Xia Q, Chang X N, Huang B, Li X F, Luo D J, Wang Q J, Jiang M T, Fan J, Zhou D W
Department of Pathology, the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.
Zhonghua Bing Li Xue Za Zhi. 2024 Aug 8;53(8):837-842. doi: 10.3760/cma.j.cn112151-20240110-00025.
To investigate the clinical, cytomorphology, immunocytochemical and molecular features of metastatic melanoma in serosal cavity effusion. Cytological specimens of 14 patients with melanoma in the chest and abdomen were collected from 2017 to 2023, at the Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. SOX10, S-100 protein, PRAME, BRAF V600E, HMB45, and Melan A were detected by immunocytochemical methods. Fourteen cases were tested for routine antibody combinations, including Claudin4, HEG1, Calretinin, CD68, etc. Four of the patients had biopsy or surgical samples of metastatic solid lesions of primary sites, and further next-generation sequencing (NGS) or amplification refractory mutation system (ARMS)-PCR molecular test was performed. In addition, 30 cases of serosal effusion samples were collected as control groups (10 cases of benign mesothelial cell reactive hyperplasia, 10 cases of mesothelioma, and 10 cases of metastatic lung adenocarcinoma). Among the 14 cases of melanoma, there were 7 males and 7 females, with ages ranging from 35 to 86 years, and an average age of 57 years, there 10 cases aged ≥50 years. The tumor cells in the serosal effusion varied in morphology and degree of atypia. SOX10 was positive in all 14 cases (14/14), S-100 protein was positive in 10 cases (10/14), PRAME was positive in 12 cases (12/14), BRAF V600E was positive in 10 cases (10/14), HMB45 was positive in 12 cases (12/14), and Melan A was positive in 13 cases (13/14). In 4 patients with histological correlation, the cytological and histological expression of SOX10, BRAF V600E, and PRAME was positive in all 4 cases (4/4); S-100 protein was positive in 2 cases (2/4); and HMB45 and Melan A were positive in 3 cases (3/4). Using NGS or ARMS-PCR, missense mutations of BRAF V600E were detected in all 4 patients; TERT promoter mutations was detected in 1 case; and CDKN2A terminating mutations and MSI1 deletion mutations were detected in the other case. SOX10, S-100, HMB45, Melan A, PRAME and BRAF V600E were all negative in 30 control samples of serosal cavity effusion. By observing the morphology of tumor cells, immunocytochemical test of several combination markers, especially the expression of SOX10, BRAF V600E and PRAME, can help to improve the positive diagnosis rate of melanoma in serous cavity effusion.
探讨浆膜腔积液中转移性黑色素瘤的临床、细胞形态学、免疫细胞化学及分子特征。2017年至2023年期间，在中国武汉华中科技大学同济医学院附属协和医院收集了14例胸腹部黑色素瘤患者的细胞学标本。采用免疫细胞化学方法检测SOX10、S-100蛋白、PRAME、BRAF V600E、HMB45和Melan A。对14例患者进行常规抗体组合检测，包括Claudin4、HEG1、钙视网膜蛋白、CD68等。其中4例患者有原发部位转移实性病变的活检或手术样本，并进一步进行了二代测序（NGS）或扩增阻滞突变系统（ARMS）-PCR分子检测。此外，收集30例浆膜腔积液样本作为对照组（10例良性间皮细胞反应性增生、10例间皮瘤和10例转移性肺腺癌）。14例黑色素瘤患者中，男性7例，女性7例，年龄35至86岁，平均年龄57岁，其中10例年龄≥50岁。浆膜腔积液中的肿瘤细胞形态和异型程度各异。14例患者SOX10均呈阳性（14/14），10例S-100蛋白呈阳性（10/14），12例PRAME呈阳性（12/14），10例BRAF V600E呈阳性（10/14），12例HMB45呈阳性（12/14），13例Melan A呈阳性（13/14）。在4例有组织学相关性的患者中，SOX10、BRAF V600E和PRAME的细胞学和组织学表达在所有4例中均呈阳性（4/4）；2例S-100蛋白呈阳性（2/4）；3例HMB45和Melan A呈阳性（3/4）。采用NGS或ARMS-PCR检测，4例患者均检测到BRAF V600E错义突变；1例检测到TERT启动子突变；另1例检测到CDKN2A终止突变和MSI1缺失突变。30例浆膜腔积液对照样本中SOX10、S-100、HMB45、Melan A、PRAME和BRAF V600E均为阴性。通过观察肿瘤细胞形态、几种组合标志物的免疫细胞化学检测，尤其是SOX10、BRAF V600E和PRAME的表达，有助于提高浆膜腔积液中黑色素瘤的阳性诊断率。
