The Expression of PRAME as an Aid for Diagnosis and Evaluation of Histologic Margins of Intraepidermal Cutaneous Melanoma in Xeroderma Pigmentosum Patients.
Leonardo Ávila Ferreira, Esther Hae Ji Kim, Rafael Fantelli Stelini, Paulo Eduardo Neves Ferreira Velho, Aparecida Machado de Moraes, Thais Buffo, Maria Letícia Cintra
{"title":"The Expression of PRAME as an Aid for Diagnosis and Evaluation of Histologic Margins of Intraepidermal Cutaneous Melanoma in Xeroderma Pigmentosum Patients.","authors":"Leonardo Ávila Ferreira, Esther Hae Ji Kim, Rafael Fantelli Stelini, Paulo Eduardo Neves Ferreira Velho, Aparecida Machado de Moraes, Thais Buffo, Maria Letícia Cintra","doi":"10.1097/PAI.0000000000001210","DOIUrl":null,"url":null,"abstract":"<p><p>Xeroderma Pigmentosum (XP) is a genetic disorder characterized by photosensitivity, dyschromia, and high risk of skin cancer. From a clinical and histologic view, it can be difficult to diagnose cutaneous melanoma (CM) in XP patients and to define its resection margins. We aimed to study the role of PRAME (PReferentially Expressed Antigen in MElanoma) in differentiating intraepidermal CM from superficial atypical melanocytic proliferation of uncertain significance (SAMPUS) and evaluating the histological margins of CMs. We included XP patients. melanocitic and nonmelanocytic lesions with adjacent skin, and, as control groups, sun-damaged skin from non-XP individuals. Melanocytic lesions with a consensus diagnosis were grouped into CM, SAMPUS, or benign. The selected samples were PRAME-immunoshistochemically stained, and the ratio between immuno-positive cells/mm was recorded, according to Olds and colleagues for intraepidermal lesions. Lezcano and colleagues' method was used for intradermal lesions. Clinical data from XP patients were reviewed. All 9 patients were alive and well at the study closure, even those who developed melanoma metastases. Positive/diffuse PRAME expression was found in 29% (7/24) of intraepidermal CMs and 20% (1/5) SAMPUS samples. All 103 XP control samples and 24 adjacent lesions skin of non-XP patients were PRAME negative. This was a single-center and retrospective study, using a relatively small sample, limiting our conclusions. In XP patients' lesions, PRAME expression could help in the setting of challenging melanocytic tumors and surgical margins evaluation. It is also possible that the method can avoid overdiagnosis and, consequently, more aggressive treatment recommendation in unequivocal CM cases.</p>","PeriodicalId":48952,"journal":{"name":"Applied Immunohistochemistry & Molecular Morphology","volume":null,"pages":null},"PeriodicalIF":1.3000,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Applied Immunohistochemistry & Molecular Morphology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/PAI.0000000000001210","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/6/11 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ANATOMY & MORPHOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Xeroderma Pigmentosum (XP) is a genetic disorder characterized by photosensitivity, dyschromia, and high risk of skin cancer. From a clinical and histologic view, it can be difficult to diagnose cutaneous melanoma (CM) in XP patients and to define its resection margins. We aimed to study the role of PRAME (PReferentially Expressed Antigen in MElanoma) in differentiating intraepidermal CM from superficial atypical melanocytic proliferation of uncertain significance (SAMPUS) and evaluating the histological margins of CMs. We included XP patients. melanocitic and nonmelanocytic lesions with adjacent skin, and, as control groups, sun-damaged skin from non-XP individuals. Melanocytic lesions with a consensus diagnosis were grouped into CM, SAMPUS, or benign. The selected samples were PRAME-immunoshistochemically stained, and the ratio between immuno-positive cells/mm was recorded, according to Olds and colleagues for intraepidermal lesions. Lezcano and colleagues' method was used for intradermal lesions. Clinical data from XP patients were reviewed. All 9 patients were alive and well at the study closure, even those who developed melanoma metastases. Positive/diffuse PRAME expression was found in 29% (7/24) of intraepidermal CMs and 20% (1/5) SAMPUS samples. All 103 XP control samples and 24 adjacent lesions skin of non-XP patients were PRAME negative. This was a single-center and retrospective study, using a relatively small sample, limiting our conclusions. In XP patients' lesions, PRAME expression could help in the setting of challenging melanocytic tumors and surgical margins evaluation. It is also possible that the method can avoid overdiagnosis and, consequently, more aggressive treatment recommendation in unequivocal CM cases.
色素性皮肤病(Xeroderma Pigmentosum,XP)是一种遗传性疾病,其特点是对光敏感、色素沉着和高皮肤癌风险。从临床和组织学角度来看,XP 患者的皮肤黑色素瘤(CM)诊断和切除边缘的界定都很困难。我们的目的是研究 PRAME(黑色素瘤中的干扰表达抗原)在区分表皮内 CM 与意义不明的表皮非典型黑色素细胞增生(SAMPUS)以及评估 CM 的组织学边缘方面的作用。我们纳入了 XP 患者、黑色素细胞病变和非黑色素细胞病变以及邻近皮肤,并将非 XP 患者的日光损伤皮肤作为对照组。经一致诊断的黑色素细胞病变被分为 CM、SAMPUS 或良性。对所选样本进行 PRAME 免疫组织化学染色,并记录免疫阳性细胞/毫米之间的比率。Lezcano 及其同事的方法用于皮内病变。对XP患者的临床数据进行了回顾。在研究结束时,所有9名患者都健在,甚至包括那些发生黑色素瘤转移的患者。在29%(7/24)的表皮内CM和20%(1/5)的SAMPUS样本中发现了阳性/弥散的PRAME表达。所有103例XP对照样本和24例非XP患者的邻近病变皮肤均为PRAME阴性。这是一项单中心和回顾性研究,使用的样本相对较少,因此限制了我们的结论。在 XP 患者的病变中,PRAME 的表达有助于对具有挑战性的黑色素细胞肿瘤和手术切缘进行评估。该方法还有可能避免过度诊断,从而避免对明确的 CM 病例提出更积极的治疗建议。
期刊介绍:
Applied Immunohistochemistry & Molecular Morphology covers newly developed identification and detection technologies, and their applications in research and diagnosis for the applied immunohistochemist & molecular Morphologist.
Official Journal of the International Society for Immunohistochemisty and Molecular Morphology.