Congenital Rapidly Progressive Perianal Embryonal Rhabdomyosarcoma With Spindle Cell Morphology: A Rare Presentation.
Vandna Yadav, Pradeep Gupta, Kiran Saini et al.
✦ AI-curated · Sources linked
Case in brief
A 2-day-old male infant presented with a painless perianal swelling that progressively enlarged over two months. MRI revealed a 4.7 × 2.7 × 2.5 cm heterogeneous mass in the perineum extending into the pelvis. Histopathology showed spindle and round cells with striations, and immunohistochemistry confirmed embryonal rhabdomyosarcoma with spindle cell morphology. The case emphasizes the importance of recognizing this rare presentation.
What made this case unusual
The perianal region is an uncommon site for rhabdomyosarcoma, representing about 2% of all tumors, making this case particularly noteworthy.
Diagnostic / clinical pearl
Clinicians should consider embryonal rhabdomyosarcoma in infants presenting with unusual perianal masses, utilizing immunohistochemical markers for accurate diagnosis.
Why it matters
This case highlights the necessity of awareness regarding atypical presentations of rhabdomyosarcoma, which can lead to timely and appropriate management.