Rhabdomyosarcoma (RMS) is a rare, malignant tumor that arises from immature skeletal muscle cells, most commonly affecting children and adolescents. It can occur in various locations, including the head and neck, genitourinary tract, and extremities. RMS is classified into subtypes—embryonal, alveolar, pleomorphic, and spindle cell/sclerosing—based on histological features, with embryonal being the most common in children. Clinical presentation depends on the tumor’s location and may include a painless mass, swelling, obstruction, or functional impairment of nearby organs. Diagnosis relies on imaging studies (MRI, CT), biopsy, and histopathological examination, often supplemented by immunohistochemistry to confirm muscle lineage. Treatment is multimodal, typically combining surgery, chemotherapy, and sometimes radiotherapy, with prognosis influenced by tumor size, location, histologic subtype, and metastasis at diagnosis.
- Most common soft tissue sarcoma in children
- 3% to 4% of all cases of childhood cancer
- More common in males and Caucasians
- Two-thirds of cases occur in patients under the age of 10 years
- Median age at diagnosis of 5 years
- Germ-line P53 mutations
- Costello syndrome
- Beckwith-Wiedemann syndrome
- Neurofibromatosis type I
- Germ-line DICER1 mutations
- Parental use of cocaine and marijuana
- Birthing order and accelerated in utero growth
Site of involvement
- Head and neck (including the orbit and parameningeal areas [35%])
- Genitourinary tract (including the bladder, prostate, vagina, vulva, uterus, and paratesticular area [26%]), and
- Extremities (19%)
- 20% of children present with disseminated disease - commonly involves the lung
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