Research Identifies Genetic Precursors to Rhabdomyosarcoma

According to Oncology Nursing News, a new study performed by researchers at the Baylor College of Medicine used germline testing to identify genetic precursors to pediatric rhabdomyosarcoma. The study identified alternate genes potentially associated with this rare cancer, prompting a potential new line of research in the future. Additionally, the researchers suggest that genetic testing strategies may need to change. Read the full findings published in the Journal of the National Cancer Institute.

The Research

The National Cancer Institute (NCI) explains that a germline variant is:

A gene change in a reproductive cell (egg or sperm) that becomes incorporated into the DNA of every cell in the body of the offspring. A variant (or mutation) contained within the germline can be passed from parent to offspring, and is, therefore, hereditary.

Within the study, researchers identified germline variants in pediatric patients with rhabdomyosarcoma using whole-exome sequencing. These variants predisposed these patients to cancer. The variants were discovered in 15 separate autosomal dominant genes. Significantly, the pediatric patients had much higher levels of variants than the associated control group.

Many of the variants were linked to a heightened risk of rhabdomyosarcoma, including BRCA2, HRAS, and TP53 gene mutations. Normally, the BRCA2 gene mutation is associated with ovarian and breast cancer. However, this study highlighted it as a potential new avenue of study for this rare cancer. In fact, those with BRCA genes may have a higher risk of, and be more susceptible to, other forms of cancer.

Ultimately, the study suggests that learning how frequently these variants are associated with rhabdomyosarcoma can improve genetic testing strategies and guidelines moving forward.


While doctors are not sure of the exact cause of rhabdomyosarcoma, a rare cancer which develops in soft tissue, they have narrowed down risk factors such as certain genetic conditions and a family history of cancer. Generally, this cancer forms in skeletal tissue. Most commonly, rhabdomyosarcoma is found in the urinary and reproductive systems, arms, legs, head, and neck. Because rhabdomyoblasts, which create skeletal muscles, typically develop into rhabdomyosarcoma during fetal development, this cancer usually affects children. This is caused embryonal rhabdomyosarcoma. However, in rare cases, this cancer can occur in people of all ages.

Symptoms vary based on where the tumor is located. For example, those with rhabdomyosarcoma in the head or neck may experience:

  • Headaches
  • Bulging or swelling eyes
  • Throat, nose, and ear bleeding

However, rhabdomyosarcoma in the legs may cause pain and swelling; rhabdomyosarcoma in the urinary or reproductive systems may cause bloody urine, difficulty urinating, vaginal or rectal masses, and difficulty passing bowel movements. The prognosis depends on where the tumor is located, how quickly it is found, and what treatments can be performed.

Learn more about rhabdomyosarcoma.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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