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Rhabdomyosarcoma Care in Pune
At Sancheti Hospital, we specialize in treating Rhabdomyosarcoma with precision, combining surgery, chemo, and rehab for faster recovery and better outcomes.
Overview
Rhabdomyosarcoma (RMS) is a rare but aggressive type of cancer that mainly affects children and teenagers. This childhood cancer develops from cells that normally would become skeletal muscle but fail to develop properly. While RMS can occur in almost any part of the body, it most commonly appears in the head and neck area, the genitourinary tract, and the arms or legs.
As the most common soft tissue sarcoma in children, RMS ranks as the third most frequent solid tumor in young patients. The good news is that advances in diagnosis and treatment options have significantly improved outcomes for many patients, especially those with localized disease. However, challenges remain for patients with advanced or metastatic disease.
Modern RMS management requires a multidisciplinary team approach that combines chemotherapy, surgery, and radiation therapy. This comprehensive strategy has helped improve survival rates and quality of life for many young patients facing this diagnosis.
Symptoms
The signs and symptoms of rhabdomyosarcoma vary greatly depending on where the tumor is located, its size, and whether it has spread to other parts of the body. Often, RMS may not cause pain initially, but it can grow significantly before being detected.
Common Signs Include:
- Lump or swelling: This is usually the first noticeable sign, especially when the tumor is in the neck, chest, back, arms, legs, or groin area. The lump may be accompanied by pain or redness.
- Eye or vision changes: When RMS develops around the eye, it can cause the eye to bulge out or create a cross-eyed appearance. Vision problems may also occur.
- Bleeding: RMS tumors often have fragile blood vessels that bleed easily. This can show up as nosebleeds, blood in urine, or vaginal bleeding, depending on the tumor location.
- Sinus problems or headaches: Tumors in the nasal sinuses can cause symptoms similar to a cold or sinus infection, including earaches, headaches, or blocked nasal passages.
- Belly pain or swelling: For tumors in the abdomen or pelvis, patients might experience vomiting, stomach pain, swelling, or constipation.
- Trouble with bathroom functions: Tumors in the urinary or reproductive system can grow large enough to block normal functions, causing difficulty or pain when urinating or having bowel movements.
In advanced cases, widespread RMS may cause symptoms like new lumps under the skin, bone pain, persistent cough, weakness, or unexplained weight loss. Since many of these symptoms can be caused by other less serious conditions, it’s important to see a healthcare professional if they persist or worsen.
Causes
The exact causes of rhabdomyosarcoma are not fully understood. Scientists know that RMS begins when soft tissue cells undergo DNA changes that cause them to grow and multiply uncontrollably. Normally, these cells would die as part of the natural cell cycle, but the DNA changes prevent this from happening, leading to tumor formation.
When cancer cells break away from the original tumor and travel through the body to form new tumors, this process is called metastasis. While most cases of RMS occur without a clear cause, some cases are linked to inherited genetic conditions.
Risk Factors
While the specific cause of RMS remains largely unknown, certain factors may increase the likelihood of developing this cancer:
Inherited Genetic Conditions:
RMS has been associated with several genetic disorders, including:
- Li-Fraumeni syndrome
- Neurofibromatosis type 1
- Beckwith-Wiedemann syndrome
- Costello syndrome
- Noonan syndrome
- DICER1 syndrome
Environmental Factors:
Some studies suggest that certain environmental influences may be associated with increased risk, though these findings are not conclusive.
It’s important to note that these risk factors apply to only a small percentage of cases, and the majority of RMS cases occur without any known predisposing factors.
Diagnosis
Diagnosis of rhabdomyosarcoma typically begins with a thorough physical examination and detailed medical history. Because RMS symptoms can mimic other conditions or injuries, diagnosis is sometimes delayed. Early diagnosis is crucial since RMS can spread quickly.
Imaging Tests:
Healthcare teams use various imaging techniques to determine the tumor‘s location, size, and whether it has spread:
- X-rays: Used for initial assessment of organs and bones
- CT scan: Provides detailed cross-sectional pictures of internal areas
- MRI scan: Preferred for muscle and soft tissue tumors due to better visualization
- PET scan: Helps identify cancer cells by detecting areas of high cellular activity
- Bone scan: Checks for cancer cells in bones
- Ultrasound: Can confirm tumor presence, though MRI and CT provide more detailed information
Procedures:
- Biopsy: The definitive diagnostic step involving tissue removal for microscopic examination. This can be done through needle biopsy or surgical biopsy.
