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一项关于有或无雄激素性脱发的头皮黑素瘤患者的临床、皮肤镜、组织病理学和分子模式的横断面研究。

A cross-sectional study of clinical, dermoscopic, histopathological, and molecular patterns of scalp melanoma in patients with or without androgenetic alopecia.

机构信息

Cutaneous Oncology Department, A. C. Camargo Cancer Center, Rua Pires da Mota, 1167, São Paulo, SP, 01529-001, Brazil.

Department of Epidemiology and Statistics, A. C. Camargo Cancer Center, São Paulo, Brazil.

出版信息

Sci Rep. 2022 Sep 5;12(1):15096. doi: 10.1038/s41598-022-17108-z.

Abstract

Scalp melanoma (SM) has a worse prognosis than melanoma in other locations likely because of late diagnosis due to hair coverage, difficulties in interpreting dermoscopy findings, and its unique molecular profile. We aimed to describe the clinical, histopathological, molecular, and dermoscopic patterns of SM and its relation to androgenetic alopecia/elastosis at the tumor site. Through a retrospective cross-sectional study, we identified all SM diagnosed at the A.C.Camargo Cancer Center between 2008 and 2018. In all, 48 SM were analyzed: 45.8% of which exhibited moderate/severe androgenetic alopecia and 54.1% exhibited elastosis. Androgenetic alopecia/elastosis at the site of the SM was associated with older age (p < 0.001), chronic sun damage (p < 0.001), lentigo maligna subtype (p = 0.029), and photodamaged dermoscopic pattern (p < 0.001). Additionally, 41 cases were evaluated with a 14-gene panel: 53.7% displayed mutations and 46.3% were wild-type. BRAF mutations were most common (77%), with BRAF V600K being more frequent (50%) than BRAF V600E (31.2%). The NF1 gene was evaluated in 40 samples, of which 20% exhibited mutations. SM presents differently in areas covered by hair compared to in areas with androgenetic alopecia. Patients without alopecia may have higher Breslow thickness due to late diagnosis because of hair concealment. The high frequency of detrimental mutations can also explain the poor prognosis of SM.

摘要

头皮黑素瘤 (SM) 的预后比其他部位的黑素瘤差,可能是由于头发覆盖导致的诊断较晚、皮肤镜检查结果解读困难以及其独特的分子特征。我们旨在描述 SM 的临床、组织病理学、分子和皮肤镜模式及其与肿瘤部位雄激素性脱发/弹性组织变性的关系。通过回顾性横断面研究,我们确定了 2008 年至 2018 年期间在 A.C.Camargo 癌症中心诊断的所有 SM。共有 48 例 SM 进行了分析:45.8%的患者存在中重度雄激素性脱发,54.1%的患者存在弹性组织变性。SM 部位的雄激素性脱发/弹性组织变性与年龄较大(p < 0.001)、慢性日光损伤(p < 0.001)、恶性雀斑样痣型(p = 0.029)和光损伤性皮肤镜模式(p < 0.001)有关。此外,41 例患者接受了 14 基因检测:53.7%显示突变,46.3%为野生型。BRAF 突变最常见(77%),其中 BRAF V600K 比 BRAF V600E(31.2%)更为常见。NF1 基因在 40 个样本中进行了评估,其中 20%有突变。与雄激素性脱发部位相比,毛发覆盖部位的 SM 表现不同。由于头发的遮盖,无脱发的患者可能因诊断较晚而具有更高的 Breslow 厚度。有害突变的高频也可以解释 SM 预后不良的原因。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/241b/9445057/4896f99a030d/41598_2022_17108_Fig1_HTML.jpg

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