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Importance ofNAB2-STAT6Fusion in the Diagnosis of Pancreatic Solitary Fibrous Tumor with Hamartoma-Like Features: A Case Report and Review of the Literature

机译:NAB2-STAT6融合在诊断具有类瘤状特征的胰腺孤立性纤维瘤中的重要性:一例病例并文献复习

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摘要

We report a case of pancreatic hamartoma-like solitary fibrous tumor which was differentiated from pancreatic hamartoma with the detection ofNAB2-STAT6fusion, a specific mutation for solitary fibrous tumors. A pancreatic well-demarcated solid nodule,21×17 mm, of 82-year-old man was surgically enucleated. Microscopic findings were close to a pancreatic hamartoma that consisted of sparsely distributed pancreatic ducts and acini in heavily collagenized fibrous stroma. Neither islet nor peripheral nerve existed in the tumor. The fibroblastic cells in the stroma were immune-positive for CD34, CD99, and bcl-2. But these expressions were not decisive in the differentiation between solitary fibrous tumor and pancreatic hamartoma, because CD34 was positive for both tumors, and CD99 and bcl-2 expressions were not elucidated in the previous cases of pancreatic hamartomas. Thus, we evaluatedNAB2-STAT6fusion. The fibroblastic cells were positive for STAT6 and sequencing analysis revealed the gene fusion betweenNAB2exon 4 andSTAT6exon 2, with which the final diagnos is of solitary fibrous tumor was achieved. In conclusion, detection ofNAB2-STAT6fusion has a great diagnostic value for pancreatic solitary fibrous tumors with hamartoma-like features.
机译:我们报告了一例胰腺错构瘤样孤立性纤维性肿瘤,其与胰腺错构瘤通过检测NAB2-STAT6fusion发生了区别,NAB2-STAT6fusion是针对孤立性纤维瘤的一种特异性突变。手术摘除了一个82岁的胰腺标本良好的实性结节,大小为21×17mm。显微镜下的发现接近于由严重胶原蛋白化纤维基质中稀疏分布的胰管和腺泡组成的胰腺错构瘤。肿瘤中既不存在胰岛也不存在外周神经。基质中的成纤维细胞对CD34,CD99和bcl-2呈免疫阳性。但是,这些表达对于孤立性纤维性肿瘤与胰腺错构瘤的分化没有决定性作用,因为CD34对两种肿瘤均呈阳性,而在先前的胰腺错构瘤病例中,CD99和bcl-2的表达尚不清楚。因此,我们评估了NAB2-STAT6融合。成纤维细胞对STAT6呈阳性,测序分析显示NAB2exon 4与STAT6exon 2之间的基因融合,最终诊断为孤立性纤维性肿瘤。综上所述,NAB2-STAT6融合蛋白的检测对具有错构瘤样特征的胰腺孤立性纤维瘤具有重要的诊断价值。

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