- AJSP 短文：在成纤维细胞性结缔组织痣中发现反复激活的 PDGFRB 突变，与近期皮肤肌成纤维细胞瘤报道类似，支持二者密切相关。
- 形态重叠：真皮内梭形细胞增生；前者架构不规则/杂乱，后者相对表皮呈水平带状。
- 免疫组化：前者常 CD34+、SMA 相对少；后者常 SMA+、CD34 少见。
- 意义：将该病变置于 PDGFB 通路激活相关的真皮梭形细胞肿瘤谱系。原文为订阅内容，本站仅收摘要。
收录范围：PubMed 摘要中英对照。原文为 Ovid/LWW 订阅内容，本站未获全文与图表。
摘要
成纤维细胞性结缔组织痣（fibroblastic connective tissue nevus）是一种少见的良性皮肤病变，2012 年首次描述。特征为真皮内不规则分布的梭形细胞增生，有时可伴乳头状表皮增生和/或混杂脂肪组织。该病变与另一种良性皮肤病变——皮肤肌成纤维细胞瘤（dermatomyofibroma）存在一定形态重叠，有作者推测二者可能属于同一实体的形态谱系。近期在皮肤肌成纤维细胞瘤中已发现细胞表面受体酪氨酸激酶 PDGFRB 的反复激活突变。本文在成纤维细胞性结缔组织痣中识别出类似的反复激活 PDGFRB 突变，支持二者确实密切相关。直接比较提示，最可靠的区分特征是病变架构与免疫表型：成纤维细胞性结缔组织痣通常呈不规则或杂乱架构，而皮肤肌成纤维细胞瘤相对表皮多呈水平带状排列；免疫组化上，前者常表达 CD34而 SMA 相对缺乏，后者常表达 SMA而 CD34 少见。这些结果有助于理解二者关系，并将成纤维细胞性结缔组织痣置于以 PDGFB 通路激活为特征的真皮梭形细胞肿瘤更广谱系之中。
- AJSP report of recurrent activating PDGFRB mutations in fibroblastic connective tissue nevus, akin to those in dermatomyofibroma, supporting a close relationship.
- Morphology: intradermal spindle cells; irregular/haphazard architecture versus horizontal band-like arrangement.
- IHC: CD34-high/SMA-low versus SMA-high/CD34-low.
- Context: places the lesion among dermal spindle neoplasms with PDGFB-pathway activation. Subscription content — abstract only.
Scope: the PubMed abstract. The article is Ovid/LWW subscription content; the full text and figures were not obtained.
Abstract
Fibroblastic connective tissue nevus is an uncommon benign cutaneous lesion first described in 2012. It is characterized by an irregularly disposed intradermal spindle cell proliferation and is sometimes associated with papillomatous epidermal hyperplasia and/or admixed adipose tissue. Fibroblastic connective tissue nevus shows some morphologic overlap with a second benign cutaneous lesion known as dermatomyofibroma, and some authors have speculated that the 2 lesions might represent a morphologic spectrum of a single entity. Recurrent activating mutations in the cell-surface receptor tyrosine kinase PDGFRB have recently been identified in dermatomyofibroma. Here, we identified similar recurrent activating PDGFRB mutations in fibroblastic connective tissue nevus, supporting the notion that the 2 lesions are indeed closely related. Direct comparison of the 2 lesions suggests that the most reliable distinguishing characteristics are the lesional architecture and immunoprofile. Whereas fibroblastic connective tissue nevus typically shows an irregular or haphazard architecture, dermatomyofibroma typically shows a horizontal band-like arrangement relative to the overlying epidermis. Immunohistochemically, fibroblastic connective tissue nevus shows frequent expression of CD34 with relative lack of SMA, while dermatomyofibroma shows frequent SMA expression with much less frequent CD34. These results provide insight into the relationship between fibroblastic connective tissue nevus and dermatomyofibroma, and place fibroblastic connective tissue nevus in the broader context of dermal spindle cell neoplasms characterized by activation of the PDGFB pathway.