- 16 例上皮样纤维性丘疹（EFP）：女 7 例、男 9 例，诊断时中位年龄 42 岁（7–83 岁），14 例位于头颈部。
- 镜下：圆顶状、边界清楚的真皮内增生，上皮样与梭形细胞呈巢状或单个排列，埋于丰富的嗜酸性间质；细胞形态一致，胞质丰富淡染、核中等大小；CD68 局灶阳性 7 例、CD163 局灶阳性 5 例。
- 16/16 例检出 PDGFRB 致病性改变：错义突变 14 例（p.Y562C、p.N666K 各 5 例等），框内缺失 2 例；作者结论为 EFP 具独特形态并携带复发性激活型 PDGFRB 突变。
收录范围：PubMed 英文摘要及中文翻译（abstract-only）。原文为订阅制（Ovid/LWW 页面无开放全文，Unpaywall 暂未收录该 DOI），未采集全文、图表。
摘要
纤维性丘疹（FP）是一种常见的良性真皮间叶性病变，表现为孤立性、圆顶状丘疹，多位于鼻部。其形态谱系宽广，已有多种亚型被描述，包括富于细胞型、透明细胞型、色素型、多形性型、颗粒细胞型、炎症型和上皮样型。其中上皮样型非常罕见。在本研究中，我们对另外 16 例上皮样纤维性丘疹（EFP）进行了全面的形态学、免疫组化和分子特征分析。该队列包括女性 7 例、男性 9 例，诊断时中位年龄 42 岁（范围：7 至 83 岁）。解剖分布以头颈部为主（n=14）。镜下，所有病变均表现为圆顶状、边界清楚的真皮内增生，由上皮样及梭形细胞构成，呈巢状或单个排列，埋于丰富的嗜酸性间质中。肿瘤细胞形态一致，胞质丰富、淡染，细胞核中等大小。分别有 7 例和 5 例检出 CD68 和 CD163 的局灶免疫反应。分子分析显示，全部 16 例均存在 PDGFRB 基因的致病性改变，包括错义突变 p.Y562C（n=5）、p.N666K（n=5）、p.N666H（n=1）、p.P584L（n=1）、p.R562C（n=1）和 p.V568A（n=1）。另有 2 例各显示一种框内缺失，分别为 p.R561_R565del 和 p.W566_S574delinsC。总之，上皮样纤维性丘疹具有独特的形态学特征，并携带复发性、激活型 PDGFRB 突变。
- Sixteen epithelioid fibrous papules (EFP): 7 female, 9 male, median age 42 years (7–83), 14 in the head and neck.
- Microscopy: dome-shaped, well-circumscribed dermal proliferation of epithelioid and spindle cells in nests or single units within abundant eosinophilic stroma; uniform cells with abundant pale cytoplasm and medium-sized nuclei; focal CD68 in 7 and CD163 in 5.
- Pathogenic PDGFRB alterations in all 16: missense mutations in 14 (p.Y562C and p.N666K, 5 each, etc.) and in-frame deletions in 2; EFP shows distinct morphology and recurrent activating PDGFRB mutations.
Scope: PubMed abstract only. The article is subscription-only (no open full text on the Ovid/LWW page; DOI not yet indexed by Unpaywall), so full text, figures and tables were not collected.
Abstract
Fibrous papule (FP) is a common benign dermal mesenchymal lesion presenting as a solitary, dome-shaped papule mostly located on the nose. The morphologic spectrum is broad, and a number of variants have been described, including hypercellular, clear cell, pigmented, pleomorphic, granular, inflammatory, and epithelioid. The latter is very rare. In the current study, we present a comprehensive morphologic, immunohistochemical, and molecular characterization of 16 additional cases of epithelioid fibrous papule (EFP). The cohort included 7 females and 9 males, with a median age at diagnosis of 42 years (range: 7 to 83 y). Anatomic distribution showed predilection for the head and neck region (n=14). Microscopically, all lesions presented as a dome-shaped, well-circumscribed dermal proliferation composed of epithelioid and spindle-shaped cells arranged in nests or individual units and embedded in an abundant eosinophilic stroma. Neoplastic cells displayed uniform morphology with abundant pale cytoplasm and medium-sized nuclei. Focal immunoreactivity for CD68 and CD163 was detected in 7 and 5 cases, respectively. Molecular analysis revealed pathogenic alterations in the PDGFRB gene in all 16 cases, including missense mutations p.Y562C (n=5), p.N666K (n=5), p.N666H (n=1), p.P584L (n=1), p.R562C (n=1), and p.V568A (n=1). One case each exhibited an in-frame deletion, p.R561_R565del and p.W566_S574delinsC, respectively. In summary, epithelioid fibrous papule is characterised by distinct morphologic features and harbours recurrent, activating PDGFRB mutations.