BRCA1相关蛋白-1灭活的黑色素细胞肿瘤：优先表达的黑色素瘤中临床病理谱和免疫组织化学表达模式的表征
BRCA1-associated-protein-1 inactivated melanocytic tumours: characterisation of the clinicopathological spectrum and immunohistochemical expression pattern of preferentially expressed antigen in melanoma
影响因子:4.10000
分区:医学2区 / 细胞生物学2区 病理学2区
发表日期:2025 Jan
作者:
Yitong Xu, Alejandro A Gru, Thomas Brenn, Katharina Wiedemeyer
摘要
BRCA1促蛋白-1（BAP1）灭活肿瘤（BIMT）是罕见的黑素细胞肿瘤，可能被误认为是Spitz肿瘤或黑色素瘤。它们发生偶发性或与BAP1肿瘤易感综合征（BAP1-TPDS）相关，这可能会因卵巢或皮肤黑色素瘤，间皮瘤，基底细胞癌和肾细胞癌而复杂化。这项研究的目的是表征临床病理学特征和在BIMT的黑色素瘤（Prame）中优先表达的抗原的免疫组织化学表达模式。获得了enthicalical批准，综述了血久氧化物和曙红染色的幻灯片，并审查了Prame Immuno shimuno slide saltical Immunoy组织的临时记录，并进行了临时记录。鉴定出38例患者（F：M = 4.4：1）的65个BIMT。 BIMT通常位于躯干和头颈（中值= 0.5厘米）上。七名BAP1-TPD的患者（范围= 16-66岁，中位数= 25岁）有多个BIMT（中位数= 5），而零星的BIMT是单独的（中位患者年龄= 39岁）。 BAP1-TPD的七名患者之一患有其他恶性肿瘤（间皮瘤和皮肤纺锤体黑色素瘤），死于间皮瘤并发症。所有其他患者都活着，没有BIMT复发（中位随访= 42个月）。在63％的病例中，BIMT表示为具有丝裂性活性低，中度至重度细胞学异常的上皮性黑素细胞的结节骨聚集体。背景传统的Naevus占64％。在所有bimt中，泡沫免疫组织化学在零星的环境中均显示出阴性或淡淡的斑块阳性染色，尽管担心细胞学上的非典型性，但在零星的环境中表现出了不稳定的阳性染色。 PRAME免疫组织化学是将BIMT与黑色素瘤区分开的令人放心的工具。
Abstract
BRCA1-associaed protein-1 (BAP1) inactivated tumours (BIMT) are rare melanocytic tumours that may be mistaken for Spitz tumours or melanoma. They occur sporadically or in association with the BAP1 tumour predisposition syndrome (BAP1-TPDS), which may be complicated by uveal or cutaneous melanoma, mesothelioma, basal cell carcinoma and renal cell carcinoma. The aim of this study was to characterise the clinicopathological features and the immunohistochemical expression pattern of preferentially expressed antigen in melanoma (PRAME) of BIMT in a large patient cohort.Ethical approval was obtained, haematoxylin and eosin-stained slides were reviewed, PRAME immunohistochemistry was performed and clinical follow-up was obtained from patient records. Sixty-five BIMT from 38 patients (F:M = 4.4:1) were identified. BIMT were typically located on the trunk and head and neck (median size = 0.5 cm). Seven patients with BAP1-TPDS (range = 16-66 years, median = 25) had multiple BIMT (median = 5), while sporadic BIMT were solitary (median patient age = 39 years). One of seven patients with BAP1-TPDS developed additional malignancies (mesothelioma and cutaneous spindle cell melanoma) and died of complications of mesothelioma. All other patients are alive without recurrence of BIMT (median follow-up = 42 months). BIMT presented as intradermal, nodular aggregates of epithelioid melanocytes with low mitotic activity and moderate to severe cytological atypia in 63% of cases. A background conventional naevus was present in 64%. PRAME immunohistochemistry showed negative or weakly patchy positive staining in all BIMT.BIMT are more common in a sporadic setting and behave indolently, despite worrying cytological atypia. PRAME immunohistochemistry is a reassuring tool in distinguishing BIMT from melanoma.