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
{"title":"表皮性转移性黑色素瘤表现为发疹性原发性黑色素瘤","authors":"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","doi":"10.1111/pcmr.70037","DOIUrl":null,"url":null,"abstract":"<div>\n \n <p>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.</p>\n </div>","PeriodicalId":219,"journal":{"name":"Pigment Cell & Melanoma Research","volume":"38 4","pages":""},"PeriodicalIF":2.6000,"publicationDate":"2025-07-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Epidermotropic Metastatic Melanoma Presenting as Eruptive Primary Melanomas\",\"authors\":\"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\",\"doi\":\"10.1111/pcmr.70037\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n <p>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.</p>\\n </div>\",\"PeriodicalId\":219,\"journal\":{\"name\":\"Pigment Cell & Melanoma Research\",\"volume\":\"38 4\",\"pages\":\"\"},\"PeriodicalIF\":2.6000,\"publicationDate\":\"2025-07-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pigment Cell & Melanoma Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/pcmr.70037\",\"RegionNum\":3,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pigment Cell & Melanoma Research","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/pcmr.70037","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
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.
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