Background: Turner syndrome is characterized by complete or partial X-chromosome monosomy and has various clinical features, including horseshoe kidney. Leiomyosarcoma is an extremely rare tumor that accounts for only 0.1% of all invasive renal tumors.
Case presentation: A 50-year-old Japanese woman presented at a community hospital with a chief complaint of abdominal pain. Computed tomography revealed a horseshoe kidney with a hypovascular tumor (size, 9 × 7 cm) showing calcification in the upper pole of the right kidney. Open right heminephrectomy and division of the isthmus were performed. Histological examination revealed alternating fascicles of spindle cells with blunt ended non-tapering nuclei and eosinophilic cytoplasm. The tumor had high mitotic activity with a mitotic count of 8 mitoses/10 high-power fields. On the basis of these findings, we diagnosed the patient as having leiomyosarcoma.
Conclusion: Primary leiomyosarcoma of the horseshoe kidney in a patient with Turner syndrome is a very rare occurrence.