Iliesiu Andreea, Nimigean Victor, Tapoi Dana Antonia, Costache Mariana
Department of Pathology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania.
Department of Pathology, University Emergency Hospital, 050098 Bucharest, Romania.
Diagnostics (Basel). 2025 May 28;15(11):1357. doi: 10.3390/diagnostics15111357.
Cutaneous melanomas sometimes display unusual histopathological features, reminiscent of various other malignancies, either primary or metastatic. However, due to the highly aggressive nature of cutaneous melanomas, an accurate and timely diagnosis is mandatory. This requires extensive histopathological and immunohistochemical analyses and molecular tests, if needed. In this respect, we present two cases of primary cutaneous melanomas exhibiting rhabdoid features and genuine divergent rhabdomyosarcomatous differentiation confirmed by immunoreactivity for myogenin and loss of positivity for some melanocytic markers. We discuss the diagnosis approach for these particularly rare entities, highlighting the most useful immunohistochemical panel. Additionally, we also provide an extensive review of all the previously reported similar lesions, focusing on the epidemiological, histopathological, immunohistochemical and molecular features, as well as discussing the prognostic and treatment options for rhabdomyosarcomatous cutaneous melanomas. These rare cases of primary cutaneous melanomas with rhabdomyosarcomatous differentiation underscore the diagnostic challenges posed by such unusual histopathological variants. In order to establish the correct diagnosis a comprehensive immunohistochemical workup, including both melanocytic and myogenic markers, is required. These findings are supported by a detailed review of the literature, emphasizing the importance of recognising these rare melanoma subtypes for providing the appropriate prognostic assessment, and therapeutic management.
皮肤黑色素瘤有时会呈现出不寻常的组织病理学特征，让人联想到各种其他原发性或转移性恶性肿瘤。然而，由于皮肤黑色素瘤具有高度侵袭性，准确及时的诊断至关重要。这需要进行广泛的组织病理学和免疫组织化学分析，必要时还需进行分子检测。在这方面，我们报告了两例原发性皮肤黑色素瘤病例，其具有横纹肌样特征，并通过肌生成素免疫反应性及某些黑素细胞标志物阳性缺失证实存在真正的横纹肌肉瘤分化。我们讨论了这些特别罕见实体的诊断方法，突出了最有用的免疫组织化学检测组合。此外，我们还对所有先前报道的类似病变进行了广泛综述，重点关注流行病学、组织病理学、免疫组织化学和分子特征，并讨论了横纹肌肉瘤样皮肤黑色素瘤的预后和治疗选择。这些原发性皮肤黑色素瘤伴横纹肌肉瘤分化的罕见病例凸显了此类不寻常组织病理学变异所带来的诊断挑战。为了做出正确诊断，需要进行全面的免疫组织化学检查，包括黑素细胞和肌源性标志物。这些发现得到了文献详细综述的支持，强调了识别这些罕见黑色素瘤亚型对于提供适当的预后评估和治疗管理的重要性。
