Institute of Pathology, Faculty of Medicine, University of Ljubljana, Korytkova 2, 1000, Ljubljana, Slovenia.
Department of Abdominal Surgery, University Medical Center Ljubljana, Zaloška cesta 7, 1000, Ljubljana, Slovenia.
Virchows Arch. 2020 May;476(5):783-786. doi: 10.1007/s00428-019-02703-9. Epub 2019 Nov 16.
Sarcomatoid renal cell carcinoma is a highly aggressive form of carcinoma, histologically showing both carcinomatous and mesenchymal component in different proportions. We present a case of advanced type 1 papillary sarcomatoid renal cell carcinoma infiltrating adjacent organs and showing positivity for MDM2 by immunohistochemistry and MDM2 amplification by fluorescence in situ hybridization. This finding, together with sarcomatoid morphology, poses a potential pitfall for diagnosis with dedifferentiated liposarcoma. MDM2 is known to be altered in various human sarcomas. Only recently, MDM2 alterations have been reported in carcinomas. The presented case illustrates the need of thorough sampling with clinic-pathological correlation before making a final diagnosis in sarcomatoid retroperitoneal tumours. Additionally, the potential clinical implications of MDM2 amplification in renal cell carcinoma are discussed.
肉瘤样肾细胞癌是一种高度侵袭性的癌，组织学上表现为不同比例的癌性和间叶性成分。我们报告了一例晚期 1 型乳头状肉瘤样肾细胞癌浸润邻近器官，并通过免疫组织化学显示 MDM2 阳性，荧光原位杂交显示 MDM2 扩增。这一发现，加上肉瘤样形态，可能会对诊断为去分化脂肪肉瘤造成潜在的陷阱。MDM2 在各种人类肉瘤中都有改变。直到最近，MDM2 的改变才在癌中被报道。所报告的病例说明了在做出肉瘤样腹膜后肿瘤的最终诊断之前，需要进行彻底的取样，并结合临床病理相关性。此外，还讨论了 MDM2 扩增在肾细胞癌中的潜在临床意义。
