Sarcomatoid Renal Cell Carcinoma With Unusual Metastasis to the Small Intestine Manifesting as Perforated Appendicitis

Background: Sarcomatoid renal cell carcinoma is a rare form of dedifferentiated carcinoma with a high metastatic rate and adverse prognosis. Common sites of metastasis include lymph nodes, lung, liver and bone. We report a case of sarcomatoid renal cell carcinoma with unusual metastasis to the small intestine in a 65-year-old female with a history of clear-cell renal cell carcinoma with focal sarcomatoid transformation. Case Report: The patient presented to the Emergency Department with worsening abdominal pain. Imaging showed perforated acute appendicitis, however, diagnostic laparoscopy found no evidence of appendicitis, but a small punctate perforation in the small intestine. Gross examination of the small intestine showed a 2 cm tan-white lobular firm lesion at the perforation site involving the full thickness of the wall. Histological examination revealed a high-grade spindle-cell neoplasm with hyperchromatic and pleomorphic nuclei, frequent mitotic figures, and necrosis. Immunohistochemically, the tumor cells were positive for CD10 and carbonic anhydrase 9, but negative for pan-cytokeratin, epithelial membrane antigen, paired box gene 8, renal cell carcinoma, desmin, smooth-muscle actin, c-KIT, discovered on gastrointestinal stromal tumor protein 1, CD34, and S100. Molecular studies showed that the tumor cells were microsatellite stable but harbored mutations in polybromo-1, telomerase reverse transcriptase, and von Hippel-Lindau genes, supporting renal cell carcinoma in nature. The patient received radiation therapy but unfortunately died after one month due to rapid disease progression. Conclusion: This was a rare and challenging case of sarcomatoid renal cell carcinoma metastasis to the small intestine with loss of some renal cell carcinoma markers, reinforcing the aggressive nature of this entity and the importance of correlating findings with the prior history for reaching correct diagnosis.