Rhabdomyosarcoma Blood Test

What is Rhabdomyosarcoma?

Rhabdomyosarcoma is a rare and aggressive soft tissue cancer that develops from skeletal muscle cells, primarily affecting children and adolescents. It is caused by genetic mutations that lead to uncontrolled growth of immature muscle cells called rhabdomyoblasts. The IGF-2 blood test is the most important tumor marker test for rhabdomyosarcoma because these tumors frequently overexpress insulin-like growth factor 2.

RECOMMENDED TEST IGF-2
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What causes rhabdomyosarcoma?

Rhabdomyosarcoma is caused by genetic mutations that disrupt the normal development of skeletal muscle cells, leading immature muscle cells called rhabdomyoblasts to grow uncontrollably. These mutations often involve genes like PAX3-FOXO1 or PAX7-FOXO1 in alveolar rhabdomyosarcoma, or RAS pathway genes in embryonal rhabdomyosarcoma. While the exact trigger for these mutations is unknown, certain genetic syndromes like Li-Fraumeni syndrome and neurofibromatosis increase the risk of developing this rare childhood cancer.

What is the best test for rhabdomyosarcoma?

The IGF-2 blood test is the most important tumor marker test for rhabdomyosarcoma because these tumors frequently overexpress insulin-like growth factor 2, which drives tumor growth and progression. Monitoring IGF-2 levels helps assess tumor activity and treatment response in patients with this rare sarcoma. However, diagnosis requires tissue biopsy and imaging studies like MRI or CT scans, as blood tests alone cannot confirm rhabdomyosarcoma. The IGF-2 test serves as a valuable monitoring tool alongside other diagnostic methods to track disease progression and evaluate how well treatment is working.

When should I get tested for rhabdomyosarcoma?

You should get tested if you notice a persistent lump or swelling anywhere on the body that continues to grow, especially in the head and neck area, arms, legs, or pelvic region. Additional warning signs include unexplained pain in the affected area, bulging eyes or vision problems, nosebleeds or nasal congestion that does not improve, or difficulty urinating or having bowel movements. Parents should seek immediate medical evaluation for children who develop these symptoms, as early detection significantly improves treatment outcomes for this aggressive childhood cancer.

