肉瘤样肾细胞癌伴不常见的小肠转移，表现为穿孔性阑尾炎。

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

机构信息

Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY, U.S.A.

出版信息

In Vivo. 2019 Nov-Dec;33(6):2225-2228. doi: 10.21873/invivo.11726.

DOI:10.21873/invivo.11726

PMID:31662560

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6899143/

Abstract

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.

摘要

背景

肉瘤样肾细胞癌是一种罕见的去分化癌，具有较高的转移率和不良预后。常见的转移部位包括淋巴结、肺、肝和骨。我们报告一例 65 岁女性的肉瘤样肾细胞癌病例，该患者既往有透明细胞肾细胞癌伴局灶性肉瘤样转化病史，其转移至小肠的情况不同寻常。

病例报告

患者因腹痛加重就诊于急诊科。影像学检查显示急性阑尾炎穿孔，但诊断性腹腔镜检查未发现阑尾炎的证据，仅在小肠有一处小的点状穿孔。小肠大体检查显示穿孔部位有 2 厘米大小的棕白色小叶状硬病灶，累及全层壁。组织学检查显示高级别梭形细胞肿瘤，核深染，多形性，有频繁的有丝分裂象和坏死。免疫组织化学检查显示，肿瘤细胞 CD10 和碳酸酐酶 9 阳性，但细胞角蛋白、上皮膜抗原、配对盒基因 8、肾细胞癌、结蛋白、平滑肌肌动蛋白、c-KIT、胃肠道间质肿瘤蛋白 1、CD34 和 S100 阴性。分子研究显示肿瘤细胞微卫星稳定，但存在多溴 1、端粒酶逆转录酶和 von Hippel-Lindau 基因突变，支持其为肾细胞癌。患者接受了放疗，但不幸的是，由于疾病迅速进展，一个月后死亡。