Department of Pathology & Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
J Cutan Pathol. 2023 Dec;50(12):1116-1118. doi: 10.1111/cup.14543. Epub 2023 Oct 16.
As dermatopathologists, we routinely diagnose melanocytic nevi, melanomas, and occasionally melanocytomas in our daily clinical practice. However, it is now clearly established that the presence of melanocytic differentiation in a tumor does not necessarily indicate any of the aforementioned diagnoses. Tumors such as clear cell sarcoma, malignant melanotic nerve sheath tumor, PEComa, melanotic neuroectodermic tumor of infancy, and even certain translocation-associated renal cell carcinomas all share the common characteristic of melanin synthesis. Over the past two decades, with the advent of molecular diagnostics, there has been an explosion of new data and discoveries in this field. Examples such as CRTC1::TRIM11 cutaneous tumors and MITF pathway-activated melanocytic tumors (ACTIN::MITF and MITF::CREM) have been incorporated into the latest edition of the WHO classification of skin tumors (5th ed). In a recent issue, Alexandrescu et al. reported another case of a dermal/subcutaneous melanocytic tumor harboring a MITF::CREM1 translocation. In a separate paper within the current issue, Li et al. present a case of clear cell sarcoma with the rare EWSR1::CREM fusion, which had initially been misdiagnosed as melanoma with regional and distant metastases. We warmly welcome these two very interesting and high-quality articles to our journal, and we eagerly anticipate what the future holds for this fascinating category of tumors.
作为皮肤科病理学家,我们在日常临床实践中经常诊断黑素细胞痣、黑色素瘤,偶尔还会诊断黑素细胞瘤。然而,现在已经明确的是,肿瘤中存在黑素细胞分化并不一定意味着上述任何一种诊断。例如,透明细胞肉瘤、恶性黑色素性神经鞘瘤、PEComa、婴儿黑色素神经外胚层瘤,甚至某些易位相关性肾细胞癌,这些肿瘤都具有合成黑色素的共同特征。在过去的二十年中,随着分子诊断学的出现,该领域出现了大量新的数据和发现。例如,CRTC1::TRIM11 皮肤肿瘤和 MITF 通路激活的黑色素细胞瘤(ACTIN::MITF 和 MITF::CREM)已经被纳入最新版的《WHO 皮肤肿瘤分类》(第 5 版)。在最近的一期中,Alexandrescu 等人报告了另一个具有 MITF::CREM1 易位的真皮/皮下黑色素细胞瘤病例。在本期的另一篇论文中,Li 等人报告了一个具有罕见的 EWSR1::CREM 融合的透明细胞肉瘤病例,该病例最初被误诊为黑色素瘤,伴有局部和远处转移。我们热烈欢迎这两篇非常有趣和高质量的文章加入我们的期刊,并期待着这个迷人的肿瘤类别在未来会有怎样的发展。