表皮性转移性黑色素瘤表现为发疹性原发性黑色素瘤

IF 2.6 3区 医学 Q2 CELL BIOLOGY
Jennifer Strong, Mitchell J. Winkie, Patrick Hallaert, Scott B. Whitecar, Elaine S. Keung, Daniel Neelon, Karen G. Zeman, Michele M. Gage, William C. Schaffenburg, Meagan M. Simpson, Isaac Brownell
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引用次数: 0

摘要

我们报告使用分子谱诊断表皮性转移性黑色素瘤(EMM)的患者谁提出了爆发原发性黑色素瘤。在组织病理学上,患者的转移性病变类似于表面扩散的黑色素瘤,与独立的原发性黑色素瘤难以区分。患者的原发性黑色素瘤为IIIB期结节性黑色素瘤。尽管辅助治疗纳武单抗,患者继续形成新的浅表扩散黑色素瘤。由于怀疑EMM,对四个肿瘤组织进行了商业小组测序。比较报告的体细胞变异揭示了在所有四个病变中保守的突变谱,建立了IV期EMM的诊断。考虑到免疫治疗的进展性疾病,将治疗过渡到依可非尼加比尼美替尼,导致现有病变消退,停止新的皮肤病变形成。除了推测为原发性黑色素瘤的微转移前哨淋巴结沉积外,患者无非皮肤转移的证据。EMM应被视为同时或快速连续出现的多个浅表扩散黑色素瘤的诊断。由于EMM和原发性黑色素瘤通常在组织病理学上难以区分,下一代测序是确认克隆性和提供明确诊断的有价值的工具。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Epidermotropic Metastatic Melanoma Presenting as Eruptive Primary Melanomas

We report on the use of molecular profiling to diagnose epidermotropic metastatic melanoma (EMM) in a patient who presented with eruptive primary melanomas. On histopathology, the patient's metastatic lesions resembled superficial spreading melanomas and were indistinguishable from independent primary melanomas. The patient's presumed primary melanoma was a stage IIIB nodular melanoma. Despite treatment with adjuvant nivolumab, the patient continued to form new superficial spreading melanomas. Due to suspicion for EMM, commercial panel sequencing was performed on tissue from four tumors. Comparison of reported somatic variants revealed a mutational profile that was conserved across all four lesions, establishing a diagnosis of stage IV EMM. Considering the progressive disease on immunotherapy, treatment was transitioned to encorafenib plus binimetinib, resulting in regression of existing lesions and cessation of new skin lesion formation. Aside from micrometastatic sentinel lymph node deposits from the presumed primary melanoma, the patient had no evidence of non-cutaneous metastases. EMM should be considered as a diagnosis for multiple superficial spreading melanomas arising synchronously or in rapid succession. As EMM and primary melanomas are often histopathologically indistinguishable, next generation sequencing is a valuable tool to confirm clonality and provide a definitive diagnosis.

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来源期刊
Pigment Cell & Melanoma Research
Pigment Cell & Melanoma Research 医学-皮肤病学
CiteScore
8.90
自引率
2.30%
发文量
54
审稿时长
6-12 weeks
期刊介绍: Pigment Cell & Melanoma Researchpublishes manuscripts on all aspects of pigment cells including development, cell and molecular biology, genetics, diseases of pigment cells including melanoma. Papers that provide insights into the causes and progression of melanoma including the process of metastasis and invasion, proliferation, senescence, apoptosis or gene regulation are especially welcome, as are papers that use the melanocyte system to answer questions of general biological relevance. Papers that are purely descriptive or make only minor advances to our knowledge of pigment cells or melanoma in particular are not suitable for this journal. Keywords Pigment Cell & Melanoma Research, cell biology, melatonin, biochemistry, chemistry, comparative biology, dermatology, developmental biology, genetics, hormones, intracellular signalling, melanoma, molecular biology, ocular and extracutaneous melanin, pharmacology, photobiology, physics, pigmentary disorders
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