Eosinophilic Solid and Cystic Renal Cell Carcinoma: Morphologic and Immunohistochemical Study of 18 Cases and Review of the Literature.

Qianru Guo, Xin Yao, Bo Yang, Lisha Qi, Frank Wang, Yuhong Guo, Yanxue Liu, Zi Cao, Yalei Wang, Jinpeng Wang, Lingmei Li, Qiujuan Huang, Changxu Liu, Tongyuan Qu, Wei Zhao, Danyang Ren, Manlin Yang, Chenhui Yan, Bin Meng, Cheng Wang, Wenfeng Cao
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Abstract

Context.—: Eosinophilic solid and cystic renal cell carcinoma is now defined in the 5th edition of the 2022 World Health Organization classification of urogenital tumors.

Objective.—: To perform morphologic, immunohistochemical, and preliminary genetic studies about this new entity in China for the purpose of understanding it better.

Design.—: The study includes 18 patients from a regional tertiary oncology center in northern China (Tianjin, China). We investigated the clinical and immunohistochemical features of these cases.

Results.—: The mean age of patients was 49.6 years and the male to female ratio was 11:7. Macroscopically, 1 case had the classic cystic and solid appearance whereas the others appeared purely solid. Microscopically, all 18 tumors shared similar solid and focal macrocystic or microcystic growth pattern, and the cells were characterized by voluminous and eosinophilic cytoplasm, along with coarse amphophilic stippling. Immunohistochemically, most of the tumors had a predominant cytokeratin (CK) 20-positive feature, ranging from focal cytoplasmic staining to diffuse membranous accentuation. Initially, we separated these cases into different immunohistochemical phenotypes. Group 1 (7 of 18; 38.5%) was characterized by positive phospho-4EBP1 and phospho-S6, which can imply hyperactive mechanistic target of rapamycin complex 1 (mTORC1) signaling. Group 2 (4 of 18; 23%) was negative for NF2, probably implying a germline mutation of NF2. Group 3 (7 of 18; 38.5%) consisted of the remaining cases. One case had metastatic spread and exhibited an aggressive clinical course, and we detected cyclin-dependent kinase inhibitor 2A (CDKN2A) mutation in this case; other patients were alive and without disease progression.

Conclusions.—: Our research proposes that eosinophilic solid and cystic renal cell carcinoma exhibits prototypical pathologic features with CK20 positivity and has aggressive potential.

嗜酸性实性和囊性肾细胞癌:18 例病例的形态学和免疫组化研究及文献综述》(Eosinophilic Solid and Cystic Renal Cell Carcinoma: Morphologic and Immunohistochemical Study of 18 Cases and Review of the Literature.
背景嗜酸性实性和囊性肾细胞癌是目前世界卫生组织2022年第5版泌尿生殖系统肿瘤分类中的定义:在中国对这一新实体进行形态学、免疫组化和初步遗传学研究,以便更好地了解它:本研究包括来自中国北方(中国天津)一家地区性三级肿瘤中心的 18 名患者。我们研究了这些病例的临床和免疫组化特征:患者平均年龄为 49.6 岁,男女比例为 11:7。从宏观上看,1 例患者具有典型的囊实性外观,而其他患者则表现为纯实性。显微镜下,所有 18 例肿瘤都有类似的实性和局灶性大囊性或小囊性生长模式,细胞的特点是胞浆多且嗜酸性,伴有粗糙的嗜两性条纹。从免疫组化角度看,大多数肿瘤都以细胞角蛋白(CK)20阳性为主要特征,从局灶性细胞质染色到弥漫性膜状强化不等。最初,我们将这些病例分为不同的免疫组化表型。第 1 组(18 例中有 7 例,占 38.5%)的特征是磷酸化-4EBP1 和磷酸化-S6 阳性,这可能意味着雷帕霉素复合体 1(mTORC1)信号传导亢进。第 2 组(18 例中有 4 例,占 23%)NF2 阴性,可能意味着 NF2 基因突变。第 3 组(18 例中有 7 例,占 38.5%)由其余病例组成。其中一例患者出现转移扩散,临床表现凶险,我们在该例患者中检测到细胞周期蛋白依赖性激酶抑制剂 2A(CDKN2A)突变;其他患者均存活且无疾病进展:我们的研究表明,嗜酸性实性和囊性肾细胞癌具有CK20阳性的典型病理特征,并具有侵袭性。
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