Cazzato Gerardo, Bellitti Emilio, Trilli Irma, Colagrande Anna, Sgarro Nicoletta, Scarcella Vincenza Sara, Lettini Teresa, Ingravallo Giuseppe, Piscitelli Domenico, Resta Leonardo, Lospalluti Lucia
Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.
Anatomic Pathology Unit, "A. Perrino" Hospital, 72100 Brindisi, Italy.
Dermatopathology (Basel). 2023 Sep 1;10(3):266-280. doi: 10.3390/dermatopathology10030035.
(1) Background: Endocrine Mucin-Producing Sweat Gland Carcinoma (EMPSGC) is a rare, low-grade, neuroendocrine-differentiated, cutaneous adnexal tumor, officially recognized by the World Health Organization (WHO) Skin Tumors Classification in 2018 as a separate entity and homologue of endocrine ductal carcinoma in situ (eDCIS)/solid papillary carcinoma of the breast. Although it is more frequent in the female sex, between 60 and 70 years old, in the peri-orbital region, EMPSGC has also been described in the male sex, in subjects under 60 and over 80, and in extra-eyelid localizations (cheek, temple, scalp), but also in extra-facial localizations (chest and scrotum). (2) Methods: We present the clinical case of a 71-year-old woman with an undated lesion of the scalp, which presented as a nodule, skin-colored, and 2.5 cm in maximum diameter. We also conduct a comprehensive literature review from 1997 to the end of 2022, consulting PubMed, Scopus, Web of Science (WoS), and Google Scholar using the following keywords: "Endocrine mucin-producing sweat gland carcinoma" and/or "EMPSGC" and/or "skin" and "cutaneous neoplasms". In addition, we followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. A total of 253 patients were recorded; 146 were females (57.7%) and 107 were males (42.2%). The vast majority of the lesions were in the eyelids (peri-ocular region), and only a minority of cases involved the cheeks, supra-auricular, retro-auricular, and occipital region, with very rare cases in the scalp, to which the present is also added. (4) Conclusions: The morphological and immunophenotypical features are essential both for the correct diagnosis and to be able to classify this lesion among the corresponding eDCIS/solid papillary carcinoma of the breast, with neuroendocrine differentiation. Recent papers have attempted to shed light on the molecular features of EMPSGC, and much remains to be conducted in the attempt to subtype the molecular profiles of these entities. Future studies with large case series, and especially with molecular biology techniques, will be needed to further add information about EMPSGC and its relationship in the PCMC spectrum.
（1）背景：内分泌黏液生成性汗腺癌（EMPSGC）是一种罕见的、低级别、具有神经内分泌分化的皮肤附属器肿瘤，在2018年被世界卫生组织（WHO）皮肤肿瘤分类正式确认为一个独立的实体，是乳腺原位内分泌导管癌（eDCIS）/实性乳头状癌的同源物。尽管它在60至70岁的女性中更为常见，且多发生于眶周区域，但EMPSGC也有在男性、60岁以下及80岁以上人群中被描述的情况，其病变部位不仅包括眼睑外（脸颊、颞部、头皮），还包括面部外（胸部和阴囊）。（2）方法：我们报告了一例71岁女性头皮部未注明日期的病变临床病例，该病变表现为一个皮肤颜色的结节，最大直径为2.5厘米。我们还对1997年至2022年底的文献进行了全面回顾，通过PubMed、Scopus、科学网（WoS）和谷歌学术搜索，使用了以下关键词：“内分泌黏液生成性汗腺癌”和/或“EMPSGC”和/或“皮肤”以及“皮肤肿瘤”。此外，我们遵循了系统评价和Meta分析的首选报告项目（PRISMA）指南。共记录了253例患者；其中146例为女性（57.7%），107例为男性（42.2%）。绝大多数病变位于眼睑（眶周区域），只有少数病例累及脸颊、耳上、耳后和枕部区域，头皮部位的病例非常罕见，本文所报告的病例也属于此类。（4）结论：形态学和免疫表型特征对于正确诊断以及将该病变归类于具有神经内分泌分化的相应乳腺eDCIS/实性乳头状癌至关重要。近期的论文试图阐明EMPSGC的分子特征，但在对这些实体的分子谱进行亚型分类方面仍有许多工作要做。未来需要开展大病例系列研究，尤其是运用分子生物学技术，以进一步补充有关EMPSGC及其在PCMC谱系中关系的信息。
