Retroperitoneal primitive neuroectodermal tumor (PNET): case report and review of literature

Area of Science:

• Oncology
• Pathology
• Genetics

Background:

• Primitive Neuroectodermal Tumors (PNET) are part of the Ewing's sarcoma family.
• PNETs are characterized by specific chromosomal translocations, notably t(11;22).
• Retroperitoneal PNETs are exceptionally rare, typically affecting young adults and often presenting with late-stage diagnosis.

Observation:

• Imaging characteristics for retroperitoneal PNET are non-specific.
• Diagnosis relies on histological examination of surgical specimens or biopsies.
• A 26-year-old female presented with isolated pelvic discomfort.

Findings:

• Diagnostic laparoscopy revealed a 5 cm retroperitoneal and retrovesical mass.
• Histological confirmation established the diagnosis of PNET.
• The patient received adjuvant chemotherapy and radiotherapy.

Implications:

• The case highlights the importance of considering PNET in young adults with unexplained pelvic masses.
• Multimodal treatment including surgery, chemotherapy, and radiotherapy can be effective.
• The patient achieved disease-free status 30 months post-treatment, indicating potential for long-term survival.