Two Cases of Renal Cell Carcinoma Harboring a Novel STRN-ALK Fusion Gene
Two Cases of Renal Cell Carcinoma Harboring a Novel STRN-ALK Fusion Gene
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DOI：
10.1097/pas.0000000000000610
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发表时间：
2016-06-01
影响因子：
5.6
通讯作者：
Yano, Hirohisa
中科院分区：
文献类型：
--
作者：
Kusano, Hironori;Togashi, Yuki;Yano, Hirohisa
间变性淋巴瘤激酶（ALK）易位肾细胞癌（RCC）已报告了几个独立的小组在最近的时间。这些癌的临床表现和组织病理学特征还没有完全了解，因为很少的情况下报告。在这里，我们描述了2例肾细胞癌窝藏一种新的纹状体（STRN）-ALK融合。第一个病例是一名33岁的女性，没有镰状细胞特征，她因右肾肿块接受了肾切除术，并在初次手术后10年和12年两次在主动脉旁淋巴结中晚期复发。第二次复发后，她被仔细观察，没有任何治疗。在初次肾切除术后26年，进行了第二次主动脉旁淋巴结切除术，并对新发原发性胃癌进行了胃切除术。切除的主动脉旁淋巴结大部分被转移癌所取代。第二个病例是一名38岁的男性，没有镰状细胞特征，他接受了细胞减灭性肾切除术，随后接受舒尼替尼治疗转移性RCC。在这两种情况下，肿瘤显示实性，乳头状，管状和粘液筛状结构。间质内偶见沙瘤小体。肿瘤细胞有一个大的细胞核和突出的核仁，以嗜酸性细胞质为主。还观察到横纹肌样细胞和印戒细胞。证实了胞浆内粘蛋白沉积和背景粘液基质。在第二个病例中，在某些区域观察到肿瘤坏死。两例病例中肿瘤细胞均显示ALK弥漫阳性染色。通过荧光原位杂交证实了ALK易位，进一步的基因分析显示了STRN-ALK融合。这些病例为ALK易位RCC提供了很好的见解。
Anaplastic lymphoma kinase (ALK) translocation renal cell carcinomas (RCCs) have been reported by several independent groups in recent times. The clinical behavior and histopathologic characteristics of these carcinomas are not fully understood because of the paucity of cases reported. Here, we describe 2 cases of RCC harboring a novel striatin (STRN)-ALK fusion. The first case was a 33-year-old woman with no sickle cell trait who underwent nephrectomy for right renal mass and had late recurrence in para-aortic lymph nodes twice 10 and 12 years after initial surgery. After the second recurrence, she was carefully observed without any treatment. Twenty-six years after the initial nephrectomy, the second para-aortic lymphadenectomy was performed, and gastrectomy was performed for newly developed primary gastric cancer. The resected para-aortic lymph nodes were largely replaced by metastatic carcinoma. The second case was a 38-year-old man with no sickle cell trait who underwent cytoreductive nephrectomy followed by sunitinib therapy for metastatic RCC. In both cases, the tumor showed solid, papillary, tubular, and mucinous cribriform structures. Psammoma bodies were occasionally seen in the stroma. Tumor cells had a large nucleus and prominent nucleoli with predominantly eosinophilic cytoplasm. Rhabdoid cells and signet-ring cells were also observed. Intracytoplasmic mucin deposition and background mucinous stroma were confirmed. In the second case, tumor necrosis was seen in some areas. Tumor cells exhibited diffuse positive staining for ALK in both cases. ALK translocation was confirmed by fluorescent in situ hybridization, and further gene analysis revealed a STRN-ALK fusion. These cases provide great insights into ALK translocation RCCs.