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未被怀疑的Xp11易位性肾肿瘤伴对侧透明细胞癌

Unsuspected Xp11 Translocation Renal Neoplasm Associated With Contralateral Clear Cell Carcinoma.

作者信息

D'Antonio Antonio, Addesso Maria, Nappi Oscar, Zeppa Pio

机构信息

A.O.U. S. Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy

ASL Salerno, Hospital Tortora, Pagani (SA), Italy.

出版信息

Int J Surg Pathol. 2016 May;24(3):248-52. doi: 10.1177/1066896915597753. Epub 2016 Jan 4.

DOI:10.1177/1066896915597753
PMID:26729550
Abstract

In this report, we present for the first time the coexistence of a conventional renal cell carcinoma (RCC) and an undefined Xp11 translocation renal neoplasm in distinct kidneys, which was difficult to definitively classify as either carcinoma or PEComa (perivascular epithelioid cell tumor). While one of the tumors showed the morphological and immunohistochemical features of clear RCC, the other had an unusual morphology with a prominent nested pattern. Microscopically this tumor showed nests of cells with clear and eosinophilic cytoplasm and nuclei with prominent nucleoli; some hyaline globules were evident. Immunohistochemical panel showed negativity for cytokeratin-pan, cytokeratin-7, PAX8, and CD10 but positive immunostaining for cathepsin K, racemase, Melan-A, and TFE3. A subsequent, metaphase, dual-color fluorescence in situ hybridization confirmed the Xp11 translocation. Attention should be paid to the routine immunohistochemical profile that, in case of negativity of specific RCC markers, may suggest an Xp11 translocation renal tumor. The addition of TFE3 can easily identify the specific subtype.

摘要

在本报告中,我们首次呈现了在不同肾脏中同时存在传统肾细胞癌(RCC)和未明确的Xp11易位性肾肿瘤的情况,这难以明确归类为癌或PEComa(血管周上皮样细胞瘤)。其中一个肿瘤表现出透明RCC的形态学和免疫组化特征,而另一个具有不寻常的形态,呈显著的巢状结构。显微镜下,该肿瘤显示细胞巢,细胞质透明且嗜酸性,细胞核有明显核仁;可见一些透明小球。免疫组化检测显示细胞角蛋白泛抗体、细胞角蛋白7、PAX8和CD10呈阴性,但组织蛋白酶K、消旋酶、Melan-A和TFE3免疫染色呈阳性。随后的中期双色荧光原位杂交证实了Xp11易位。应注意常规免疫组化特征,在特定RCC标志物呈阴性的情况下,可能提示Xp11易位性肾肿瘤。添加TFE3可轻松识别特定亚型。

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