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经微创细胞学评估诊断为 TFE3 基因重排相关性肾细胞癌:病例报告。

Minimally invasive cytologic evaluation leading to the diagnosis of TFE3-rearranged renal cell carcinoma: A case report.

机构信息

Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.

出版信息

Diagn Cytopathol. 2022 Dec;50(12):E382-E385. doi: 10.1002/dc.25042. Epub 2022 Aug 17.

Abstract

TFE3-rearranged renal cell carcinoma (RCC) has been categorized as a molecularly defined renal carcinoma in the 2022 WHO classification of tumors as it does not demonstrate a specific genotype-phenotype correlation. However, in order to arrive at the diagnosis, recognition of the broad spectrum of cytologic and histologic features that can be seen in TFE3-rearranged RCC is important for differential diagnostic consideration. Reported here is the diagnostic workup of a TFE3-rearranged RCC using very limited tissue sample. The initial evaluation was dependent on the cytomorphologic findings observed on a touch preparation made from the renal mass biopsy, directing appropriate selection of ancillary tests, and leading to a definitive diagnosis.

摘要

TFE3 重排肾细胞癌(RCC)在 2022 年世界卫生组织肿瘤分类中被归类为一种分子定义的肾癌,因为它没有表现出特定的基因型-表型相关性。然而,为了做出诊断,认识到 TFE3 重排 RCC 中可见的广泛细胞学和组织学特征对于鉴别诊断考虑很重要。本文报告了一例使用非常有限的组织样本进行 TFE3 重排 RCC 的诊断工作。初始评估依赖于从肾肿块活检制作的触诊标本中观察到的细胞形态学发现,指导适当选择辅助检查,并导致明确诊断。

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