下一代测序在诊断转移性黑色素瘤中的应用:病例报告。

IF 1.6 4区 医学 Q3 DERMATOLOGY Journal of Cutaneous Pathology Pub Date : 2024-05-16 DOI:10.1111/cup.14660
Saul Turcios Escobar, Richard Yang, Kelly C. Nelson, Jeffrey E. Gershenwald, Hussein Tawbi, Phyu P. Aung, Sapna P. Patel, Carlos A. Torres-Cabala
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引用次数: 0

摘要

在常规皮肤科检查中,发现一名 77 岁的男性右侧上背部有一个坚实的蓝色皮下结节。他的既往病史包括原发不明的转移性黑色素瘤,累及右侧和左侧腋窝淋巴结,曾接受过伊匹单抗/尼伐单抗治疗并获得完全应答,后来又患上了原发性葡萄膜黑色素瘤。皮下结节位于他之前因转移性黑色素瘤留下的右侧腋窝疤痕附近。切除结节后发现,真皮中层和深层出现了由纺锤形和上皮样非典型细胞组成的丛状肿瘤,其中混杂着大量嗜黑素细胞。中央出现坏死。免疫组化研究显示,肿瘤细胞的HMB45呈弥漫阳性,BAP1和p16保留表达。肿瘤细胞的PRAME、β-catenin核表达、LEF1和BRAF V600E均为阴性。分子研究显示肿瘤细胞存在 BAP1 和 GNA11 体细胞突变,这与他之前患黑色素瘤时的情况不同。总之,这些数据被解释为葡萄膜黑色素瘤的转移,而不是对免疫疗法完全应答后的转移性皮肤黑色素瘤的复发。本病例强调了在具有挑战性的临床情况下,分子研究对明确诊断的重要性,尤其是在组织病理学、免疫组化和分子研究不一致的情况下。应综合考虑临床、组织病理学和分子特征。
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Utility of next-generation sequencing in the diagnosis of metastatic melanoma: A case report

During routine dermatologic examination, a 77-year-old male was noted to have a firm blue subcutaneous nodule on his right lateral upper back. His past medical history included metastatic melanoma of unknown primary involving right and left axillary lymph nodes, treated with ipilimumab/nivolumab with complete response, and subsequent primary uveal melanoma. The subcutaneous nodule was located near his previous right axillary scar for metastatic melanoma. Excision of the nodule showed a plexiform neoplasm involving mid and deep dermis composed of spindle and epithelioid atypical cells admixed with numerous melanophages. Central necrosis was present. Immunohistochemical studies revealed the tumor cells to be diffusely positive for HMB45, with retained expression of BAP1 and p16. The tumor cells were negative for PRAME, nuclear expression of β-catenin, LEF1, and BRAF V600E. Molecular studies demonstrated BAP1 and GNA11 somatic mutations, a profile different from that exhibited by his prior melanoma. Collectively, these data were interpreted as a metastasis from uveal melanoma and not a recurrence of his metastatic likely cutaneous melanoma after complete response to immunotherapy. This case emphasizes the importance of molecular studies for definitive diagnosis in challenging clinical situations, especially when there is discordance among histopathological, immunohistochemical, and molecular studies. Integration of clinical, histopathological, and molecular features is warranted.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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