Embryonal Rhabdomyosarcoma
Disease Details
Family Health Simplified
- Description
- Embryonal rhabdomyosarcoma is a malignant soft tissue tumor that primarily affects children, originating from skeletal muscle progenitor cells.
- Type
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Embryonal rhabdomyosarcoma is a type of soft tissue sarcoma. It typically affects children and is characterized by the presence of cells that resemble developing skeletal muscle.
The genetic transmission of embryonal rhabdomyosarcoma is not inherited in a straightforward Mendelian pattern; instead, it typically arises sporadically. However, certain genetic mutations or hereditary syndromes, such as Li-Fraumeni syndrome and Costello syndrome, can increase the risk of developing this cancer. - Signs And Symptoms
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Embryonal rhabdomyosarcoma typically presents with the following signs and symptoms:
- A noticeable lump or swelling that may be painful or painless.
- Bulging of the eye or a drooping eyelid if the tumor is near the eye.
- Nasal congestion, nosebleeds, or sinus infections if the tumor is in the nasal cavity or sinuses.
- Difficulty urinating, blood in the urine, or difficulty with bowel movements if the tumor is in the pelvic or abdominal area.
- Vaginal bleeding or a mass if the tumor is affecting the vagina.
These symptoms can vary depending on the tumor's location. - Prognosis
- The prognosis for rhabdomyosarcoma has improved greatly in recent decades, with over 70% of people surviving for five years after diagnosis. The combined use of radiotherapy and surgery has significantly reduced the mortality rates compared to patients who did not undergo any radiotherapy or chemotherapy treatments. Embryonal rhabdomyosarcoma is generally associated with better prognosis than alveolar rhabdomyosarcoma, with a five-year survival prognosis of 82% and 53%, respectively. This may be due to the more aggressive and metastatic nature of ARMS that can be attributed to its PAX3–FOXO1 or PAX7–FOXO1 gene fusions. Nevertheless, some embryonal rhabdomyosarcoma patients with a rare Leu122Arg mutation in MYOD1 gene have a very poor outcome. In two different studies, none of the subjects with the MYOD1 mutation survived. Tumors due to this mutation commonly manifest in the head and neck area, causing the mutated protein to behave like an oncogene.There have not been many studies linking the genetic profile and clinical outcome of ERMS. However, in "A Report From an International Consortium", the authors analyzed patient data from the Children's Oncology Group (COG) and European paediatric Soft tissue sarcoma Study Group (EpSSG), hoping to identify and analyze any relationship between clinical outcomes and genetic mutations. The study consisted of 641 patients with sufficient data to analyze.Contrary to previous research, the findings of this study suggest that having RAS isoform mutations did not necessarily equate to a poor development of the disease. However, a pattern was found between the RAS isoform mutation seen and one's stage in life; HRAS isoform in infants, KRAS isoform in toddlers, and NRAS isoform in adolescence. This clinical study also found similar results as previous studies with the correlation of TP53 mutations and clinical outcome. TP53 mutations tended to result in a worsening development and clinical outcome of the disease. Although MYOD1 mutations make up a small percentage of ERMS, these mutations have been seen to have a negative prognosis and more studies should be conducted to understand how to treat the clinical condition of this specific mutation.
- Onset
- Embryonal rhabdomyosarcoma is a type of cancer that typically occurs in children, with the most common onset between ages 2 and 6.
- Prevalence
- Embryonal rhabdomyosarcoma is the most common type of rhabdomyosarcoma, which is a rare cancer that forms in soft tissue, often in children. The annual incidence is approximately 4.3 cases per million children in the United States. It accounts for about 3% of all childhood cancers.
- Epidemiology
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Embryonal rhabdomyosarcoma (ERMS) is a type of soft tissue cancer that primarily affects children. It originates from immature muscle cells.
### Epidemiology:
- **Age**: Most commonly occurs in children under 10 years old.
- **Gender**: Slightly higher incidence in boys than in girls.
- **Incidence**: ERMS is the most common subtype of rhabdomyosarcoma, contributing to approximately 60-70% of all rhabdomyosarcoma cases.
- **Geographical Distribution**: No significant geographical variations in occurrence have been noted.
"Nan" usually refers to something being not available or not applicable. If you need information on this specific term related to ERMS, please provide more context. - Intractability
- Yes, embryonal rhabdomyosarcoma can be intractable in some cases. It is a type of soft tissue sarcoma that primarily affects children. While treatments like surgery, chemotherapy, and radiation therapy can be effective, the disease can be challenging to treat if it is diagnosed at an advanced stage or if it does not respond well to standard therapies. The prognosis depends on various factors including the location, size, and spread of the tumor, as well as the patient's overall health and response to treatment.
