背景:多种BRCA1相关蛋白1(BAP1)灭活的黑素细胞肿瘤(BIMT)与涉及BAP1种系突变的家族性癌综合征相关。
目的:我们试图描述BIMT的临床和皮肤镜特征。
方法:这是一个回顾性研究,多中心,病例对照研究。参与中心贡献了临床数据,皮肤镜图像,和活检证实的BIMT的组织病理学数据。我们比较了BIMT和对照组患者的皮肤镜特征。
结果:数据集包括来自31名患者(22名女性;平均年龄37岁)和80名对照患者的48例BIMT。11例患者具有BAP1种系突变。临床上,大多数BIMT呈现为粉红色,圆顶状丘疹(n=24)。在皮肤上,我们确定了5种模式:无结构粉红色至棕褐色,不规则偏心点/球(n=14,29.8%);无结构粉红色至棕褐色,周围血管(n=10,21.3%);无结构粉红色至棕褐色(n=7,14.9%);网络凸起,无结构,粉红色至棕褐色区域(n=7,14.9%);和球状图案(n=4,8.5%)。具有偏心点/小球模式的无结构模式和具有凸起的无结构区域模式的网络仅在BIMT中被鉴定,并且在具有BAP1种系突变的患者中更常见(分别为P<.0001和P=.001)。
结论:限制包括我们的小样本量,回顾性设计,所有患者都没有进行生殖系基因检测,以及对看起来更非典型的BIMT的包容偏见。
结论:圆顶状丘疹具有粉红色至棕褐色的无结构区域和周围不规则的点/球或网络,应引起临床对BIMT的怀疑。
BACKGROUND: Multiple BRCA1-associated protein 1 (
BAP1)-inactivated melanocytic tumors (BIMTs) have been associated with a familial cancer syndrome involving germline mutations in
BAP1.
OBJECTIVE: We sought to describe the clinical and dermoscopic features of BIMTs.
METHODS: This was a retrospective, multicenter,
case-control study. Participating centers contributed clinical data, dermoscopic images, and histopathologic data of biopsy-proven BIMTs. We compared the dermoscopic features between BIMTs and control patients.
RESULTS: The dataset consisted of 48 BIMTs from 31 patients (22 women; median age 37 years) and 80 control patients. Eleven patients had a
BAP1 germline mutation. Clinically, most BIMTs presented as pink, dome-shaped papules (n = 24). Dermoscopically, we identified 5 patterns: structureless pink-to-tan with irregular eccentric dots/globules (n = 14, 29.8%); structureless pink-to-tan with peripheral vessels (n = 10, 21.3%); structureless pink-to-tan (n = 7, 14.9%); a network with raised, structureless, pink-to-tan areas (n = 7, 14.9%); and globular pattern (n = 4, 8.5%). The structureless with eccentric dots/globules pattern and network with raised structureless areas pattern were only identified in BIMT and were more common in patients with
BAP1 germline mutations (P < .0001 and P = .001, respectively).
CONCLUSIONS: Limitations included our small sample size, retrospective design, the absence of germline genetic testing in all patients, and inclusion bias toward more atypical-looking BIMTs.
CONCLUSIONS: Dome-shaped papules with pink-to-tan structureless areas and peripheral irregular dots/globules or network should raise the clinical suspicion for BIMT.