Diagnostic evaluation of metastatic rhabdomyosarcoma in effusion specimens

Abstract

Sarcomas, including rhabdomyosarcoma (RMS), are rarely encountered in effusion specimens; therefore, difficulties in the accurate diagnosis of metastatic sarcomas in effusions can occasionally arise. Immunohistochemistry for myogenin has emerged as a useful adjunct in the diagnosis of RMS, especially in small biopsy specimens. To date, there are no published series describing the utility of immunocytochemistry for myogenin in the diagnosis of RMS in effusion specimens. A total of 15 patients, for whom metastatic sarcomas were diagnosed in effusion specimens between 1998 and 2012, were identified for analysis: alveolar RMS (n = 5); embryonal RMS (n = 1); pleomorphic RMS (n = 1); angiosarcoma (n = 1); Ewing's sarcoma (n = 2); osteosarcoma (n = 1); endometrial stromal sarcoma (n = 1); unclassified spindle cell sarcoma (n = 1); unclassified/undifferentiated pleomorphic sarcoma (n = 1); and leiomyosarcoma (n = 1). Immunocytochemistry for myogenin was performed for each of these cases as well as for 102 effusions that were positive for metastatic carcinoma. Immunocytochemistry for myogenin diffusely and strongly highlighted the nuclei of the tumor cells in six (86%) of seven cases of metastatic RMS; specifically, the five alveolar RMS and one embryonal RMS cases. The one case of pleomorphic RMS, the eight remaining metastatic sarcoma cases, and all 102 cases of metastatic carcinoma were completely negative for myogenin expression. In conclusion, immunocytochemistry for myogenin is a sensitive and specific ancillary adjunct in the diagnostic evaluation of metastatic RMS in effusion specimens.