Ovarian high grade adenosarcoma with DICER1 mutations: a case report

Background: Ovarian sarcomas are uncommon. They often present with non-specific symptoms in advanced stages and carry a poor prognosis. Due to their rarity and heterogeneity, little is known regarding their behaviour and there are no definitive management guidelines. DICER1 mutations are an emerging finding in gynaecological sarcomas but have been rarely reported in ovarian adenosarcomas. Case: A 35-year-old woman presented with acute abdominal pain, fevers and abdominal distension. Following initial pursuit of an infectious cause she proceeded to diagnostic surgery and right salpingo-oophorectomy. Histopathology demonstrated a poorly differentiated high grade spindle cell sarcoma of the ovary with heterologous rhabdoid and chondroid differentiation, most in keeping with an adenosarcoma. Molecular testing identified DICER1 mutations. Following peritoneal recurrence she received palliative-intent chemotherapy with doxorubicin followed by maintenance cyclophosphamide. This was associated with a complete metabolic and radiologic response that was maintained for 14 months until a rapid, large volume recurrence. Conclusion: This is a unique case offering insight into the behaviour and diagnostic challenge of a rare tumour and its novel molecular finding.

Ovarian sarcoma; Adenosarcoma; DICER1; Spindle cell sarcoma

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