Simpson Lijo, He Xiang, Pins Michael, Huang Xiaoke, Campbell Steven C, Yang Ximing J, Perlman Elizabeth J, Bergan Raymond C
Department of Medicine, Illinois Masonic Medical Center, Maywood, Illinois, USA.
J Urol. 2005 Jun;173(6):1883-8. doi: 10.1097/01.ju.0000158448.56888.09.
We characterized the clinical course of renal medullary carcinoma (RMC) and performed an expanded analysis of BCR-ABL.
The literature was searched for all reports of RMC. New cases at Northwestern University are described and relevant clinical information was abstracted. BCR and ABL genes, and ABL protein were evaluated by fluorescence in situ hybridization and immunohistochemical analysis, respectively.
A total of 95 cases were identified. Mean age at diagnosis was 19 years, the male-to-female ratio was 1.9:1.0, 90% of all patients were black, 98% had an abnormality in a least 1 hemoglobin gene (ie sickle cell trait, SC disease or sickle cell disease) and mean survival was 19 weeks. Two patients (3%) without metastasis were long-term survivors. The response to chemotherapy was poor. One patient treated with thalidomide survived for 52 weeks. The ABL gene was amplified a mean +/- SEM of 1.9 +/- 0.1-fold in all 3 cases evaluated, while ABL protein was increased in 2 of 3 evaluated. No evidence of BCR-ABL translocation was detected.
RMC is typically seen in young individuals with the sickle cell trait. It is diagnosed when metastatic, is not responsive to systemic therapy and rapidly causes death. Because cure appears possible with early diagnosis, increased awareness of the disease could make an impact. The use of thalidomide or newer anti-angiogenesis agents should be considered for advanced disease. The role of ABL amplification with respect to etiology and as a therapeutic target should be investigated further.
我们对肾髓质癌（RMC）的临床病程进行了特征描述，并对BCR-ABL进行了扩展分析。
检索了所有关于RMC的报道。描述了西北大学的新病例并提取了相关临床信息。分别通过荧光原位杂交和免疫组化分析评估BCR和ABL基因以及ABL蛋白。
共识别出95例病例。诊断时的平均年龄为19岁，男女比例为1.9:1.0，所有患者中有90%为黑人，98%至少有1个血红蛋白基因异常（即镰状细胞性状、SC病或镰状细胞病），平均生存期为19周。两名无转移的患者（3%）为长期存活者。化疗反应较差。一名接受沙利度胺治疗的患者存活了52周。在所有评估的3例病例中，ABL基因平均扩增倍数为1.9±0.1倍，而在评估的3例中有2例ABL蛋白增加。未检测到BCR-ABL易位的证据。
RMC通常见于具有镰状细胞性状的年轻人。在出现转移时被诊断，对全身治疗无反应并迅速导致死亡。由于早期诊断可能治愈，提高对该疾病的认识可能会产生影响。对于晚期疾病应考虑使用沙利度胺或更新的抗血管生成药物。应进一步研究ABL扩增在病因学方面的作用以及作为治疗靶点的作用。
