Rhabdomyosarcoma Confined to the Bone Marrow: A Case Report and Literature Review

Area of Science:

• Oncology
• Hematology
• Pathology

Background:

• Rhabdomyosarcoma (RMS) confined to bone marrow is exceptionally rare and aggressive.
• It often mimics primary hematological malignancies, causing diagnostic delays.

Purpose of the Study:

• To report a case of bone marrow-confined alveolar RMS with PAX3/FOXO1 rearrangement.
• To review literature on diagnostic challenges and treatment strategies for this rare entity.

Main Methods:

• Comprehensive diagnostic work-up including immunohistochemistry and molecular studies.
• Literature review on bone-marrow-confined RMS.
• Treatment with intensive multi-agent chemotherapy.

Main Results:

• Diagnosis of PAX3/FOXO1 gene-rearranged alveolar RMS isolated in the bone marrow confirmed.
• Patient achieved hematological recovery and radiological improvement with chemotherapy.
• Literature review highlighted diagnostic pitfalls and treatment variability.

Conclusions:

• RMS confined to bone marrow presents diagnostic challenges due to atypical presentation.
• Intensive chemotherapy may be effective for this aggressive entity.
• Standardized management guidelines are lacking for bone-marrow-confined RMS.