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[肾嗜酸性空泡状肿瘤:临床病理及分子特征]

[Eosinophilic vacuolated tumor of the kidney: clinicopathological and molecular characteristics].

作者信息

Zhang H Z, Xia Q Y, Yin X G, Wang S Y

机构信息

Department of Pathology, Ningbo Diagnostic Pathology Center, Ningbo 315000, China.

Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing 210002, China.

出版信息

Zhonghua Bing Li Xue Za Zhi. 2022 May 8;51(5):437-443. doi: 10.3760/cma.j.cn112151-20210908-00660.

Abstract

To study the clinicopathological features, immunophenotype, molecular changes, differential diagnosis and prognosis of eosinophilic vacuolated tumor (EVT) of the kidney. Four cases were collected retrospectively from 2014 to 2020 at Ningbo Diagnostic Pathology Center. The clinicopathologic features and immunophenotypic profile were studied by light microscopy and immunohistochemistry. Targeted next-generation sequencing (NGS) panel was used to detect cancer-associated mutation. Follow-up and literature review were also performed. Among the 4 patients studied,2 were males and 2 were females. The age of the patients ranged from 44 to 63 years (the mean age: 51 years).Tumor size ranged from 1.5 to 4.2 cm (mean: 2.3 cm). Microscopically, tumors were well-circumscribed, unencapsulated. Thick-walled vessels and entrapped renal tubules were found within or at the periphery of the tumors. The tumors were predominantly composed of nest pattern, and focal tubular pattern. The tumor cells exhibited abundant, eosinophilic, granular cytoplasm and conspicuous, large nucleoli. Prominent intracytoplasmic vacuoles were seen. These cytoplasmic vacuoles varied in size and frequently coalesced into a large space. Loose fibromatous or hyaline stroma was focally noted. Immunohistochemically, the tumor cells in all cases exhibited a CD117+/CK7-phenotype. All cases were positive for CD10 and p504s. MTOR, S6 and cathepsin K were positive in 4 cases. TFE3, CA9, Melan A and HMB45 were negative in all cases. SDHB retained expression. NGS demonstrated MTOR mutations in all cases, and TSC2 mutation in 2 cases. EVT is a rarely oncocytic renal tumor with unique morphology, immunohistochemical phenotype, molecular profile and an indolent behavior. Recognition of the characteristics of this novel but rare entity will allow for better classification of renal tumors.

摘要

研究肾嗜酸性空泡状肿瘤(EVT)的临床病理特征、免疫表型、分子改变、鉴别诊断及预后。回顾性收集2014年至2020年宁波诊断病理中心的4例病例。通过光学显微镜和免疫组织化学研究临床病理特征及免疫表型。采用靶向二代测序(NGS)检测癌症相关突变。同时进行随访及文献复习。在研究的4例患者中,男性2例,女性2例。患者年龄44至63岁(平均年龄:51岁)。肿瘤大小1.5至4.2厘米(平均:2.3厘米)。显微镜下,肿瘤边界清楚,无包膜。肿瘤内部或周边可见厚壁血管及被包绕的肾小管。肿瘤主要由巢状结构组成,局灶可见管状结构。肿瘤细胞胞质丰富、嗜酸性、呈颗粒状,核仁明显、较大。可见显著的胞质内空泡。这些胞质内空泡大小不一,常融合成一个大的腔隙。局灶可见疏松的纤维瘤样或玻璃样间质。免疫组织化学显示,所有病例肿瘤细胞均表现为CD117阳性/CK7阴性表型。所有病例CD10和p504s均为阳性。4例MTOR、S6和组织蛋白酶K阳性。所有病例TFE3、CA9、Melan A和HMB45均为阴性。SDHB保留表达。NGS显示所有病例均有MTOR突变,2例有TSC2突变。EVT是一种罕见的嗜酸性肾肿瘤,具有独特的形态、免疫组织化学表型、分子特征及惰性生物学行为。认识这种新的罕见实体的特征将有助于更好地对肾肿瘤进行分类。

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