CASE REPORTPrimary Cutaneous Epidermotropic Alveolar Rhabdomyosarcoma With t(2;13) in an Elderly Woman Case Report and Review of the LiteratureSetterfield, J.; Sciot, R.; Debiec-Rychter, M.; Robson, A.; Calonje, E.Author Information From the Department of Dermatopathology (J.S., A.R., E.C.), St. John's Institute of Dermatology, St. Thomas' Hospital, London, U.K., and the Department of Pathology (R.S.) and Center of Human Genetics (M.D.-R.), University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium. Address correspondence and reprint requests to E. Calonje, MD, DipRCPath, St. John's Institute of Dermatology, St. Thomas' Hospital, London SE1 7EH, U.K.; e-mail: [email protected] The American Journal of Surgical Pathology: July 2002 - Volume 26 - Issue 7 - p 938-944 Buy Abstract We report a case of a primary cutaneous alveolar rhabdomyosarcoma presenting on the lower limb of a 60-year old woman. The tumor was characterized by aggregates of round blue cells in an alveolar growth pattern in the dermis and subcutis, with the additional unique finding of epidermotropism. By immunohistochemistry tumor cells were positive for vimentin, muscle-specific actin, desmin, myogenin, and Myo-D1 with focal positivity for CD56, neuron-specific enolase, and S-100 protein. Staining for pan-keratin, HMB-45, melan-A, epithelial membrane antigen, chromogranin, CD99, leukocyte common antigen, and alpha-smooth muscle actin was negative. Interphase fluorescence in situ hybridization analysis from paraffin-embedded tumor demonstrated the presence of the translocation (2;13)(q35;q14) confirming the diagnosis. Further investigations revealed no tumor in the underlying deep soft tissues, and there was no evidence of metastasis in other organs. A local recurrence associated with a metastasis to a regional lymph node on the right groin was treated with an above-knee amputation and local radiotherapy to the groin area. The patient subsequently developed cutaneous metastases in the amputation stump and died 2 years after initial presentation. This case indicates that rhabdomyosarcoma may rarely present in the skin in adults and should be included in the differential diagnosis of primary cutaneous small round blue cell tumors not only in children but also in this age group. © 2002 Lippincott Williams & Wilkins, Inc.