Embryonal rhabdomyosarcoma

Case contributed by Jeremy Jones
Diagnosis certain

Presentation

Presented with bilateral femoral nodes, weight loss and abnormal bowel habit. Right femoral excision biopsy without regional imaging.

Patient Data

Age: 15
Gender: Female
mri

Centered in the perineum, posterior to the anal canal is a large heterogeneous T2 hyperintense, enhancing mass with diffusion restriction. It has a fronded appearance, extends into the pelvis where there are multiple abnormal ileofemoral nodes bilaterally.

One of the right femoral nodes has been excised.

Much to the surprise of the surgeon, the biopsy confirmed embryonal rhabdomyosarcoma. Metastatic disease hadn't been considered and further investigation was ordered.

Further clinical history elicited a story of altered bowel habit.

After chemotherapy

mri

Following chemotherapy there has been almost complete anatomical response with residual inflammatory change, but no mass.

Case Discussion

This large perianal mass was confirmed to be embryonal rhabdomyosarcoma at biopsy and chemotherapy was commenced. The rapid improvement in appearances followed 4 cycles of chemotherapy.

Anatomical and metablolic response were confirmed after the final courses of chemotherapy.

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