Skin Cancer Department, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
Department of Pathology, A.C. Camargo Cancer Center, Rua Professor Antonio Prudente, 211 Liberdade, São Paulo, SP, CEP: 01509-900, Brazil.
BMC Cancer. 2019 Nov 9;19(1):1077. doi: 10.1186/s12885-019-6226-8.
BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations.
Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient's BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings.
This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.
BRCA1 相关蛋白 1（BAP1）肿瘤易感性综合征与恶性间皮瘤、葡萄膜和皮肤黑色素瘤、肾细胞癌以及单一皮肤病变的风险增加相关。后者被称为 BAP1 失活的黑色素瘤（BIMTs）。当多个 BIMTs 表现出来时，它们被认为是种系 BAP1 突变的潜在标志物。
在这里，我们报告了一个家族中存在 BIMTs、皮肤黑色素瘤和间皮瘤的新型致病性 BAP1 种系变异。我们还描述了患者 BIMT 病变的单一病理方面及其与皮肤镜和反射共聚焦显微镜检查结果的相关性。
皮肤科医生和病理学家对 BIMTs 的认识至关重要，这可以确定高危患者的适当治疗方法，例如遗传研究和潜在侵袭性肿瘤的筛查。
