罕见的PEC瘤与PRCC::TFE3融合,模仿鼻窦道黑色素瘤。

IF 1.3 4区 医学 Q3 ANATOMY & MORPHOLOGY
Jerzy Lasota, Lester D R Thompson, Małgorzata Chłopek, Artur Kowalik, Markku Miettinen
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引用次数: 0

摘要

背景:我们报告了一例鼻腔异常血管周围上皮样细胞瘤(PEComa):我们报告了一起模仿粘膜黑色素瘤的鼻腔异常血管周上皮样细胞瘤(PEComa):方法:使用BenchMark Ultra和一组抗体进行免疫组化。利用 Ion Torrent 平台和 Ion AmpliSeq 癌症热点面板进行 DNA 基因分型。利用Archer Universal RNA Reagent Kit v2和Archer FusionPlex Solid Tumor panel构建了用于检测融合转录本的靶标特异性RNA文库,并在MiSeqDx仪器上进行测序:肿瘤由纺锤形细胞组成,无色素沉着。免疫组化显示 HMB-45 呈斑片状阳性。其他黑色素细胞标记物(S100 蛋白、Melan-A、SOX10)呈阴性。肿瘤细胞的KIT(CD117)呈弱阳性,而平滑肌肌动蛋白、泛酸角蛋白鸡尾酒(AE1/AE3)和突触素呈阴性。诊断结果为原发性鼻窦粘膜黑色素瘤。其他分子研究发现,PRCC::TFE3融合是唯一的基因改变,并提示诊断为不常见的PEComa。此前曾有报道称,TFE3融合出现在一部分PEC瘤中,但黑色素瘤中却没有,而PRCC参与眼部PEC瘤的情况仅有一次记录。免疫组化显示,TFE3的核表达与分子研究结果一致:本报告强调了分子检测在PEC瘤和黑色素瘤鉴别诊断中的重要性,尤其是当肿瘤发生在黑色素瘤的典型部位,但表现出不寻常的形态和免疫表型时。TFE3融合转录物的检测提示了SNT PEComa的诊断,尽管不能排除这种肿瘤和类似肿瘤代表了一种不同的诊断类别。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unusual PEComa With PRCC :: TFE3 Fusion Mimicking Sinonasal Tract Melanoma.

Background: We report a nasal cavity unusual perivascular epithelioid cell tumor (PEComa) mimicking mucosal melanoma.

Methods: Immunohistochemistry was performed using BenchMark Ultra and panel of antibodies. The Ion Torrent platform and Ion AmpliSeq cancer hotspot panel were utilized for DNA genotyping. Target-specific RNA libraries for the detection of fusion transcripts were constructed using Archer Universal RNA Reagent Kit v2 and Archer FusionPlex Solid Tumor panel and sequenced on the MiSeqDx instrument.

Results: The tumor, diagnosed in 46-year-old female, was composed of spindle cells, and lacked pigmentation. Immunohistochemically, it showed a patchy HMB-45 positivity. Other melanocytic markers (S100 protein, Melan-A, SOX10) were negative. The tumor cells were weakly positive for KIT (CD117) while negative for smooth muscle actin, pancytokeratin cocktail (AE1/AE3), and synaptophysin. Diagnosis of primary sinonasal tract mucosal melanoma was favored. Additional molecular studies detected PRCC :: TFE3 fusion as the sole genetic change, and suggested the diagnosis of unusual PEComa. Previously, TFE3 fusions were reported in a subset of PEComas but not in melanomas, while PRCC involvement has only been documented once in an ocular PEComa. Immunohistochemistry revealed strong nuclear TFE3 expression concordant with the molecular findings.

Conclusions: This report emphasis the importance of molecular testing in the differential diagnosis between PEComa and melanoma, especially when the tumor arises in a site typical of melanoma but showing an unusual morphology and immunophenotype. The detection of TFE3 fusion transcripts suggested the diagnosis of SNT PEComa, although it cannot be excluded that this and similar tumors represent a distinct diagnostic category.

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来源期刊
Applied Immunohistochemistry & Molecular Morphology
Applied Immunohistochemistry & Molecular Morphology ANATOMY & MORPHOLOGY-MEDICAL LABORATORY TECHNOLOGY
CiteScore
3.20
自引率
0.00%
发文量
153
期刊介绍: ​Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist. Official Journal of the International Society for Immunohistochemisty and Molecular Morphology​.
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