Renal medullary carcinoma and ABL gene amplification
Renal medullary carcinoma and ABL gene amplification
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DOI：
10.1097/01.ju.0000158448.56888.09
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发表时间：
2005-06-01
影响因子：
6.6
通讯作者：
Bergan, RC
中科院分区：
文献类型：
--
作者：
Simpson, L;He, X;Bergan, RC
目的：我们的特点是肾髓样癌（RMC）的临床过程中，并进行了扩展分析BCR-ABL.Materials和方法：文献检索所有报告的RMC。描述了西北大学的新病例，并提取了相关的临床信息。采用荧光原位杂交和免疫组化方法检测BCR、ABL基因和ABL蛋白。诊断时的平均年龄为19岁，男女比例为1.9：1.0，90%的患者为黑人，98%的患者至少有I型血红蛋白基因异常（即镰状细胞性状、SC病或镰状细胞病），平均生存期为19周。2例（3%）无转移患者为长期存活者。化疗反应差。1例沙利度胺治疗患者存活52周。在评价的所有3例病例中，ABL基因扩增了1.9 +/- 0.1倍的平均+/- SEM，而在评价的3例病例中有2例ABL蛋白增加。没有证据表明BCR-ABL易位detected.Conclusions：RMC是典型的年轻人与镰状细胞性状。当它转移时被诊断出来，对全身治疗没有反应，并迅速导致死亡。由于早期诊断似乎可以治愈，因此提高对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。ABL扩增在病因学和治疗靶点方面的作用有待进一步研究。
Purpose: We characterized the clinical course of renal medullary carcinoma (RMC) and performed an expanded analysis of BCR-ABL.Materials and Methods: 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.Results: 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 I 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.Conclusions: 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.