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Rhabdomyosarcoma masquerading as acute leukemia.

Yuichi Shinkoda1, Yoshihisa Nagatoshi, Reiji Fukano

  • 1Section of Pediatrics, National Kyushu Cancer Center, Fukuoka, Japan.

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Rarerhabdomyosarcoma (RMS) can mimic acute leukemia (AL). Immunohistochemistry is crucial for diagnosing RMS in bone marrow when flow cytometry shows unusual cell surface antigen results.

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Area of Science:

  • Oncology
  • Hematology
  • Pathology

Background:

  • Rhabdomyosarcoma (RMS) is a rare soft tissue sarcoma.
  • Acute leukemia (AL) is a hematological malignancy characterized by blast cells in the bone marrow.
  • Distinguishing RMS presenting as AL is diagnostically challenging.

Observation:

  • Three cases of rhabdomyosarcoma (RMS) mimicking acute leukemia (AL) were identified.
  • Patients presented with bone marrow infiltration by blast-like cells, lacking typical myeloid or lymphoid surface antigens.
  • No overt symptoms of solid tumors were present in these cases.

Findings:

  • Bone marrow analysis revealed approximately 95% abnormal blast-like cells.
  • Immunohistochemistry confirmed the expression of actin, desmin, and myoglobin, indicative of RMS.
  • Flow cytometry results showed an unusual immunophenotype, not fitting typical leukemia profiles.

Implications:

  • Immunohistochemistry is essential for accurate diagnosis of rhabdomyosarcoma in bone marrow.
  • This diagnostic approach is critical when flow cytometry presents atypical findings.
  • Early and accurate diagnosis of RMS presenting as AL improves patient management and outcomes.