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Abstract
Alveolar rhabdomyosarcoma is one of the common subtypes of rhabdomyosarcoma with a poor prognosis. It usually occurs in early adolescents with predilection for the deep muscles of the trunk and extremities. Its distinct histological features and molecular biology characteristics are important to distinguish it from other similar entities including embryonal rhabdomyosarcoma. We report a case of an 18-year-old female with metastatic alveolar rhabdomyosarcoma to the breast. Gene sequencing revealed a TP53 gene mutation in exon 4 and the patient was tested negative for a germline mutation. Several alveolar rhabdomyosarcoma cases with metastasis to the breast have been reported in a similar patient population. Therefore, we believe that breast examination and imaging study should be part of routine follow-up in adolescent female patients with alveolar rhabdomyosarcoma. Finally, this case allows us to review the multimodal techniques to diagnose alveolar rhabdomyosarcoma with an emphasis on molecular analysis.
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