Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL; and.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY.
Am J Dermatopathol. 2022 Aug 1;44(8):575-580. doi: 10.1097/DAD.0000000000002208. Epub 2022 Apr 27.
Spitzoid melanocytic neoplasms are a diagnostically challenging class of lesions in dermatopathology. Recently, molecular assays and immunohistochemical markers have been explored as ancillary methods to assist in the diagnostic workup. Specifically, preferentially expressed antigen in melanoma (PRAME) immunohistochemistry is a nuclear stain commonly positive in melanomas, but not in nevi. This study investigates PRAME immunoreactivity (≥75% positive nuclear staining in tumor cells) in a set of 59 spitzoid melanocytic neoplasms with known clinical outcomes. We compared PRAME status with (1) the clinical outcomes, (2) the morphologic diagnoses, and (3) the status of TERT promoter mutation. Regarding clinical outcomes, 3 cases developed metastatic disease, of which 2 expressed diffusely positive PRAME staining. Of the 56 cases that did not show evidence of metastasis, 6 expressed diffusely positive PRAME staining. Morphologically, diffusely positive PRAME staining was seen in 7 of 21 cases (33.3%) diagnosed as melanoma and only 1 benign tumor 1 of 38 (2.6%). There were 4 of 8 cases with a TERT promoter mutation which were diffusely PRAME-positive compared with 4 of 51 cases without TERT promoter mutation ( P = 0.001). Our results show a statistically significant correlation between PRAME expression and the diagnosis, outcome, and TERT promoter mutation status of atypical spitzoid melanocytic neoplasms, suggesting immunohistochemistry for PRAME can help support a suspected diagnosis. However, because of occasional false-positive and negative test results, correlation with the clinical and histologic findings as well as results from other tests is needed for the interpretation of diagnostically challenging spitzoid melanocytic neoplasms.
棘层松解性黑色素细胞瘤是皮肤科病理诊断中具有挑战性的病变类别。最近,人们探索了分子检测和免疫组织化学标志物作为辅助方法,以协助诊断。具体而言,黑色素瘤中优先表达的抗原(PRAME)免疫组织化学染色是一种核染色,通常在黑色素瘤中阳性,但在痣中阴性。本研究调查了一组已知临床结局的 59 例棘层松解性黑色素细胞瘤中 PRAME 免疫反应性(肿瘤细胞中≥75%的核染色阳性)。我们将 PRAME 状态与(1)临床结局、(2)形态学诊断和(3)TERT 启动子突变状态进行了比较。关于临床结局,有 3 例发生转移性疾病,其中 2 例表达弥漫性阳性 PRAME 染色。在没有转移证据的 56 例病例中,有 6 例表达弥漫性阳性 PRAME 染色。形态学上,21 例诊断为黑色素瘤的病例中有 7 例(33.3%)表现为弥漫性阳性 PRAME 染色,而 38 例良性肿瘤中仅有 1 例(2.6%)。在有 TERT 启动子突变的 8 例病例中有 4 例是弥漫性 PRAME 阳性,而在没有 TERT 启动子突变的 51 例病例中有 4 例(P=0.001)。我们的结果显示,PRAME 表达与非典型棘层松解性黑色素细胞瘤的诊断、结局和 TERT 启动子突变状态之间存在统计学显著相关性,提示 PRAME 的免疫组织化学染色有助于支持可疑诊断。然而,由于偶尔会出现假阳性和假阴性结果,因此需要将其与临床和组织学发现以及其他检测结果进行相关性分析,以解释具有诊断挑战性的棘层松解性黑色素细胞瘤。