Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.,Journal of the American Academy of Dermatology

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Clinical and dermoscopic features of cutaneous BAP1-inactivated melanocytic tumors: Results of a multicenter case-control study by the International Dermoscopy Society.
Journal of the American Academy of Dermatology ( IF 13.8 ) Pub Date : 2018-09-20 , DOI: 10.1016/j.jaad.2018.09.014
Oriol Yélamos ₁ , Cristián Navarrete-Dechent ₂ , Michael A Marchetti ₃ , Tova Rogers ₃ , Zoe Apalla ₄ , Philippe Bahadoran ₅ , Nuria Blázquez-Sánchez ₆ , Klaus Busam ₇ , Cristina Carrera ₈ , Stephen W Dusza ₃ , Arnaud de la Fouchardière ₉ , Gerardo Ferrara ₁₀ , Pedram Gerami ₁₁ , Harald Kittler ₁₂ , Aimilios Lallas ₄ , Josep Malvehy ₈ , José F Millán-Cayetano ₆ , Kelly C Nelson ₁₃ , Victor Li Quan ₁₁ , Susana Puig ₈ , Howard Stevens ₁₄ , Luc Thomas ₁₅ , Ashfaq A Marghoob ₃

Affiliation

Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York; Dermatology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York; Department of Dermatology, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.
Dermatology Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
First Department of Dermatology, Aristotle University, Thessaloniki, Greece.
Dermatology Department, Centre Hospitalier Universitaire de Nice, Nice, France.
Dermatology Department, Hospital Costa del Sol, Marbella, Spain.
Pathology Department, Memorial Sloan Kettering Cancer Center, New York, New York.
Dermatology Department, Hospital Clínic, Institut d'Investigacions Biomediques August Pi i Sunyer, Universitat de Barcelona, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Barcelona, Spain.
Département de Biopathologie, Centre Léon Bérard, Lyon, France.
Anatomic Pathology Unit, Hospital of Macerata, Macerata, Italy.
Dermatology Department, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Department of Dermatology, Medical University of Vienna, Vienna, Austria.
Dermatology Department, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Skin Care Network, Barnet, London, United Kingdom.
Department of Dermatology, Lyon 1 University, Centre Hospitalier Lyon Sud and Lyon's Cancer Research Center INSERM U1052 - CNRS UMR5286, Lyon, France.

Background

Multiple BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) have been associated with a familial cancer syndrome involving germline mutations in BAP1.

Objectives

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).

Limitations

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.

中文翻译：

皮肤BAP1灭活的黑素细胞性肿瘤的临床和皮肤镜检查特征：国际皮肤镜学会进行的多中心病例对照研究的结果。

背景

多个BRCA1相关蛋白1（BAP1）灭活的黑素细胞瘤（BIMTs）已与涉及BAP1种系突变的家族性癌症综合征相关。

目标

我们试图描述BIMT的临床和皮肤镜特征。

方法

这是一项回顾性，多中心，病例对照的研究。参与中心提供了经活检证实的BIMT的临床数据，皮肤镜图像和组织病理学数据。我们比较了BIMT和对照组患者的皮肤镜特征。

结果

该数据集由来自31位患者（22位女性；中位年龄37岁）和80位对照患者的48个BIMT组成。11名患者发生了BAP1种系突变。临床上，大多数BIMT呈粉红色，圆顶形丘疹（n = 24）。在皮肤镜下，我们确定了5种模式：无结构的粉红色到棕褐色，带有不规则的偏心点/小球（n = 14，29.8％）；无结构粉红色至棕褐色，周围血管（n = 10，21.3％）；无结构的粉红色到棕褐色（n = 7，14.9％）；具有凸起的，无结构的粉红色到棕褐色区域的网络（n = 7，占14.9％）；和球状图案（n = 4，8.5％）。仅在BIMT中鉴定出具有偏心点/小球模式的无结构和具有升高的无结构区域模式的网络，并且在具有BAP1种系突变的患者中更为常见（P 分别<.0001和P = .001）。