What are the symptoms of rhabdomyosarcoma?
Symptoms of rhabdomyosarcoma vary depending on where the tumor is located. Common signs include a noticeable lump or swelling that may or may not be painful, persistent pain in the affected area, and symptoms related to tumor location like eye bulging, vision problems, chronic nosebleeds, ear pain, difficulty swallowing, blood in urine, or constipation. Children may experience unexplained weight loss, fatigue, or fever. The symptoms often develop gradually and can be mistaken for injuries or infections, which is why any persistent or growing mass should be evaluated by a doctor promptly.
Who is at risk for rhabdomyosarcoma?
Rhabdomyosarcoma primarily affects children and adolescents, with most cases diagnosed before age 10 and a second peak in the teenage years. Children with certain genetic conditions like Li-Fraumeni syndrome, neurofibromatosis type 1, Beckwith-Wiedemann syndrome, and Costello syndrome have a higher risk. Boys are slightly more likely to develop rhabdomyosarcoma than girls. While rare, adults can also develop this cancer, though it accounts for less than 3% of all soft tissue sarcomas in adults. Having a family history of cancer or previous radiation exposure may also increase risk.
What happens if rhabdomyosarcoma is left untreated?
If rhabdomyosarcoma is left untreated, the tumor will continue to grow aggressively and spread to other parts of the body, most commonly the lungs, bone marrow, bones, and lymph nodes. As the cancer progresses, it can cause severe pain, organ dysfunction, and life-threatening complications depending on the tumor location. Untreated rhabdomyosarcoma is fatal, typically within months, as it rapidly destroys surrounding tissues and spreads throughout the body. However, with prompt treatment including surgery, chemotherapy, and radiation, survival rates have improved dramatically, with many patients achieving long-term remission, making early diagnosis and treatment absolutely critical.
Can rhabdomyosarcoma be diagnosed with a blood test?
Rhabdomyosarcoma cannot be diagnosed with a blood test alone, as definitive diagnosis requires tissue biopsy to examine tumor cells under a microscope and identify characteristic genetic markers. However, the IGF-2 blood test can be a valuable monitoring tool since many rhabdomyosarcoma tumors overexpress insulin-like growth factor 2. Blood tests also help assess overall health, organ function, and blood cell counts before and during treatment. Imaging studies like MRI, CT scans, and PET scans are essential for identifying the tumor location, size, and whether it has spread to other areas of the body.
How is rhabdomyosarcoma treated?
Rhabdomyosarcoma is treated with a combination of chemotherapy, surgery, and radiation therapy tailored to the tumor location, size, and whether it has spread. Chemotherapy is typically the first treatment and is used for all patients to shrink the tumor and kill cancer cells throughout the body. Surgery may be performed to remove the tumor when possible, though complete removal can be challenging depending on location. Radiation therapy targets any remaining cancer cells in the tumor area. Treatment usually lasts 6 to 12 months and requires a specialized pediatric oncology team with expertise in childhood sarcomas to achieve the best outcomes.
How can I prevent rhabdomyosarcoma?
There is no known way to prevent rhabdomyosarcoma since it develops from random genetic mutations that occur during cell development. Unlike many adult cancers, childhood cancers like rhabdomyosarcoma are not linked to lifestyle factors or environmental exposures that can be avoided. For families with genetic syndromes that increase cancer risk, genetic counseling and regular medical monitoring can help detect tumors early when they are most treatable. The best approach is awareness of symptoms and seeking prompt medical evaluation for any unexplained lumps or persistent symptoms in children, as early detection significantly improves treatment success and survival rates.
What can I do at home to support rhabdomyosarcoma treatment?
While rhabdomyosarcoma requires intensive medical treatment, you can support recovery at home by ensuring proper nutrition with high-protein, high-calorie foods to maintain strength during chemotherapy. Help manage treatment side effects like nausea with small, frequent meals and stay hydrated with plenty of fluids. Create a calm, comfortable environment for rest and recovery, as fatigue is common during cancer treatment. Keep the child away from crowds and sick people since chemotherapy weakens the immune system. Maintain open communication with the medical team about any new symptoms or concerns, attend all follow-up appointments, and consider connecting with support groups for families facing childhood cancer for emotional support throughout the treatment journey.
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Long story short:
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  2. If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
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  6. Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
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  8. If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.
How do I know which test to get?
In the test options, find the test you want. If you’re not sure which test to get, we can lend a hand in finding the right option.

Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.
Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?
Absolutely! We totally understand that errors can happen. No worries, we're here to help you.

Just reach out to us via text at 754-799-7833 or shoot us an email at support@privatemdlabs.com. Remember to include your order number and let us know the correct information you’d like to update. Our awesome team will jump right in and make sure everything is sorted out and accurate for you.

There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.

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Only HSA & FSA is accepted.

Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.

This policy applies to all insurance companies, including federal health insurance programs like Medicare.

If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.
Can I cancel my order?
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We get it – sometimes your needs change.

As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.

If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

You can read more about our cancellation policy here.
How can I find a lab location near me?
During the ordering process, you’ll be able to select a specific lab near you, with no strings attached! You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).

Before you proceed with your order, feel free to browse through all our lab locations here. This will give you the peace of mind of knowing that there's a lab nearby your home, office or your favorite gym.

If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.
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Your testosterone levels are slightly below the optimal range. While this is not necessarily cause for concern, it may contribute to occasional fatigue, reduced motivation, or lower muscle mass over time.

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* Regular blood test results (e.g., CBC) typically start arriving the next business day after sample collection. More complex tests, such as hormone panels, may take up to 10–15 business days due to their complexity.

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IGF-2
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No extra fees paid at the lab

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