- Disease Severity
- Embryonal rhabdomyosarcoma is a type of soft tissue sarcoma that is most commonly seen in children. The severity of this disease can vary depending on factors such as the location and size of the tumor, whether the cancer has spread (metastasized), and the patient's response to treatment. It is considered aggressive, requiring a combination of surgery, chemotherapy, and sometimes radiation therapy for effective management.
- Healthcare Professionals
- Disease Ontology ID - DOID:3246
- Pathophysiology
- Embryonal rhabdomyosarcoma is a malignant tumor that originates from skeletal muscle progenitors, typically affecting children. It is characterized by the presence of undifferentiated mesenchymal cells that resemble embryonic skeletal muscle cells. The precise pathophysiology involves genetic mutations and chromosomal abnormalities, such as loss of heterozygosity at 11p15 and mutations in the PAX3, PAX7, and FKHR genes. These genetic alterations lead to uncontrolled cell proliferation and impaired differentiation, resulting in tumor formation and growth. No further information on "nan" is available in this context.
- Carrier Status
- Embryonal rhabdomyosarcoma is a type of cancer that primarily affects skeletal muscle tissue, most commonly in children. There is no specific "carrier status" for this disease because it typically arises from mutations that occur in early development rather than being inherited in a traditional genetic sense. However, some genetic conditions, like Li-Fraumeni syndrome, can increase the risk of developing rhabdomyosarcoma.
- Mechanism
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Embryonal rhabdomyosarcoma (ERMS) is a malignant soft tissue sarcoma that arises from embryonal skeletal muscle cells. It predominantly affects children. The mechanism and molecular mechanisms of ERMS are complex and involve various genetic and epigenetic alterations.
**Mechanism:**
ERMS occurs when myogenic precursor cells (cells involved in muscle formation) undergo malignant transformation, leading to uncontrolled growth and failure to differentiate into mature muscle fibers.
**Molecular Mechanisms:**
1. **Genetic Alterations:**
- **Mutations in the RAS Pathway:** Mutations in genes such as NRAS, KRAS, and HRAS are frequently observed, leading to overactivation of the RAS-MAPK pathway, promoting cell proliferation and survival.
- **TP53 Mutations:** Loss of function or mutations in the TP53 tumor suppressor gene can contribute to genomic instability and unchecked cell division.
- **Loss of Heterozygosity (LOH):** LOH at chromosomes 11p15.5 and 16q is often seen, pointing to the involvement of tumor suppressor genes in these regions.
2. **Epigenetic Changes:**
- **Imprinting Disorders:** Alterations in the imprinting of 11p15.5, which includes the insulin-like growth factor 2 (IGF2) gene, can lead to overexpression and enhanced cell growth.
- **MicroRNAs (miRNAs):** Dysregulation of miRNAs can affect gene expression patterns, influencing cell proliferation and apoptosis.
3. **Fusion Genes:**
- While fusion genes are predominantly associated with the alveolar subtype of rhabdomyosarcoma, rare cases in ERMS may show fusion genes such as PAX3-FOXO1 and PAX7-FOXO1, which result from chromosomal translocations. These fusions create oncogenic transcription factors that drive tumorigenesis.
Overall, the development and progression of ERMS are driven by a combination of genetic mutations, epigenetic changes, and in some cases, chromosomal abnormalities that disrupt normal cell regulatory mechanisms. - Treatment
- Treatment for embryonal rhabdomyosarcoma involves the use of combination therapy consisting of chemotherapy, surgery, and/or radiation therapy. In order to create an optimal treatment plan for the individual, therapy is often based upon risk stratification (low, intermediate, or high risk) based on an individual's disease stage, size of tumor, progression of disease, surgery resection, age at diagnosis, and site of tumor. In the US, a combination of Vincristine, Actinomycin D, and cyclophosphamide are often the chemotherapeutics used to treat rhabdomyosarcoma. In contrast, the regimen in Europe utilizes Vincristine, Actinomycin D, and ifosfamide. When the US and European regimen were studied side by side, the two regimens were comparable in terms of efficacy outcomes. Radiation therapy continues to be an integral component of rhabdomyosarcoma treatment; however, the long-term safety and treatment related complications remain a concern. Advancement in the use of radiation therapy includes using three-dimensional conformal radiation therapy (3D-CRT) to create a three-dimensional image of tumor so providers can determine the dose of radiation per patient while limiting radiation exposure to normal tissues. Techniques such as multi-field optimization (MFP) allows for more precise distribution of proton beams.
