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Clinical Problem Solving: Pathology |

Pathology Quiz Case 2: Diagnosis

Arch Otolaryngol Head Neck Surg. 2008;134(10):1118-1119. doi:10.1001/archotol.134.10.1118-b.
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Diagnosis: Alveolar rhabdomyosarcoma

Rhabdomyosarcomas comprise a group of malignant soft tissue neoplasms that share the histopathologic features of striated muscle morphogenesis.1It is a common misconception that all rhabdomyosarcomas arise from skeletal muscle; however, these tumors presumably arise from some type of mesenchymal stem cell or precursor and, as such, often arise in tissues that are devoid of striated muscle fibers. Although rhabdomyosarcomas have a very strong propensity for pediatric patients, a significant number of them have been reported in the adult population.2Approximately 40% of rhabdomyosarcomas occur in the head and neck; other common sites include the genitourinary tract, extremities, and trunk.3In the head and neck, rhabdomyosarcomas can occur in the orbit, oral cavity, pharynx, esophagus, neck, face, and parameningeal sites such as the paranasal sinuses, nasal cavity, middle ear, and mastoid. They may also rarely present as radiation-induced tumors years after radiotherapy. While most cases of rhabdomyosarcoma are sporadic, there are several associated familial cancer syndromes, including Li-Fraumeni syndrome (germline p53mutation),4neurofibromatosis type 1,5Costello syndrome (germline HRASmutations),6and Beckwith-Wiedemann syndrome (Wilms tumor, hepatoblastoma, and rhabdomyosarcoma).7

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