Clinical characteristics of Xp11.2 translocation renal cell carcinoma

导言。据报道，Xp11.2易位肾细胞癌(RCC)在儿童中很常见，在成人中相对罕见。在这项多中心的回顾性研究中，我们的目标是研究日本成年患者Xp11.2易位RCC的特征。应用多克隆多肽抗体sc-5958对963例接受根治性肾切除或肿瘤活检的成年日本肾癌患者石蜡包埋标本进行TFE3免疫组织化学检测。TFE3免疫组织化学阳性患者经TFE3裂解荧光原位杂交(FISH)分析证实Xp11.2易位。分析Xp11.2易位肾癌的临床和病理特点。免疫组织化学分析发现29例患者标本(男17例，女12例)TFE3染色阳性(3.0%)。这些样本中有5个经FISH分析呈阳性。TFE3阳性患者的中位年龄为46岁(范围为22.73岁)。TH…肿瘤平均大小为7.1 cm。PT3或PT4期14例(48.3%)，N+和/或M+12例(41.4%)。平均随访期为32.5个月。2例肾切除术后发现新发转移灶。在14例转移性肿瘤患者中，分别有8例接受了细胞因子治疗，4例接受了酪氨酸激酶抑制剂(TKI)治疗，2例(50%)接受了TKI治疗，2例(100%)接受了免疫化疗，2例(100%)接受了细胞因子治疗。所有患者和转移患者的中位总生存期(OS)分别为34.9个月和22.0个月。结论。我们观察到Xp11.2易位RCC在日本成年患者中的发生率为3.0%，与先前报道的发生率相似。一半的患者在确诊时就表现为晚期疾病，而且预后似乎比透明细胞癌差。TKI或免疫化疗导致50%的患者出现OR，而细胞因子治疗无效。需要对这些肿瘤进行进一步的分子表征，以确定更有效的治疗方法。较少

Introduction. Xp11.2 translocation renal cell carcinomas (RCCs) have been reported to be common in children and relatively rare in adults. In this retrospective multicenter study, we aimed to characterize Xp11.2 translocation RCCs in adult Japanese patients.Methods. Immunohistochemical detection of TFE3 in paraffin-embedded samples obtained from 963 adult Japanese RCC patients, who had undergone radical nephrectomy or tumor biopsy, was performed using the polyclonal peptide antibody sc-5958. The Xp11.2 translocation was confirmed by TFE3 split fluorescence in situ hybridization (FISH) analysis in patients with positive TFE3 immunohistochemistry. Clinical and pathological characteristics of Xp11.2 translocation RCCs were analyzed.Results. Immunohistochemical analysis identified 29 patient samples (17 males and 12 females) positive for TFE3 (3.0%) staining. Five of these samples were positive by FISH analysis. The median age of TFE3-positive patients was 46 years (range, 22.73 years). Th … More e mean tumor size was 7.1 cm. Fourteen (48.3%) patients were classified as stage pT3 or pT4, and 12 patients (41.4%) diagnosed as N+ and/or M+. The mean follow-up period was 32.5 months. De novo metastatic lesions were found in 2 patients after nephrectomy. Among 14 patients with metastatic disease, cytokine therapy, tyrosine kinase inhibitors (TKI), or immunochemotherapy was administered to 8, 4, and 2 patients, respectively.Objective responses (OR) were achieved in 2 (50%) patients treated with TKI, 2 (100%) patients treated with immunochemotherapy, and none in patients treated with cytokines. The median overall survival (OS) of all patients and patients with metastatic disease were 34.9 months and 22.0 months, respectively. Conclusion. We observed a 3.0% incidence of Xp11.2 translocation RCCs in adult Japanese patients, which was similar to the rate reported previously. Half the patients presented with advance stage disease at diagnosis, and the prognosis seems to be worse than that for clear cell carcinoma. TKI or immunochemotherapy resulted in ORs in 50% of the patients, while cytokine therapy was ineffective. Further molecular characterization of these tumors is required to identify more efficacious treatment modalities. Less