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原位黑色素瘤演变为肉瘤样去分化黑色素瘤。

Evolution of a melanoma in situ to a sarcomatoid dedifferentiated melanoma.

机构信息

Department of Dermatology and Cutaneous Biology, Thomas Jefferson University Hospital, Philadelphia, Pennsylvania, USA.

Department of Dermatology, Temple University Hospital, Philadelphia, Pennsylvania, USA.

出版信息

J Cutan Pathol. 2021 Jul;48(7):943-947. doi: 10.1111/cup.14003. Epub 2021 Mar 16.

Abstract

Sarcomatoid dedifferentiated melanoma (SDDM) is a recently recognized subtype of melanoma that stains diffusely for CD10 and lacks the expression of the usual melanocytic markers including S100, SOX10, MITF, and Melan A. Advances in next-generation DNA sequencing technology have facilitated the increased recognition of this rare, aggressive spindle cell melanoma. Herein, a case of relatively early lesion of SDDM arising in association with melanoma in situ is highlighted. A 72-year-old man with a history of previously treated melanoma in situ on the face five years prior presented with a new rapidly growing lesion within the scar of the treated site. A shave biopsy of the lesion revealed a centrally located 1.8-mm deep, poorly differentiated spindle cell neoplasm in association with an adjacent recurrent melanoma in situ. The spindle cell component stained diffusely for CD10, but failed to stain for S100, SOX10, and Melan-A while the melanoma in situ expressed all three melanocytic markers. Next-generation DNA sequencing assay revealed mutations in NF1, CDKN2A, TP53, and TSC1. A diagnosis of stage 2B SDDM arising in association with melanoma in situ was established based on the clinical context and genomic assay results.

摘要

肉瘤样去分化黑色素瘤(SDDM)是一种最近才被认识的黑色素瘤亚型,其弥漫性表达 CD10,缺乏通常的黑色素细胞标志物的表达,包括 S100、SOX10、MITF 和 Melan A。下一代 DNA 测序技术的进步促进了这种罕见的侵袭性梭形细胞黑色素瘤的识别增加。本文强调了一例与原位黑色素瘤相关的相对早期 SDDM 病变。一名 72 岁男性,五年前面部有先前治疗过的原位黑色素瘤病史,在治疗部位的疤痕内出现新的快速生长的病变。病变的刮除活检显示出一个位于中央的 1.8 毫米深的低分化梭形细胞肿瘤,与相邻的复发性原位黑色素瘤有关。梭形细胞成分弥漫性表达 CD10,但未能表达 S100、SOX10 和 Melan-A,而原位黑色素瘤则表达了这三种黑色素细胞标志物。下一代 DNA 测序检测显示 NF1、CDKN2A、TP53 和 TSC1 发生突变。根据临床背景和基因组检测结果,诊断为与原位黑色素瘤相关的 2B 期 SDDM。

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