- Bone marrow tests: Performed to check if cancer has spread to bone marrow
- Lumbar puncture: Collects spinal fluid to check for cancer cells, especially important for certain tumor locations
Laboratory Studies:
- Tissue analysis: Pathologists examine tissue samples under a microscope
- Genetic testing: Essential for identifying RMS subtypes and confirming diagnosis
- Blood tests: Include complete blood count and organ function tests to assess overall health and treatment readiness
Types
Rhabdomyosarcoma is classified into several main types based on how the cancer cells look under a microscope:
Embryonal Rhabdomyosarcoma (ERMS)
- Most common type, accounting for about 55-60% of all RMS cases
- Typically affects infants and children under 10 years old
- Often found in the head and neck region
- Generally has a more favorable prognosis
- Includes a variant called botryoid ERMS that occurs in body cavities
Alveolar Rhabdomyosarcoma (ARMS)
- Comprises about 20% of cases
- More aggressive due to higher tendency for metastasis and recurrence
- More common in adolescents and young adults
- Often affects deeper tissues of arms and legs
- Characterized by specific genetic changes that can affect treatment response
Other Types
- Spindle Cell and Sclerosing Rhabdomyosarcoma: Rare variant with excellent prognosis
- Pleomorphic Rhabdomyosarcoma: More common in adults and associated with higher risk
Understanding these types is crucial for determining the best treatment approach and predicting outcomes.
Stages
Staging rhabdomyosarcoma helps doctors understand how far the cancer has spread and plan the best treatment approach. The staging process considers several factors:
- Tumor size and extent
- Lymph node involvement
- Presence of distant metastasis
- Tumor location (favorable vs. unfavorable sites)
Risk Groups:
Based on staging, patients are placed into risk categories:
Low-risk RMS: Generally includes smaller tumors that can be completely removed with surgery
Intermediate-risk RMS: Includes tumors that are larger or in certain locations but haven’t spread widely
High-risk RMS: Includes cancer that has spread to distant parts of the body (metastatic disease)
This risk classification helps determine the intensity and duration of treatment needed.
Treatment
Treatment of rhabdomyosarcoma requires a multidisciplinary team approach that typically combines three main therapies. The specific treatment plan depends on the tumor‘s location, size, type, stage, and the patient’s overall health.
Surgery
Surgery aims to remove all cancer cells when possible. Complete removal with clear margins is ideal, but this isn’t always feasible, especially for tumors near vital organs where extensive surgery could cause significant problems. In some cases, surgery may be performed after chemotherapy to shrink the tumor first.
Chemotherapy
Chemotherapy is a cornerstone of RMS treatment and is used for nearly all patients to address potential cancer cells throughout the body. The most common combination includes drugs like vincristine, actinomycin D, and cyclophosphamide. These medications are given in cycles over several months.
Radiation Therapy
Radiation therapy is crucial for controlling local disease, especially in intermediate and high-risk patients. Modern techniques include:
- External beam radiation
- Intensity-modulated radiation therapy (IMRT)
- Proton beam therapy
- Brachytherapy (radioactive seeds placed directly in or near the tumor)
Novel Therapies
For patients with metastatic or recurrent RMS, researchers are investigating:
- Targeted therapy: Drugs that attack specific molecules involved in cancer growth
- Immunotherapy: Treatments that help the body’s immune system fight cancer
- Clinical trials: Offering access to the latest experimental treatments
Rehabilitation
Rehabilitation plays a crucial role in helping patients recover from RMS and its treatments. The intensive treatments needed to fight cancer can cause various long-term side effects that require ongoing support.
Areas Requiring Rehabilitation:
- Cognitive function: Radiation to the brain can affect memory, attention, and learning abilities
- Physical function: Including joint stiffness, mobility issues, and growth problems
- Sensory function: Such as vision or hearing problems
- Urinary and sexual function: Particularly for tumors affecting the genitourinary area
- Facial function: For tumors in the head and neck region
A multidisciplinary team including physical therapists, occupational therapists, speech therapists, and other specialists work together to help patients regain function and improve their quality of life.
Complications
Rhabdomyosarcoma and its treatments can lead to various complications that may affect a survivor’s quality of life. Understanding these potential issues helps patients and families prepare and seek appropriate support.
Potential Long-term Effects:
- Cognitive problems: Including difficulties with memory, attention, and learning
- Growth and development issues: Especially in young children
- Fertility problems: Chemotherapy and radiation can affect reproductive function
- Heart and lung problems: From certain chemotherapy drugs
- Bone and joint problems: Including growth abnormalities and increased fracture risk
- Vision and hearing problems: Particularly with head and neck tumors
- Kidney and bladder problems: From certain treatments
- Secondary cancers: A rare but serious long-term risk
Emotional and Social Challenges:
- Anxiety and depression
- School or work difficulties
- Social relationship challenges
- Body image concerns
Regular follow-up care and support from healthcare teams, counselors, and support groups can help manage these challenges.
Prevention
Currently, there are no known ways to prevent rhabdomyosarcoma in most cases. Since the majority of RMS cases occur without an identifiable cause, prevention strategies are limited.
However, for families with known genetic syndromes associated with RMS, some experts suggest:
- Regular monitoring through medical exams
- Genetic counseling
- Early screening in high-risk individuals
The goal of such monitoring would be to enable earlier diagnosis, which is critical for improving outcomes.
