Department of Pathology and Immunology, School of Medicine, Washington University Medical Center, St. Louis, Missouri, USA.
Pathology Service, Dermatopathology Unit, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts, USA.
J Cutan Pathol. 2021 Jul;48(7):948-953. doi: 10.1111/cup.14005. Epub 2021 Mar 21.
Melanosis, clinically presenting as a benign macular hyperpigmentation, consists of increased pigmentation (melanotic or melanocytic) either in the mucosal epithelial cells or as subepithelial pigment-laden macrophages. On the other hand, primary sinonasal mucosal melanoma (SNMM) is a rare disease with poor prognosis and high rates of local recurrence and metastasis. We report follow-up on a previously presented case of a 53-year-old man with recurrent clinical melanosis that progressed from histopathological melanocytic hyperplasia to melanoma in situ over a period of 4.8 years (Yao et al. Allergy Rhinol (Providence), 2016;7(3):164-167). The patient experienced multiple recurrences and local spread despite multiple extensive surgeries. We now report that this patient ultimately developed bilateral invasive SNMM and died with metastatic melanoma. Molecular analysis of the invasive melanoma revealed ALK rearrangement, specifically an EML4-ALK fusion, which represents the first report of this particular genetic variant in mucosal melanoma.
黑变病，临床上表现为良性黄斑色素沉着，是由黏膜上皮细胞或上皮下色素沉着的巨噬细胞中色素增加（黑色素或黑素细胞）引起的。另一方面，原发性鼻腔鼻窦黏膜黑色素瘤（SNMM）是一种罕见的疾病，预后差，局部复发和转移率高。我们对先前报道的一例 53 岁男性患者进行了随访，该患者在 4.8 年内从组织病理学上的黑素细胞增生发展为原位黑色素瘤，表现为复发性临床黑变病（Yao 等人，Allergy Rhinol（Providence），2016；7（3）：164-167）。尽管进行了多次广泛的手术，患者仍经历了多次复发和局部扩散。我们现在报告说，这名患者最终发展为双侧侵袭性 SNMM，并死于转移性黑色素瘤。侵袭性黑色素瘤的分子分析显示存在 ALK 重排，特别是 EML4-ALK 融合，这是黏膜黑色素瘤中首次报道这种特定的遗传变异。
