Xue Shuang, Qiao Junbo, Yu Ruili, Li Mei, Ding Yanzhi, Fu Fangfang, Liu Qiuyu
Department of Pathology, Henan Provincial People's Hospital, the People's Hospital of Zhengzhou University, Zhengzhou, Henan, China.
Department of Hemangioma Surgery, The Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, China.
J Clin Pathol. 2024 Oct 26. doi: 10.1136/jcp-2024-209625.
To investigate the clinicopathological features and molecular characteristics of sporadic hypertrophic and nodular port-wine stains (PWS).
We analysed the clinicopathological and molecular characteristics of 27 sporadic hypertrophic and nodular PWS retrieved from our pathology database from 2013 to 2023 and reviewed the relevant literature.
There were 13 men and 14 women who ranged in age from 10 to 66 years. The main sites were the head and neck (23/27, 85%), which showed irregular thickening and darkening of purplish-red patches on the skin surface and the development of nodularity. Histologically, immature venule-like channels with irregular dilation are arranged in clusters or honeycombs, which are widely distributed primarily in the papillary layer and deep dermis and partly extend into the subcutaneous fat layer and other deep tissues. Dilated vessels with irregular shapes often exhibit fibrous thickening and an increased number of large vessels without vascular endothelial cell proliferation. All vessels showed similar characteristics, with positive staining for CD34, ERG and GNAQ in the endothelial cells, and negative staining for elastic fibres. Nine patients had somatic mutations (9/11, 82%), including exon four mutations (6 cases, p.R183Q), exon five mutations (2 cases, p.Q209R) and exon two mutations (one case, p.G48V). Two patients had somatic corepressor-like 1 () gene mutations (2/11, 18%), including exon 3 mutations (p.T1111M) and exon 7 mutations (p.G1391R).
Sporadic hypertrophic and nodular PWS are mostly related to somatic mutations. This is the first study to identify the Rare and somatic mutations.
探讨散发性肥厚性和结节性葡萄酒色斑（PWS）的临床病理特征及分子特征。
我们分析了2013年至2023年从我们的病理数据库中检索到的27例散发性肥厚性和结节性PWS的临床病理及分子特征，并复习了相关文献。
患者共27例，其中男性13例，女性14例，年龄在10至66岁之间。主要部位为头颈部（23/27，85%），表现为皮肤表面紫红色斑块不规则增厚、颜色加深及结节形成。组织学上，不成熟的小静脉样通道呈簇状或蜂窝状排列，不规则扩张，主要广泛分布于乳头层和真皮深层，部分延伸至皮下脂肪层及其他深部组织。形态不规则的扩张血管常出现纤维增厚，且大量血管增多但无血管内皮细胞增殖。所有血管均表现出相似特征，内皮细胞CD34、ERG和GNAQ染色阳性，弹性纤维染色阴性。9例患者存在体细胞突变（9/11，82%），包括4号外显子突变（6例，p.R183Q）、5号外显子突变（2例，p.Q209R）和2号外显子突变（1例，p.G48V）。2例患者存在体细胞共抑制因子样1（）基因突变（2/11，18%），包括3号外显子突变（p.T1111M）和7号外显子突变（p.G1391R）。
散发性肥厚性和结节性PWS大多与体细胞突变有关。这是首次鉴定出罕见体细胞突变的研究。
