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PRAME在原发性皮肤去分化和转分化黑色素瘤中的诊断效用

The Diagnostic Utility of PRAME in Primary Cutaneous Dedifferentiated and Transdifferentiated Melanomas.

作者信息

Choy Audrey, Wang Alex, Thayaparan Ganesha K, Beaumont Luke, Williams Richard, Diab Sara, Tzaikou George, Ajmal Ayesha, Nirenberg Alexander

机构信息

Department of Anatomical Pathology, Dorevitch Pathology, Heidelberg, Victoria, Australia.

Department of Anatomical Pathology, Dorevitch Pathology, Albury, New South Wales, Australia.

出版信息

J Cutan Pathol. 2025 Mar;52(3):212-219. doi: 10.1111/cup.14783. Epub 2025 Jan 2.

Abstract

Melanomas show a wide spectrum of clinical, morphological, immunohistochemical, and molecular features, which can impact treatment and prognosis. Dedifferentiated and transdifferentiated melanomas (DTM) are defined as melanomas which have lost conventional melanocytic morphologic and immunohistochemical features, showing sarcomatous morphology and/or immunohistochemical staining of other cell lineages, and as such, can be mistaken for other entities such as collision tumors and undifferentiated spindle cell tumors. In this series, we highlight the utility of preferentially expressed antigen in melanomas (PRAME) in diagnosing undifferentiated/dedifferentiated melanomas. Case 1 is a lentigo maligna melanoma with dedifferentiation on the scalp of an 85-year-old. Case 2 is a desmoplastic melanoma with leiomyosarcomatous transdifferentiation on the cheek of an 80-year-old. Case 3 is a desmoplastic melanoma with rhabdomyosarcomatous transdifferentiation arising from the temple of an 88-year-old. In all cases, conventional melanocytic immunohistochemical markers were positive in the conventional melanoma and negative in the dedifferentiated/transdifferentiated areas. However, PRAME was positive in both the conventional and dedifferentiated areas with varying intensity. Although PRAME immunoreactivity can be seen in other malignant spindle cell tumors, this study highlights the potential utility of PRAME immunohistochemistry when considering a diagnosis of DTM.

摘要

黑色素瘤具有广泛的临床、形态学、免疫组织化学和分子特征,这些特征会影响治疗和预后。去分化和转分化黑色素瘤(DTM)被定义为失去了传统黑素细胞形态学和免疫组织化学特征、表现出肉瘤形态和/或其他细胞谱系免疫组织化学染色的黑色素瘤,因此可能会被误诊为其他实体,如碰撞瘤和未分化梭形细胞瘤。在本系列研究中,我们强调了黑色素瘤优先表达抗原(PRAME)在诊断未分化/去分化黑色素瘤中的作用。病例1是一名85岁患者头皮上的伴有去分化的恶性雀斑样痣黑色素瘤。病例2是一名80岁患者脸颊上的伴有平滑肌肉瘤样转分化的促纤维增生性黑色素瘤。病例3是一名88岁患者颞部出现的伴有横纹肌肉瘤样转分化的促纤维增生性黑色素瘤。在所有病例中,传统黑素细胞免疫组织化学标志物在传统黑色素瘤区域呈阳性,而在去分化/转分化区域呈阴性。然而,PRAME在传统区域和去分化区域均呈阳性,强度有所不同。尽管在其他恶性梭形细胞瘤中也可见PRAME免疫反应性,但本研究强调了在考虑诊断DTM时PRAME免疫组织化学的潜在作用。

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