Transdifferentiation of pancreatic stromal tumor into leiomyosarcoma with metastases to liver and peritoneum: a case report

BACKGROUND: Primary pancreatic leiomyosarcoma is a rare pancreatic malignancy; the clinical presentation and treatment is not well-characterized. Further, the molecular mechanisms underlying its pathogenesis are not known. We report a patient with pancreatic stromal tumor that progressed to primary pancreatic leiomyosarcoma with hepatic and peritoneal metastases. CASE PRESENTATION: A 54-year-old woman was found to have pancreatic and hepatic tumor masses on routine health checkup. Owing to the difficulty in performing biopsy, this patient underwent open operation. Histopathological examination of pancreatic and liver biopsy specimen demonstrated spindle cells with nuclear mitoses. Immunohistochemical examination showed positive staining for Cluster of Differentiation117 (+) and negative staining for S-100 (-) and Smooth Muscle Actin (-). Thus, the patient was diagnosed as a case of advanced pancreatic stromal tumor with liver metastases. After surgery, treatment with oral imatinib mesylate combined with thymosin injection therapy was prescribed. Follow-up examination at 13-months revealed multiple nodular masses in liver and right peritoneum. The patient underwent a second surgery. Liver biopsy and the resected peritoneal specimen showed positive staining for Discovered On Gastrointestinal tumor-1(weak +), Actin (+), Smooth Muscle Actin (+) and negative staining for Cluster of Differentiation117 (-) Cluster of Differentiation34 (-) and S-100 (-). Histopathological examination showed spindle cells with nuclear mitoses. The final diagnosis was primary pancreatic leiomyosarcoma, transdifferentiating from pancreatic stromal tumor, with liver and peritoneal metastases. CONCLUSIONS: Surgery is the first line treatment for primary pancreatic leiomyosarcoma and extra-gastrointestinal stromal tumors. In the present case, radical resection was not performed owing to hepatic metastases. Palliative treatment with radioactive (125)I ion implantation and microwave coagulation therapy was administered. However, the long-term therapeutic effect needs to be assessed in future. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s12885-016-2976-8) contains supplementary material, which is available to authorized users.