Understanding proximal-type epithelioid sarcoma (PES) of the vulva is crucial, as it is a rare and aggressive malignancy. This article highlights a case involving a 41-year-old woman diagnosed with PES, characterized by notable complexities in treatment and management.
Case Presentation
A 41-year-old female presented with a painless, mobile mass in the right labia majora. The mass measured approximately 5 x 3 cm and had been observed for nine months. Initially mistaken for a benign lesion, its insidious growth delayed proper diagnosis.
Imaging and Diagnosis
Imaging techniques, including MRI and PET/CT, revealed a well-circumscribed 3.7-cm subcutaneous mass. Histopathological and immunohistochemical analyses confirmed the diagnosis of PES, with the loss of the SMARCB1 gene reported as significant in this case.
Treatment and Surgical Interventions
- Initial treatment involved a wide local excision (WLE) on July 27, 2022.
- Histopathological examination confirmed PES, with the tumor measuring 5.9 cm at its largest dimension.
- Due to focal positive margins, further interventions included right superficial inguinal lymphadenectomy and a re-excision on September 12, 2022.
- Post-surgery, histopathological evaluations of lymph nodes indicated no malignancy.
Adjuvant Radiotherapy
Adjuvant radiotherapy was initiated to address potential residual malignancy. The treatment aimed for a total dose of 60 Gy over 30 fractions but was halted at 46 Gy due to severe skin reactions and wound dehiscence. Daily imaging using cone beam CT (CBCT) guided treatment positioning, reinforcing the need for careful planning in radiation therapy.
Follow-Up and Recovery
Follow-up PET/CT scans raised concerns of possible recurrence, but subsequent evaluations, including fine-needle aspiration, confirmed non-malignant findings. At the two-year post-treatment mark, the patient remained asymptomatic, with no signs of disease recurrence observed.
Discussion
This case underscores the significance of a multidisciplinary approach in managing PES. With its aggressive nature, timely diagnosis, and treatment are imperative. The importance of the SMARCB1 loss as both a diagnostic and therapeutic target cannot be overstated, given its role in pathogenesis and patient outcomes.
Challenges and Future Directions
The patient experienced considerable treatment-related adverse effects, including severe skin toxicity. These complications highlight the necessity for individualized therapies and ongoing research into optimal management strategies for PES.
Future studies should focus on enhancing diagnostic precision and exploring targeted therapies, particularly those addressing the loss of SMARCB1. Collaborative efforts in research may help standardize treatment protocols and improve overall outcomes for patients with this rare malignancy.
This case contributes valuable insights into the management of proximal-type epithelioid sarcoma of the vulva and emphasizes the need for further exploration in treatment methodologies within this challenging clinical area.
