A Case of Hybrid Cellular Neurothekeoma and Perineurioma With a Folliculin Gene Mutation

IF 1.6 4区 医学 Q3 DERMATOLOGY
Taylor J. Prechtel, Emma Brashear, Carina A. Dehner, Ahmed K. Alomari
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Abstract

Hybrid peripheral nerve sheath tumors (PNSTs) are benign tumors that show features of more than one type of PNST. Benign cutaneous plexiform hybrid tumor of perineurioma and cellular neurothekeoma (BCPHTPCN) is a rare, recently described entity that shows various combinations of histomorphologic and immunophenotypic features of the PNSTs perineurioma and cellular neurothekeoma. Our case describes a middle-aged man initially presenting with an acute papulopustular rosacea flare. Rosacea treatment unmasked a prominent erythematous papule on the forehead. A biopsy was taken, and histopathological examination showed a proliferation of epithelioid, ovoid, and spindled cells arranged in a compact nested and intersecting fascicular growth. Immunohistochemical stains were positive for NKI/C3, CD10, PGP9.5, MITF, and GLUT-1. There was weak reactivity with EMA and minimal reactivity with Claudin-1. Tumor cells were negative for SOX10, CD163, CD68, CD34, ALK, and Pan-TRK. The patient was diagnosed with BCPHTPCN. DNA and RNA sequencing showed a folliculin (FLCN) gene mutation, which is most commonly associated with Birt–Hogg–Dubé syndrome. The patient underwent excision and has remained without recurrence or complications several months post-diagnosis. We hope to expand the clinical and histopathologic characteristics of this peculiar neoplasm, as well as provide additional insight that might improve our understanding of BCPHTPCN tumorigenesis.

Abstract Image

混杂细胞性神经瘤和会阴瘤伴卵泡蛋白基因突变1例。
混合型外周神经鞘肿瘤(PNSTs)是一种具有多种外周神经鞘肿瘤特征的良性肿瘤。良性皮肤丛状瘤和细胞神经瘤混合瘤(BCPHTPCN)是一种罕见的,最近被描述的实体,表现出PNSTs周围瘤和细胞神经瘤的各种组织形态学和免疫表型特征的组合。我们的病例描述了一个中年男子最初提出了一个急性丘疹红斑痤疮耀斑。酒渣鼻治疗暴露了额头上一个突出的红斑丘疹。组织病理学检查显示上皮样细胞、卵形细胞和梭形细胞增生,排列成紧密的巢状和相交的束状生长。免疫组化染色NKI/C3、CD10、PGP9.5、MITF、GLUT-1阳性。与EMA的反应性较弱,与Claudin-1的反应性最小。肿瘤细胞SOX10、CD163、CD68、CD34、ALK、Pan-TRK均阴性。患者被诊断为BCPHTPCN。DNA和RNA测序显示卵泡蛋白(FLCN)基因突变,这与birt - hogg - dub综合征最常见。患者接受了手术切除,在诊断后几个月没有复发或并发症。我们希望扩大这种特殊肿瘤的临床和组织病理学特征,并提供额外的见解,以提高我们对BCPHTPCN肿瘤发生的理解。
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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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