March 04, 2025
Rhabdomyosarcoma affects about 350 children a year in the United States. Some subtypes of the disease have a 70% survival after treatment. Other subtypes have a worse prognosis, and mortality is high if the disease recurs. With each patient requiring a highly individualized approach, it's critical to get the right care right away.
"Rare cancers need treatment by an experienced team," says Wendy A. Allen-Rhoades, M.D., Ph.D., a pediatric oncologist and hematologist at Mayo Clinic Children's Center in Rochester, Minnesota. "It's crucial to tackle these tumors with a multidisciplinary, personalized approach and with an experienced sarcoma surgical team."
Treatment strategies for rhabdomyosarcoma are multifaceted, typically incorporating a combination of chemotherapy, surgery and/or radiation therapy. The selection of treatment is guided by risk stratification, a framework that continues to evolve as research advances. Traditionally, risk assessment has been based on tumor histology and staging. However, emerging evidence highlights the significant role of tumor genetics in prognosis. According to research published in the February 2022 issue of Pediatric Blood & Cancer, alterations in key genes such as FOXO1, MYOD1 and TP53 have been identified as particularly important prognostic markers.
"Using in-house molecular pathology significantly accelerates the diagnostic process," says Dr. Allen-Rhoades. "It can reduce the wait time for results by as much as 1 to 2 weeks, giving families quicker answers and enabling faster, more personalized treatment options."
Natalie's case
Mayo Clinic Children's Center has assembled a specialized team focused on personalizing the care of pediatric head and neck rhabdomyosarcoma. Natalie's case illustrates how advancements in care have transformed outcomes.
Natalie initially presented to her primary physician with a suspected dental infection, but when the swelling worsened an MRI was ordered.
"When the MRI showed a mass, they reached out to me for an appointment," says Josh P. Wiedermann, M.D., a pediatric head and neck surgeon and otolaryngologist at Mayo Clinic Children's Center.
"Realizing that this was not something simple, we quickly arranged a biopsy to get definitive pathology," says Dr. Wiedermann. "As soon as I knew that it was rhabdomyosarcoma, I called Dr. Allen-Rhoades to initiate the multidisciplinary process."
Part of Mayo Clinic's standard rhabdomyosarcoma testing includes gene mutations responsible for treatment resistance, which was found in Natalie's case. This discovery revealed that her cancer would not respond to conventional chemotherapy or radiation, necessitating a shift in treatment strategy.
The pathology results and imaging were discussed at one of Mayo Clinic's multidisciplinary tumor boards. "The Pediatric Solid Tumor Board is a streamlined multidisciplinary group designed around pediatric head and neck cancer, and it meets on a weekly basis to discuss patient treatment plans," says Eric J. Moore, M.D., a head and neck surgeon and otolaryngologist at Mayo Clinic Children's Center.
"Because this is an uncommon and complex disease," says Dr. Allen-Rhoades, "it's even more important to have access to a wealth of information and experience."
"Having a fully encompassed pediatric team surrounding a patient like Natalie is paramount," says Dr. Wiedermann. "It brings every specialty to the table and allows the opportunity for further discussion with a patient's referring provider."
Because of the location of Natalie's tumor and her age, 3D-guided imaging and printed guides for surgical interventions are especially important for treatment and reconstruction.
"In order to potentially cure this disease, you must have negative margins after surgery," says Dr. Moore. "Using 3D-printed guides allows us to make cuts in the bone exactly where they need to be to remove all of the affected bone while also thinking ahead to the next step — reconstruction."
Ensuring comprehensive care for patients with rhabdomyosarcoma extends beyond immediate treatment to include considerations for long-term quality of life. One such example includes understanding the risk of cancer therapy on future fertility for young patients. Mayo Clinic Children's Center offers several options for fertility preservation, depending on the child's age, stage of puberty, diagnosis and proposed treatment plan. Some of these treatments can be combined with other procedures, reducing the number of times the child receives anesthesia.
"After completing her surgery and personalized treatment plan, Natalie is doing very well from a functional standpoint," says Dr. Moore. "She is back to playing on her hockey team full time, and we're elated to see no signs of tumor recurrence."
"Patients like Natalie benefit greatly from a multidisciplinary team with quick access to the variety of resources needed for treating this complex disease," says Dr. Allen-Rhoades. "Parents in the oncology community are seeking individualized care, because the standardized treatments don't always result in the best possible outcomes. It's important to see every pediatric cancer patient as a person, not a protocol."
For more information
Haduong JH, et al. An update on rhabdomyosaracoma risk stratification and the rational for current and future Children's Oncology Group clinical trials. Pediatric Blood & Cancer. 2022;69:e29511.
Refer a patient to Mayo Clinic.