Rhabdomyosarcoma is an aggressive soft tissue tumor that can arise virtually anywhere in the body.

The most common sites are the structures of the head and neck, the urogenital tract, and the arms or legs Causes The cause of rhabdomyosarcoma is unknown. It is a rare tumor with only several hundred new cases per year throughout the United States. Some children with certain birth defects are at increased risk, and some families have a gene mutation that elevates risk. However, the vast majority of children with rhabdomyosarcoma do not have any known risk factors.
Pathophysiology

The tumor is believed to arise from primitive muscle cells, but tumors can occur anywhere in the body; however, a primary bone rhabdomyosarcoma has not been reported. The most common sites are the head and neck (28%), extremities (24%), and genitourinary (GU) tract (18%). Other notable sites include the trunk (11%), orbit (7%), and retroperitoneum (6%). Rhabdomyosarcoma occurs at other sites in less than 3% of patients. The botryoid variant of ERMS arises in mucosal cavities, such as the bladder, vagina, nasopharynx, and middle ear. Lesions in the extremities are most likely to have an alveolar type of histology. Metastases are found predominantly in the lungs, bone marrow, bones, lymph nodes, breasts, and brain. As with most tumors of childhood, the cause of rhabdomyosarcoma is unknown. The alveolar variant is so named because of the thin criss-crossing fibrous bands that appear as spaces between cellular regions of the tumor (reminiscent of lung alveoli). This variant is usually associated with 1 of 2 chromosomal translocations, namely, t(2;13) or t(1;13). These result in the fusion of the DNA-binding domain of the neuromuscular developmental transcription factors, encoded by PAX3 on chromosome 2 or PAX7 on chromosome 14 , to the transcriptional activation domain of a relatively ubiquitous transcription factor, FKHR (or FOXO1a), which is encoded on chromosome 13. Less common translocations involving the PAX genes have been found in some rare cases.5 The resulting hybrid molecule is a potent transcription activator. It is believed to contribute to the cancerous phenotype by abnormally activating or repressing other genes. The embryonal subtype usually has a loss of heterozygosity at band 11p15.5; this observation suggests the presence of a tumor suppressor gene. Other molecular aberrations that may provide clues to the origin of the tumor and that may be useful for future treatment strategies include TP53 mutations (which occur in approximately one half of patients), an elevated N-myc level (in 10% of patients with ARMS), and point mutations in N-ras and Kras oncogenes (usually embryonal). In addition, levels of insulinlike growth factor-2 may be elevated, suggesting pathways involving autocrine and paracrine growth factors.6 Symptoms Symptoms vary depending on location of the tumor. Tumors in the nose or throat may cause bleeding, congestion, swallowing problems, or neurological problems if they extend into the brain. Tumors in the vagina may be visibly protruding from the opening of the vagina. Bladder and vaginal tumors may cause urinary or bowel obstruction. Tumors in the muscles may appear as a painful lump and are often thought to be an injury. However, they do not go away, but continue to grow, even though they may not continue to be painful. Diagnosis of rhabdomyosarcoma is often delayed because of lack of symptoms, and because the tumor may appear at the same time as a recent injury. Early diagnosis is important because rhabdomyosarcoma is an aggressive tumor that spreads quickly.

Treatment In general, surgery and radiation therapy are used to treat the primary site of the tumor, while chemotherapy is used to treat disease at all sites in the body. Chemotherapy is an essential part of treatment to prevent further spread of the cancer. Many different chemotherapy drugs are active against rhabdomyosarcoma. Some of these drugs include: Vincristine Actinomycin-D Cyclophosphamide (Cytoxan) Doxorubicin (Adriamycin) Melphalan Ifosfamide Etoposide Topotecan Tests & diagnosis Biopsy of the tumor CT scan of the chest to look for spread of the tumor CT scan of the tumor site Bone marrow biopsy (may show the cancer has spread) Bone scan to look for spread of the tumor MRI scan of the tumor site Possible spinal tap, to check for spread into the brain, depending on the site of the tumor Thorough physical exam Prognosis While aggressive treatment is usually necessary, most children with rhabdomyosarcoma will achieve long-term survival. Cure depends on the specific type of tumor, its location, and the amount that has spread.

Incidence Soft tissue sarcomas account for about seven to eight percent of childhood cancer cases. Rhabdomyosarcoma is the most common soft tissue tumor in children. The disease can occur throughout childhood and has been reported at birth. Influencing Factors Rhabdomyosarcoma occurs slightly more frequently in males than females. Whites appear to be affected slightly more often than blacks. About two-thirds of cases are diagnosed in children under six years of age. Survival Rates More than 70 percent of children with localized rhabdomyosarcoma enjoy long-term survival. Survival rates depend on initial tumor size, location, appearance under the microscope, how much of the tumor can be removed with surgery, and whether the disease has spread to other parts of the body. Treatment Strategies After a biopsy or removal of the tumor, all patients receive chemotherapy. Additional surgery and/or radiation therapy may be used in some cases.