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嗜酸性实性腺泡性肾细胞癌:18 例形态学和免疫组织化学研究及文献复习。

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

机构信息

From the Departments of Pathology (Q. Guo, B. Yang, L. Qi, Y. Guo, Y. Liu, Z. Cao, Y. Wang, J Wang, L. Li, Q. Huang, C. Liu, T. Qu, W. Zhao, D. Ren, M. Yang, C. Yan, B. Meng, W. Cao) and Medical Oncology (X. Yao), Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Key Laboratory of Cancer Prevention and Therapy, Tianjin, Tianjin's Clinical Research Center for Cancer, Tianjin, China.

the Faculty of Health Sciences, McMaster University, Hamilton, Ontario, Canada (F. Wang).

出版信息

Arch Pathol Lab Med. 2024 Oct 1;148(10):1126-1134. doi: 10.5858/arpa.2023-0122-OA.

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 a 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.

摘要

背景

嗜酸细胞性实性和囊性肾细胞癌在 2022 年世界卫生组织泌尿生殖系统肿瘤分类的第 5 版中被定义。

目的

对中国的这一新实体进行形态学、免疫组织化学和初步遗传研究,以更好地了解它。

设计

该研究包括来自中国北方一个地区性三级肿瘤中心(天津)的 18 例患者。我们调查了这些病例的临床和免疫组织化学特征。

结果

患者的平均年龄为 49.6 岁,男女比例为 11:7。大体上,1 例具有典型的囊实性外观,而其余的则表现为单纯实性。显微镜下,所有 18 例肿瘤均具有相似的实性和局灶性大囊或微囊生长模式,细胞特征为体积大、嗜酸性细胞质,伴有粗糙的嗜碱性点彩。免疫组织化学上,大多数肿瘤具有主要的角蛋白(CK)20 阳性特征,范围从局灶性细胞质染色到弥漫性膜强调。最初,我们将这些病例分为不同的免疫组织化学表型。第 1 组(18 例中的 7 例;38.5%)的特征是磷酸化 4EBP1 和磷酸化 S6 阳性,这可能意味着机械靶蛋白雷帕霉素复合物 1(mTORC1)信号的过度活跃。第 2 组(18 例中的 4 例;23%)为 NF2 阴性,可能暗示 NF2 的种系突变。第 3 组(18 例中的 7 例;38.5%)由其余病例组成。1 例有转移扩散,表现出侵袭性临床病程,我们在该病例中检测到细胞周期蛋白依赖性激酶抑制剂 2A(CDKN2A)突变;其他患者仍存活且无疾病进展。

结论

我们的研究表明,嗜酸细胞性实性和囊性肾细胞癌具有典型的病理特征,CK20 阳性,具有侵袭性潜能。

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