PRRX1融合间充质肿瘤:一种新型的PRRX1::NCOA1融合转录本。

IF 1.6 4区 医学 Q3 DERMATOLOGY Journal of Cutaneous Pathology Pub Date : 2024-07-10 DOI:10.1111/cup.14683
Xiao Cheng MD, Jian Wang MD, PhD, Rong Fang PhD, Jiayun Xu MS, Suying Wang MD, Ming Zhao MD
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引用次数: 0

摘要

PRRX1融合间充质肿瘤是最近发现的一种罕见的皮下软组织肿瘤,在大多数报道的病例中,其特征是PRRX1(外显子1)与NCOA1(外显子13)融合。虽然最初被认为是成纤维细胞性肿瘤,但也有一部分病例可能是神经或神经外胚层分化。我们报告了一名 26 岁女性的病例,她的左大腿皮下有一个 4.0 厘米的无痛性肿块。显微镜下,肿瘤呈环状和多结节状,由相对单形的卵圆形至纺锤形细胞组成,排列成松散的束状、小梁状和条索状,交替分布在肌层和纤维基质以及血管基质中。有丝分裂很少,也未观察到坏死。通过免疫组化,肿瘤细胞显示出 S100 蛋白和 SOX10 的灶性共表达,而上皮膜抗原、平滑肌肌动蛋白、desmin、CD34、STAT6、HMB45、Melan-A 和 MUC4 均为阴性。保留了 Rb1 的表达。靶向 RNA 测序确定了 PRRX1(外显子 1)::NCOA1(外显子 15)的新型转录本融合,并通过反转录聚合酶链反应和 Sanger 测序进一步证实了这一点。经过 13 个月的随访,肿瘤被勉强切除,未发现肿瘤复发或转移。总之,我们报告了一例新的 PRRX1 融合间充质肿瘤病例,扩大了分子遗传谱,并为这种新兴软组织肿瘤实体可能的神经或神经外胚层分化提供了进一步支持。
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PRRX1-fused mesenchymal neoplasm: A novel PRRX1::NCOA1 fusion transcript

PRRX1-fused mesenchymal neoplasm is a recently identified, rare subcutaneous soft tissue neoplasm that is characterized by fusion of PRRX1 (exon 1) with NCOA1 (exon 13) in the majority of reported cases. Although initially considered to be fibroblastic, a possibility of neural or neuroectodermal differentiation has been suggested in a subset of cases. We report a 26-year-old female with a 4.0 cm painless mass located in the subcutis of the left thigh. Microscopically, the tumor was well-circumscribed and multinodular and was composed of relatively monomorphic ovoid to spindle cells arranged in loose fascicles, trabeculae, and cords within alternating myxoid and fibrous matrix, and vascularized stroma. Mitotic figures were scarce and necrosis was not observed. By immunohistochemistry, the neoplastic cells demonstrated focal co-expression of S100 protein and SOX10 and were negative for epithelial membrane antigen, smooth muscle actin, desmin, CD34, STAT6, HMB45, Melan-A, and MUC4. The expression of Rb1 was retained. Targeted RNA-sequencing identified a novel transcript fusion of PRRX1 (exon 1)::NCOA1 (exon 15), which was further confirmed by reverse transcription polymerase chain reaction and Sanger sequencing. The tumor was narrowly excised and no tumor recurrence or metastasis was identified after 13 months of follow-up. In summary, we report a new case of PRRX1-fused mesenchymal neoplasm, expanding the molecular genetic spectrum and providing further support for possible neural or neuroectodermal differentiation of this emerging soft tissue tumor entity.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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