primarily a pediatric kidney cancer. Carrier status is not applicable because the condition typically arises sporadically rather than being inherited in a simple Mendelian fashion. Although certain genetic syndromes and mutations in specific genes (like WT1) can increase risk, there isn't a straightforward carrier status typically associated with nephroblastoma.
- Mechanism
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Nephroblastoma, also known as Wilms' tumor, is a pediatric kidney cancer. The mechanism involves uncontrolled cellular proliferation in the kidney due to genetic mutations. Key molecular mechanisms include:
1. **WT1 Gene Mutations**: The WT1 gene, located on chromosome 11p13, is crucial for kidney development. Mutations or deletions in WT1 disrupt normal kidney cell differentiation, leading to tumor formation.
2. **WNT Signaling Pathway**: Abnormal activation of the WNT signaling pathway, particularly mutations in the CTNNB1 gene encoding β-catenin, contribute to tumor growth.
3. **IGF2 Gene Imprinting**: IGF2 (insulin-like growth factor 2) gene, located on chromosome 11p15, often shows loss of imprinting in Wilms' tumor, resulting in overexpression and promoting cell proliferation.
4. **MicroRNAs**: Altered expression of microRNAs, such as miR-17~92 cluster, play roles in the regulation of gene expression relevant to cell cycle and apoptosis, contributing to oncogenesis.
These molecular changes disrupt normal cellular growth control mechanisms, leading to the development of nephroblastoma. - Treatment
- Nephroblastoma, also known as Wilms' tumor, is typically treated with a combination of surgery, chemotherapy, and sometimes radiation therapy. The specific treatment plan often depends on factors such as the stage and histology of the tumor. Surgery usually involves a nephrectomy, where the affected kidney is removed. Chemotherapy may be given before or after surgery to reduce the size of the tumor and eliminate any remaining cancer cells. Radiation therapy may be considered in cases where the tumor is more advanced or if there are concerns about residual disease post-surgery.
- Compassionate Use Treatment
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Nephroblastoma, also known as Wilms' tumor, is a type of kidney cancer that primarily affects children. When standard treatments are not effective or available, compassionate use and off-label or experimental treatments might be considered.
**Compassionate Use Treatment:**
Compassionate use involves providing access to experimental drugs or treatments to patients with serious illnesses who have exhausted approved treatment options and are not eligible for clinical trials. For nephroblastoma, this could include access to novel chemotherapeutic agents, targeted therapies, or immunotherapies that are still in the experimental stages.
**Off-label or Experimental Treatments:**
- **Targeted Therapy:** Some drugs, like tyrosine kinase inhibitors (e.g., sunitinib or sorafenib), might be used off-label to target specific pathways involved in tumor growth.
- **Immunotherapy:** Agents like checkpoint inhibitors (e.g., pembrolizumab or nivolumab) could be used experimentally, leveraging the body's immune system to fight the cancer.
- **Gene Therapy:** Experimental approaches might include gene therapy to correct genetic mutations involved in the development of nephroblastoma.
- **Novel Chemotherapeutics:** New chemotherapy drugs or combinations might be considered outside their traditional indications.
All these treatments should be considered in the context of clinical trials where possible, as this can provide access to cutting-edge therapies while contributing to scientific knowledge. Always consult with an oncologist specializing in pediatric cancers to understand potential benefits and risks. - Lifestyle Recommendations
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Nephroblastoma, also known as Wilms' tumor, primarily affects children and is a type of kidney cancer. While lifestyle factors are not known to prevent or cause this condition, certain recommendations can help manage the overall health and wellbeing of affected children:
1. **Follow Medical Advice:** It's crucial to adhere to the treatment plan prescribed by healthcare professionals, which may include surgery, chemotherapy, and/or radiation therapy.
2. **Nutrition:** Provide a balanced diet rich in fruits, vegetables, whole grains, and lean proteins to support overall health and recovery. Consulting a pediatric nutritionist may be beneficial.
3. **Hydration:** Ensure the child stays well-hydrated, especially if undergoing treatments that may affect kidney function.
4. **Physical Activity:** Encourage age-appropriate physical activities as tolerated, which can help improve physical and mental well-being.
5. **Regular Check-ups:** Keep up with scheduled follow-ups and screenings to monitor the child's health and detect any potential recurrence early.
6. **Emotional Support:** Provide emotional support and consider counseling or support groups for the child and family to help cope with the psychological impact of the disease and its treatment.
These lifestyle recommendations can complement medical treatment and help maintain the child's overall health. - Medication
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For nephroblastoma (Wilms tumor), the treatment usually involves a combination of surgery, chemotherapy, and sometimes radiation therapy. Specific medications commonly used in chemotherapy for nephroblastoma include:
1. **Vincristine**
2. **Actinomycin D (Dactinomycin)**
3. **Doxorubicin**
The particular chemotherapy regimen and duration depend on the stage and histology of the tumor. - Repurposable Drugs
- For nephroblastoma, also known as Wilms' tumor, there are no clearly established repurposable drugs at this time. Current treatment typically involves a combination of surgery, chemotherapy, and sometimes radiation therapy tailored to the stage and specific characteristics of the tumor. However, ongoing research may identify potential repurposable drugs in the future.
- Metabolites
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Nephroblastoma, also known as Wilms' tumor, is a type of kidney cancer predominantly affecting children. There is limited specific information on characteristic metabolites unique to nephroblastoma, as the disease's focus is typically on genetic mutations and cellular abnormalities.
"Nan" as stated, doesn't provide sufficient context. If referring to nanoparticles (nanotechnology), research is ongoing in using nanoparticles for targeted drug delivery and imaging in nephroblastoma treatment, but this is still under clinical investigation and not yet a standard practice. If referring to other contexts, please provide more details for an accurate response. - Nutraceuticals
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Nephroblastoma, also known as Wilms' tumor, is a type of kidney cancer primarily affecting children. Currently, the primary treatments include surgery, chemotherapy, and sometimes radiation therapy. There is limited scientific evidence supporting the use of nutraceuticals in the treatment or prevention of nephroblastoma.
In the context of nanotechnology, research is ongoing to explore the potential applications of nanomedicine for more targeted drug delivery systems, which could minimize side effects and improve the effectiveness of chemotherapy in treating nephroblastoma. However, these approaches are still largely in the experimental stages and not yet widely available as standard treatment. - Peptides
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Peptides are short chains of amino acids that can play various roles in the body, including as signaling molecules or therapeutic agents. In the context of nephroblastoma (also known as Wilms' tumor), researchers are exploring peptide-based therapies and diagnostics to target specific pathways involved in tumor growth and progression.
Nanotechnology (abbreviated as "nan") is being researched for its potential applications in nephroblastoma. Nanoparticles can be used for targeted drug delivery, improving the efficacy and reducing the side effects of chemotherapy. Additionally, they can be utilized in imaging and diagnostics to detect tumors more accurately.
Combining peptides and nanotechnology holds promise for developing new, more effective treatments for nephroblastoma by precisely targeting cancer cells while minimizing harm to healthy tissues.