Some rare malignant diseases exhibit clinical features and bone marrow aspirate morphology similar to that of acute leukemia. For instance, rhabdomyosarcoma, neuroblastoma, medulloblastoma, anaplastic oligodendroglioma, small cell carcinoma, Ewing’s sarcoma and neuroendocrine tumors have been reported to display an acute leukemia-like morphology in bone marrow aspirates after metastasizing to the bone marrow. Rhabdomyosarcoma (RMS), a malignant tumour of mesenchymal origin which can occur at various sites in the body, is one of the most common soft tissue sarcomas in both children and adolescents, but is rare in adults with a prevalence of less than 1 %. Bone marrow metastases associated with this condition may be readily confused with acute leukemia or lymphoma. Diagnostic confirmation requires immunohistochemical and flowcytometric examinations. In patients with positive CD56 and negative CD45, rhabdomyosarcoma should be included in the differential diagnosis. Here, we report an unusual case of RMS confined to the bone marrow in an older adult.
___
Weiss AR, Lyden ER, Anderson JR, et al. Histologic and clinical characteristics can guide staging evaluations for children and adolescents with rhabdomyosarcoma: a report from the Children’s Oncology Group Soft Tissue Sarcoma Committee. J Clin Oncol. 2013;31:3226-32.
Kahn DG. Rhabdomyosarcoma mimicking acute leukemia in an adult: report of a case with histologic, flow cytometric, cytogenetic, immunohistochemical, and ultrastructural studies. Arch Pathol Lab Med. 1998;122:375-8.
Sandberg AA, Stone JF, Czarnecki L, Cohen JD: Hematologic masquerade of rhabdomyosarcoma. Am J Hematol. 2001;68:51-7.
Maywald O, Metzgeroth G, Schoch C, et al. Alveolar rhabdomyosarcoma with bone marrow infiltration mimicking haematological neoplasia. Br J Haematol. 2002;119:583.
Lou Y, Meng H, Mao L, et al. Bone marrow relapse of medulloblastoma mimicking acute leukemia with translocation (1;18)(p33;q22). J Clin Oncol. 2011;29:e24-6.
Anand M, Kumar R, Jain P, et al. Metastatic anaplastic oligodendroglioma simulating acute leukemia. A case report. Acta Cytol. 2003;47:467-9.
Enzinger FM, Shiraki M. Alveolar rhabdomyosarcoma. An analysis of 110 cases. Cancer. 1969;24:18-31.
Bozzi F, Collini P, Aiello A, et al. Flow cytometric phenotype of rhabdomyosarcoma bone marrow metastatic cells and its implication in differential diagnosis with neuroblastoma. Anticancer Res. 2008;28:1565-9.
Ferreira-Facio CS, Milito C, Botafogo V, et al. Contribution of multiparameter flow cytometry immunophenotyping to the diagnostic screening and classification of pediatric cancer. PLoS One. 2013;8:e55534.
Sethuraman C, Simmerson M, Vora AJ, et al. Flowcytometric immunophenotyping in the diagnosis of pediatric lymphoma: how reliable is it and how can we optimize its use? J Pediatr Hematol Oncol. 2010;32:298303.
Swerts K, De Moerloose B, Dhooge C, et al. Detection of residual neuroblastoma cells in bone marrow: comparison of flow cytometry with immunocytochemistry. Cytometry B Clin Cytom. 2004;61:9-19.
Matthay KK, George RE, Yu AL. Promising therapeutic targets in neuroblastoma. Clin Cancer Res. 2012;18:2740-53.
Shen H, Tang Y, Xu X, et al. Detection of the GD2+/CD56+/CD45- immunophenotype by flow cytometry in cerebrospinal fluids from a patient with retinoblastoma. Pediatr Hematol Oncol. 2013;30:30-2.
Bahrami A, Gown AM, Baird GS, et al. Aberrant expression of epithelial and neuroendocrine markers in alveolar rhabdomyosarcoma: a potentially serious diagnostic pitfall. Mod Pathol. 2008;21:795-806.
Farinola MA, Weir EG, Ali SZ. CD56 expression of neuroendocrine neoplasms on immunophenotyping by flow cytometry: a novel diagnostic approach to fine-needle aspiration biopsy. Cancer. 2003;99:240-6.
Dias P, Chen B, Dilday B, et al. Strong immunostaining for myogenin in rhabdomyosarcoma is significantly associated with tumors of the alveolar subclass. Am J Pathol. 2000;156:399-408.
Heerema-McKenney A, Wijnaendts LC, Pulliam JF, et al. Diffuse myogenin expression by immunohistochemistry is an independent marker of poor survival in pediatric rhabdomyosarcoma: a tissue microarray study of 71 primary tumors including correlation with molecular phenotype. Am J Surg Pathol. 2008;32:1513-22.