Beckermann Kathryn E, Sharma Deva, Chaturvedi Shruti, Msaouel Pavlos, Abboud Miguel R, Allory Yves, Bourdeaut Franck, Calderaro Julien, de Cubas Aguirre A, Derebail Vimal K, Hong Andrew L, Naik Rakhi P, Malouf Gabriel G, Mullen Elizabeth A, Reuter Victor E, Roberts Charles W M, Walker Cheryl L, Wood Christopher G, DeBaun Michael R, Van Poppel Hendrik, Tannir Nizar M, Rathmell W Kimryn
Vanderbilt University Medical Center, Nashville; St Jude Children's Research Hospital, Memphis, TN; University of Texas MD Anderson Cancer Center; Baylor College of Medicine, Houston, TX; American University of Beirut Medical Center, Beirut, Lebanon; Université Paris-Est Créteil, Créteil; Institut Curie; University Pierre and Marie Curie, Paris, France; University of North Carolina at Chapel Hill, Chapel Hill, NC; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA; Johns Hopkins University, Baltimore, MD; Memorial Sloan Kettering Cancer Center, New York, NY; and University Hospitals Leuven, Leuven, Belgium.
J Oncol Pract. 2017 Jul;13(7):414-421. doi: 10.1200/JOP.2017.020909.
Although renal medullary carcinoma (RMC) is a rare subtype of kidney cancer, it is particularly devastating in that it is nearly uniformly lethal. No established guidelines exist for the diagnosis and management of RMC. In April 2016, a panel of experts developed clinical guidelines on the basis of a literature review and consensus statements. The goal was to propose recommendations for standardized diagnostic and management approaches and to establish an international clinical registry and biorepository for RMC. Published data are limited to case reports and small retrospective reviews. The RMC Working Group prepared recommendations to inform providers and patients faced with a low level of medical evidence. The diagnosis of RMC should be considered in all patients younger than 50 years with poorly differentiated carcinoma that arises from the renal medulla. These patients should be tested for sickle cell hemoglobinopathies, and if positive, SMARCB1/INI1 loss should be confirmed by immunohistochemistry. The majority of patients with RMC are diagnosed with metastatic disease. Upfront radical nephrectomy should be considered in patients with good performance status and low metastatic burden or after response to systemic therapy. Currently, cytotoxic, platinum-based chemotherapy provides the best, albeit brief, palliative clinical benefit. Vascular endothelial growth factor-directed therapies and mammalian target of rapamycin inhibitors are ineffective in RMC as monotherapy. Therapeutic trials of novel agents are now available for RMC, and every effort should be made to enroll patients in clinical studies.
尽管肾髓质癌（RMC）是一种罕见的肾癌亚型，但它具有极大的破坏性，因为其致死率几乎是百分之百。目前尚无针对RMC诊断和管理的既定指南。2016年4月，一个专家小组在文献综述和共识声明的基础上制定了临床指南。目标是提出标准化诊断和管理方法的建议，并建立一个RMC国际临床登记处和生物样本库。已发表的数据仅限于病例报告和小型回顾性研究。RMC工作组制定了相关建议，为面对低水平医学证据的医疗服务提供者和患者提供参考。所有50岁以下患有起源于肾髓质的低分化癌的患者都应考虑RMC的诊断。这些患者应进行镰状细胞血红蛋白病检测，如果结果呈阳性，应通过免疫组化确认SMARCB1/INI1缺失。大多数RMC患者被诊断为转移性疾病。对于身体状况良好、转移负担低的患者或在对全身治疗有反应后，应考虑进行 upfront根治性肾切除术。目前，细胞毒性铂类化疗虽然提供的姑息性临床益处有限，但却是最佳选择。血管内皮生长因子导向疗法和雷帕霉素靶蛋白抑制剂作为单一疗法对RMC无效。目前已有针对RMC的新型药物治疗试验，应尽一切努力让患者参加临床研究。
