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Rhabdomyosarcoma

A rhabdomyosarcoma is a type of cancer, specifically a sarcoma (cancer of connective tissues), in which the cancer cells arise from skeletal muscle. It can also be found attached to muscle tissue, wrapped around intestines, or anywhere, to include the neck area. more...

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It is most common in children ages one to five, and teens aged 15 to 19, although quite rare in the latter.

It can be a cardiac manifestation of tuberous sclerosis.

Diagnosis

When rhabdomyosarcoma is suspected, tests will be run for blood, muscle, and marrow.

Diagnosis of rhabdomyosarcoma depends on recognition of differentiation toward skeletal muscle cells. The protein myo D1 is a protein normally found in developing skeletal muscle cells which disappears after the muscle matures and becomes innervated by a nerve. Thus, myo D1 is not found in normal skeletal muscle and serves as a useful histochemical marker of rhabdomyosarcoma.

Treatment

Treatment for rhabdomyosarcoma consists of chemotherapy and radiation therapy. The prognosis is good for any patients being as the cancer generally responds very well to chemotherapy. Some cases show a 75 percent reduction after the first and second rounds of chemotherapy. Some patients have shown a 90% decrease in the size of their tumors within a few months after chemotherapy. Usually surgery is required after chemotherapy to remove existing cancer, although some cases have shown the disease to be so reduced that no surgery is necessary following chemotherapy.

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Embryonal rhabdomyosarcoma of the ear
From Ear, Nose & Throat Journal, 5/1/04 by Nathan B. Sautter

Rhabdomyosarcoma is the most common soft-tissue malignancy in the pediatric population. It is generally classified into embryonal, alveolar, pleomorphic, and mixed histologic subtypes. Embryonal rhabdomyosarcoma is the most common histologic variant seen in childhood; a large proportion of them arise in the head and neck-most commonly in the orbit, the nasopharynx, and the ear.

Rhabdomyosarcoma of the middle ear and mastoid is the most common malignant aural neoplasm in the pediatric population, although it accounts for less than 10% of all cases of head and neck rhabdomyosarcoma. Symptoms (unilateral refractory otitis media, serosanguineous discharge, otalgia, hearing loss, and neurologic symptoms) are generally nonspecific, which can lead to a delay in diagnosis. A polypoid mass is frequently seen on examination, and it may be mistaken for an aural polyp. Because rhabdomyosarcoma of the ear is easily misdiagnosed, advanced disease with meningeal involvement is common at the time of diagnosis.

Microscopically, the surface epithelium is usually intact and separated from the neoplastic proliferation (figure 1). Embryonal rhabdomyosarcoma is made up of round to spindled cells. The appearance of the round cells is similar to that of lymphocytes, with hyperchromatic, irregular nuclei surrounded by scant, elongated eosinophilic cytoplasm. These cells imperceptibly blend with spindled cells, which are characterized by a spindled morphology, eosinophilic cytoplasm, and an elongated central hyper chromatic nucleus. Cross striations are difficult to identify, but they are rarely present. These cells are surrounded by a loose myxoid to dense collagenous stroma. Periodic acid-Schiff and a variety of immunohistochemical stains (smooth-muscle actin, desmin [figure 2], MyoD1, and myogenin) may help confirm the diagnosis.

Treatment is based on staging criteria developed by those involved in the Intergroup Rhabdomyosarcoma Studies. The multimodal approach includes wide local excision, radiation therapy, and multiagent chemotherapy. Prognosis for ear rhabdomyosarcoma is good (70% cure rates) and is related to the patient's age, tumor stage, and histologic subtype.