Living With Rhabdomyosarcoma
Living with a rhabdomyosarcoma diagnosis presents unique challenges for patients and families. However, with proper support and care, many survivors go on to lead fulfilling lives.
Strategies for Coping:
Education and Information: Learning about RMS, its treatments, and potential side effects helps families make informed decisions and feel more in control.
Building Support Networks: Staying connected with family and friends provides emotional support and practical help. Support groups for cancer patients and families can offer valuable connections with others who understand the journey.
Mental Health Support: Professional counseling can provide coping strategies for dealing with the emotional challenges of cancer treatment and survivorship.
Ongoing Medical Care: Regular follow-up appointments are essential for monitoring treatment response, managing side effects, and watching for any signs of recurrence or complications.
Focus on Quality of Life: Maintaining normal activities when possible, staying physically active as recommended by the medical team, and pursuing interests and hobbies can help maintain a positive outlook.
Planning for the Future: Discussing long-term goals, education plans, and career aspirations helps maintain hope and direction.
The journey with RMS is challenging, but with comprehensive medical care, strong support systems, and a focus on overall well-being, many patients and families successfully navigate this difficult time.
Key Takeaways
- Rhabdomyosarcoma is a rare but aggressive childhood cancer that requires immediate and intensive treatment
- Early diagnosis through proper imaging and biopsy is crucial for the best outcomes
- Treatment typically involves a combination of surgery, chemotherapy, and radiation therapy
- The prognosis depends on factors like tumor type, location, stage, and patient age
- Long-term side effects from treatment require ongoing monitoring and support
- Research continues to develop new targeted therapies and immunotherapy options
- A multidisciplinary team approach is essential for comprehensive care
At Sancheti Hospital, we understand the complex challenges that rhabdomyosarcoma presents to patients and families. Our comprehensive cancer care program brings together a dedicated multidisciplinary team of pediatric oncologists, surgeons, radiation oncologists, and support specialists who work collaboratively to provide the most advanced and compassionate care possible. We offer state-of-the-art diagnostic capabilities, including advanced imaging technologies and specialized pathology services, ensuring accurate diagnosis and staging. Our treatment approach incorporates the latest evidence-based protocols while maintaining a focus on preserving quality of life and minimizing long-term side effects. Beyond medical treatment, we provide comprehensive support services including rehabilitation programs, psychological counseling, nutritional guidance, and educational support to help patients and families navigate this challenging journey. Our commitment extends to long-term survivorship care, monitoring for complications, and providing ongoing support as patients transition back to normal life activities.
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Patient Stories & Experiences
The pain in my left knee left me feeling helpless for years. After my treatment here, I can finally say I'm pain-free.
Vinita Singh
The nerves were swollen, and the body went numb. But thanks to Sancheti Hospital, I got a second life!
Parvati
I finally could walk again, a relief I've only felt after the hip pain surgery. I thank the doctors at Sancheti Hospital for their help.
Balaji Kharat
I'm a police officer, and I'm extremely thankful to Sancheti Hospital for treating my fracture without surgery.
Shantilal
My life has completely changed after the knee replacement surgery at Sancheti Hospital. It's like I can finally live again!
Kalpana Lepcha
The knee pain I've carried for years finally went away with the help of Sancheti Hospital.
Karuna
I can't believe that I get to finally live a normal and happy life, all thanks to the knee surgery I had at Sancheti Hospital.
Kishore Bhosle
Frequently Asked Questions
How much does rhabdomyosarcoma treatment cost and is it covered by insurance?
Treatment costs vary significantly based on the stage and duration of therapy. Most health insurance plans cover cancer treatment, but families should discuss coverage details with their insurance provider and hospital financial counselors to understand out-of-pocket expenses and available financial assistance programs.
Will my child be able to have children after rhabdomyosarcoma treatment?
Chemotherapy and radiation can affect fertility, but this depends on the specific drugs used, radiation location, and patient age. Fertility preservation options like sperm banking for boys and egg freezing for girls may be recommended before treatment begins.
How long does rhabdomyosarcoma treatment take and when can my child return to school?
Treatment typically lasts 6-12 months, depending on the risk group. Many children can return to school part-time during treatment, with accommodations for medical appointments and fatigue. Schools often provide home tutoring services during intensive treatment phases.
Is rhabdomyosarcoma hereditary and should I worry about my other children?
Most RMS cases are not inherited. Only about 5-10% are linked to genetic syndromes. If there’s a family history of cancer or genetic conditions, genetic counseling can help assess risks for other family members.
What are the warning signs that rhabdomyosarcoma has returned after treatment?
Watch for new lumps or swelling, persistent pain, changes in bowel or bladder habits, vision problems, persistent cough, or unexplained fatigue. Regular follow-up appointments include scans to monitor for recurrence, but parents should report any concerning symptoms immediately.
