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角化性汗孔瘤:一种罕见的汗孔瘤变异型,模拟恶性肿瘤,常携带 YAP1::NUTM1 融合,类似于其常规对应物。

Cuticular Poroma: A Rare Poroma Variant Simulating a Malignant Neoplasm That Often Harbors YAP1::NUTM1 Fusions Similar to Their Conventional Counterparts.

机构信息

Department of Dermatology, University Hospital Zurich, University of Zurich, Switzerland.

Department of Pathology, Clinical Research and Practical Center for Specialized Oncological Care, Saint-Petersburg, Russia.

出版信息

Am J Dermatopathol. 2023 Aug 1;45(8):544-548. doi: 10.1097/DAD.0000000000002465. Epub 2023 Jun 15.

Abstract

Cuticular poroma is a rare variant of poroma composed of exclusively or predominantly cuticular cells, namely of large cells with ample eosinophilic cytoplasm. We report 7 cases of this rare tumor identified among 426 neoplasms diagnosed as poroma or porocarcinoma. The patients were 4 males and 3 females, ranging in age from 18 to 88 years. All presented with a solitary asymptomatic nodule. The location included knee (2 cases), shoulder, thigh, shin, lower arm, and neck (each 1). All lesions were surgically removed. No evidence of disease was observed in 5 patients with available follow-up (range 12-124 months).Microscopically, all neoplasms were composed of variably sized, focally closed packed, or interconnecting nodules constituted mostly of cuticular cells. Small poroid cells were a focal feature in 5 tumors, whereas in the remaining 2 cases, poroid cells with conspicuous but still in minority. Five neoplasms were somewhat asymmetric, with irregular outlines. Ductal differentiation and intracytoplasmic vacuoles were seen in 6 tumors. Other features variably encountered were conspicuous intranuclear pseudoinclusions, cystic change, occasional multinucleated cells, increased mitoses, and stromal desmoplasia. Four of the 5 tumors analyzed with next-generation sequencing yielded YAP1::NUTM1 fusions. In addition, various mutations, mostly of unknown significance were identified in one neoplasm.

摘要

角化性汗孔瘤是汗孔瘤的一种罕见变异型,主要由角质细胞组成,即具有丰富嗜酸性细胞质的大细胞。我们报告了在 426 例诊断为汗孔瘤或汗孔癌的肿瘤中发现的 7 例这种罕见肿瘤。患者为 4 名男性和 3 名女性,年龄 18-88 岁。所有患者均表现为单发无症状结节。病变部位包括膝关节(2 例)、肩部、大腿、胫骨、前臂和颈部(各 1 例)。所有病变均通过手术切除。5 例患者获得随访(随访时间 12-124 个月),均未发现疾病证据。显微镜下,所有肿瘤均由大小不等、局灶性紧密排列或相互连接的结节组成,主要由角质细胞组成。小汗孔细胞是 5 个肿瘤的一个局灶性特征,而在另外 2 个病例中,汗孔细胞虽然明显但仍属少数。5 个肿瘤有些不对称,轮廓不规则。6 个肿瘤可见导管分化和胞质内空泡。其他不同程度出现的特征包括明显的核内假包涵体、囊性变、偶尔多核细胞、增加的有丝分裂和基质玻璃样变。5 个肿瘤中有 4 个通过下一代测序检测到 YAP1::NUTM1 融合。此外,在一个肿瘤中还发现了各种突变,大多数为意义不明的突变。

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