Paratesticular Endometrial Stromal Sarcoma-Like Sarcoma With EPC1-SUZ12 Fusion

Area of Science:

• Oncology
• Genetics
• Pathology

Background:

• Endometrial stromal sarcoma-like (ESS-like) tumors are rare Mullerian analog neoplasms.
• These tumors typically occur in the paratesticular or pelvic regions in males.
• ESS-like tumors often share molecular fusion events with uterine endometrial stromal sarcoma (ESS).

Observation:

• A case report of an 85-year-old male with paratesticular soft tissue ESS-like sarcoma is presented.
• The tumor harbored the EPC1-SUZ12 t(10;17)(p11.22;q12) molecular fusion.
• This specific fusion was previously associated with aggressive high-grade uterine ESS.

Findings:

• The patient's ESS-like sarcoma with the EPC1-SUZ12 fusion did not exhibit metastatic disease.
• Absence of metastatic disease was noted pre-operatively and during short-term follow-up post-resection.
• This contrasts with the aggressive clinical course reported for a similar fusion in uterine ESS.

Implications:

• This case expands the understanding of ESS-like sarcoma molecular landscape in males.
• The EPC1-SUZ12 fusion may not invariably predict an aggressive clinical course in paratesticular ESS-like sarcomas.
• Further research is needed to clarify the prognostic significance of specific molecular fusions in these rare tumors.