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Abstract：
Seven cases of translocation-associated renal cell carcinoma involving ALK (ALK-tRCC) were referenced in the last World Health Organization\'s classification (2016), in a group of emerging/provisional RCC. The first three cases were pediatric, medullary-based, associated with sickle-cell trait and showed a fusion of ALK with VCL. Thirteen cases have been further described. They displayed clinical, morphological and genomic heterogeneity. Most of them occurred in adults. None of the patients was affected by sickle-cell disease. We report a new case of ALK-tRCC in a 55-year-old woman. Genomic profile showed losses of chromosomes 3, 9 and 14, anomalies often observed in clear cell RCC. VHL mutation or morphological features suggesting a clear cell RCC were not detected. We identified an unbalanced rearrangement of ALK and TPM3. Review of the literature identified similar features in our case and previously published cases: heterogeneous solid architecture, eosinophilic cells, mucinous cytoplasmic elements, rhabdoid cells and intracytoplasmic lumina. These elements may constitute the basis of a pathological definition of ALK-tRCC. Their observation in a RCC should lead to perform molecular detection of ALK rearrangement. This may have a crucial importance for metastatic patients treatment since ALK rearrangements confer sensitivity to tyrosine kinases inhibitors such as crizotinib.
摘要：
7例易位相关肾细胞癌累及ALK（ALK-tRCC）在上一次世界卫生组织（2016）的分类中被引用，在一组新兴/临时RCC中。前三例是儿科,基于髓质的，与镰状细胞性状相关，并显示ALK与VCL融合。进一步描述了13例。他们展示了临床，形态学和基因组异质性。大多数发生在成年人身上。没有患者受到镰状细胞疾病的影响。我们报告了一名55岁女性的ALK-tRCC新病例。基因组图谱显示3、9和14号染色体丢失，在透明细胞RCC中经常观察到异常。未检测到表明透明细胞RCC的VHL突变或形态特征。我们确定了ALK和TPM3的不平衡重排。文献综述在我们的案例和以前发表的案例中确定了相似的特征：异质固体架构，嗜酸性粒细胞,粘液质元素，横纹肌样细胞和胞浆内腔。这些元件可以构成ALK-tRCC的病理学定义的基础。他们在RCC中的观察应导致进行ALK重排的分子检测。这对于转移性患者治疗可能具有至关重要的意义,因为ALK重排赋予对酪氨酸激酶抑制剂如克唑替尼的敏感性。
