Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors
Histomorphologic spectrum of germline-related and sporadic BAP1-inactivated melanocytic tumors
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DOI：
10.1016/j.jaad.2018.05.005
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发表时间：
2018-09-01
影响因子：
13.8
通讯作者：
Gerami, Pedram
中科院分区：
文献类型：
--
作者：
Garfield, Erin M.;Walton, Kara E.;Gerami, Pedram
背景：brca1相关蛋白1 (BAP1)-失活黑色素细胞瘤（BIMTs）通常是BAP1肿瘤易感综合征的最早征兆。鉴定bimt和选择患者进行种系检测会影响种系BAP1突变患者的生活。目的：描述bap1失活黑素细胞病变的组织形态学特征，以提高对其的认识。我们确定了本队列中散发性与生殖系病例的频率，评估是否有任何特征与生殖系状态有统计学联系。方法：将bap1失活黑色素细胞病变的种系突变病例与未知或阴性病例进行比较，分析其组织形态学特征。报告了现有的临床随访数据。结果：bap1失活黑素细胞病变的组织形态学谱广泛；它包括有spitzolike细胞形态（69%），较小的上皮样细胞无spitzolike特征（31%）和rhab doi细胞学特征（58%）。从统计上看，来自种系突变患者的bimt更有可能具有广泛的bbap1失活黑素细胞的连接成分（P = 0.0177）。所有11例怀疑或确认种系突变的患者均有皮肤黑色素瘤或多发bimt病史。局限性：77例患者生殖系状态未知。结论：大约12%的bimt患者存在种系突变。在BIMT中广泛的交叉性参与和黑色素瘤的个人病史或以前的BIMT可能是种系检测的额外适应症。
Background: BRCA1-associated protein 1 (BAP1)-inactivated melanocytic tumors (BIMTs) are often the earliest sign of the BAP1 tumor predisposition syndrome. Identification of BIMTs and selection of patients for germline testing affect the lives of patients with germline BAP1 mutations.Objective: To describe the spectrum of histomorphologic findings in BAP1-inactivated melanocytic lesions to improve their recognition. We determined the frequency of sporadic versus germline cases in our cohort, assessing whether any features were statistically linked to germline status.Methods: Histomorphologic features of BAP1-inactivated melanocytic lesions were analyzed by comparing cases with germline mutations with those with unknown or negative status. Available clinical follow-up data were reported.Results: The histomorphologic spectrum of BAP1-inactivated melanocytic lesions is broad; it includes cases with spitzoid cytomorphology (69%), smaller epithelioid cells without spitzoid features (31%), and rhab doi d cytologic features (58%). BIMTs from patients with germline mutations were statistically more likely to have an extensive junctional component of BAP1-inactivated melanocytes (P = .0177). All 11 patients with suspected or confirmed germline mutations had a history of cutaneous melanoma or multiple BIMTs.Limitations: The unknown germline status of 77 patients.Conclusion: Approximately 12% of patients with BIMTs have germline mutations. Extensive junctional involvement in a BIMT and a personal history of melanoma or previous BIMT may be additional indications for germline testing.