Department of Pathology, The Ohio State University College of Medicine, Wexner Medical Center, Columbus, Ohio.
Department of Pathology, The Ohio State University College of Medicine, Wexner Medical Center, Columbus, Ohio.
J Am Soc Cytopathol. 2020 Mar-Apr;9(2):95-102. doi: 10.1016/j.jasc.2019.10.005. Epub 2020 Jan 28.
Xp11.2 translocation-associated RCC (Xp11RCC) defined by molecular alterations involving TFE3 genetic rearrangements constitutes a large percentage of primary renal neoplasms in children, but less than 4% of adult cases. Fewer than 10 single case reports constitute the English cytopathology literature regarding this neoplasm. Our objective is to describe and illustrate the cytopathology of this uncommon renal neoplasm from a series of 5 cases using cytologic imprints, effusion specimens, and fine-needle aspiration (FNA) cytology.
Review was made of our cytopathology and surgical pathology databases. FNA biopsy smears and imprint smears were performed using a standard technique. Effusion samples were processed using liquid-based slides.
Five cytologic specimens from 4 patients with histopathologically confirmed Xp11RCC were identified (mean age: 36 years) over a period of 7 years. All cases contained large cells with voluminous amounts of vacuolated cytoplasm arranged in non-descript clusters and as single forms. A "tigroid" pattern consisting of linear strips of detached cytoplasm was seen in both imprint smear cases and the single FNA case. Psammomatous calcifications, true papillary structures, and hyaline globules were absent in all cases. Four examples were diagnosed as Xp11RCC, but 3 represented metastatic disease, and 1 was diagnosed using both cytology and core needle tissue histopathology. The remaining case was diagnosed nonspecifically as a clear cell malignant neoplasm.
The cytopathologic features of Xp1RCC are relatively nonspecific, and overlap with other renal cell carcinoma subtypes. A definitive diagnosis is only possible with ancillary immunohistochemistry with or without additional TFE3 fluorescence in situ hybridization.
Xp11.2 易位相关性肾细胞癌（Xp11RCC）由涉及 TFE3 基因重排的分子改变定义，它构成了儿童原发性肾肿瘤的很大一部分，但在成人病例中不到 4%。关于这种肿瘤，英文细胞学文献中只有不到 10 例个案报告。我们的目的是使用细胞学印片、渗出液标本和细针抽吸（FNA）细胞学描述和说明 5 例此类罕见肾肿瘤的细胞病理学特征。
对我们的细胞病理学和外科病理学数据库进行了回顾。使用标准技术进行 FNA 活检涂片和印片涂片。使用液基幻灯片处理渗出液样本。
在 7 年的时间里，从 4 例经组织病理学证实为 Xp11RCC 的患者中确定了 5 例细胞学标本（平均年龄：36 岁）。所有病例均包含体积较大的细胞，胞质富含空泡，呈无特征性的簇状和单个形式排列。在印片涂片和单个 FNA 病例中均可见到“虎纹”模式，即线性分离的细胞质条带。所有病例均无砂粒体样钙化、真性乳头状结构和透明小体。4 例被诊断为 Xp11RCC，但 3 例为转移性疾病，1 例通过细胞学和核心针组织病理学联合诊断。另 1 例被诊断为非特异性透明细胞恶性肿瘤。
Xp11RCC 的细胞病理学特征相对非特异性，与其他肾细胞癌亚型重叠。只有通过辅助免疫组织化学，或在必要时结合 TFE3 荧光原位杂交，才能做出明确的诊断。