- Compassionate Use Treatment
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For embryonal rhabdomyosarcoma, compassionate use treatment and off-label or experimental treatments can potentially be options for patients who have not responded to standard therapies. Compassionate use, also known as expanded access, allows patients to gain access to investigational drugs outside of clinical trials, typically when no comparable or satisfactory alternative therapy options are available and the patient has a serious or life-threatening condition.
Off-label treatments might involve the use of already approved drugs for other types of cancers or conditions that are not specifically approved for embryonal rhabdomyosarcoma. Examples might include certain chemotherapeutic agents or targeted therapies that have shown promise in similar tumor types.
Experimental treatments usually refer to therapies that are still in the clinical trial phase. These may include new chemotherapeutic agents, molecularly targeted therapies, immunotherapies, or combinations of existing treatments that are being tested for safety and efficacy in embryonal rhabdomyosarcoma.
Patients seeking these types of treatments typically need to consult with their oncologist to understand their eligibility and to help navigate the process of obtaining access to these therapies. Clinical trials and expanded access programs might require specific criteria to be met and can often provide hope for new treatment avenues. - Lifestyle Recommendations
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Embryonal rhabdomyosarcoma is a type of cancer that forms in muscle tissue. While lifestyle recommendations are not a substitute for medical treatment, they can support overall well-being during and after treatment. Here are some general lifestyle recommendations:
1. **Nutrition**: Maintain a balanced diet rich in fruits, vegetables, whole grains, and lean proteins to support the immune system and overall health.
2. **Physical Activity**: Engage in regular, moderate physical activity as tolerated. Exercise can help improve strength, energy levels, and overall quality of life.
3. **Hydration**: Stay well-hydrated by drinking plenty of water throughout the day.
4. **Sleep**: Ensure adequate rest and sleep to help the body recover and manage stress.
5. **Avoid Infections**: Practice good hygiene and avoid contact with people who are sick to reduce the risk of infections, especially if the immune system is compromised.
6. **Mental Health**: Seek support from counselors, support groups, or mental health professionals to manage stress, anxiety, and the emotional impact of living with cancer.
7. **Follow Medical Advice**: Adhere strictly to the treatment plan prescribed by healthcare providers, including medications, therapy sessions, and follow-up appointments.
8. **Avoid Tobacco and Limit Alcohol**: Refrain from smoking and limit alcohol consumption to reduce additional health risks.
Always consult with healthcare professionals before making any significant lifestyle changes. - Medication
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Embryonal rhabdomyosarcoma (ERMS) typically requires a multi-modal treatment approach that includes surgery, radiation therapy, and chemotherapy. Common medications (chemotherapeutic agents) used to treat ERMS include:
1. **Vincristine**: An anti-microtubule agent.
2. **Actinomycin D (Dactinomycin)**: An anti-tumor antibiotic.
3. **Cyclophosphamide**: An alkylating agent.
This combination is often referred to as the VAC regimen. The exact treatment protocol may vary depending on the specifics of the case, such as tumor location and stage. - Repurposable Drugs
- There are currently no widely recognized repurposable drugs specifically indicated for embryonal rhabdomyosarcoma. However, ongoing research is exploring potential repurposable options. Treatments often involve a combination of surgery, chemotherapy (with drugs such as vincristine, actinomycin-D, and cyclophosphamide), and radiation therapy. Consultation with an oncologist for the most current and individualized treatment options is recommended.
- Metabolites
- Metabolites associated with embryonal rhabdomyosarcoma are not extensively characterized, but research indicates that alterations in amino acids, lipids, and energy metabolism may play roles. Specific metabolites of interest include elevated levels of lactate, glutamine, and certain phospholipids. Further studies are needed to establish comprehensive metabolic profiles for this aggressive pediatric cancer.
- Nutraceuticals
- Nutraceuticals do not have a well-established role in the treatment of embryonal rhabdomyosarcoma. This type of pediatric cancer typically requires a combination of conventional treatments, such as surgery, chemotherapy, and radiation therapy. While some nutraceuticals may support general health, their efficacy and safety specifically for embryonal rhabdomyosarcoma have not been sufficiently studied. It is crucial to consult healthcare professionals for evidence-based treatment options.
- Peptides
- Embryonal rhabdomyosarcoma (ERMS) is a type of cancer that arises from skeletal muscle progenitors and is most commonly seen in children. Research and treatment strategies for ERMS often explore targeted therapies, including the use of peptides. Peptides may be designed to target specific receptors or pathways involved in the cancer's growth and proliferation. Additionally, peptide-based vaccines or inhibitors can be developed to enhance the immune response against tumor cells or inhibit their growth. Nanotechnology-based approaches, such as nanoparticle delivery systems, are also being investigated to improve the delivery and effectiveness of peptide-based treatments, potentially reducing side effects and enhancing therapeutic outcomes.