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首页> 外文期刊>Case Reports in Oncological Medicine >Metastatic Extramammary Paget’s Disease of Scrotum Responds Completely to Single Agent Trastuzumab in a Hemodialysis Patient: Case Report, Molecular Profiling and Brief Review of the Literature
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Metastatic Extramammary Paget’s Disease of Scrotum Responds Completely to Single Agent Trastuzumab in a Hemodialysis Patient: Case Report, Molecular Profiling and Brief Review of the Literature

机译：血液透析患者的阴囊转移性乳房佩吉特病完全响应曲妥珠单抗单药治疗：病例报告，分子谱分析和文献简要回顾

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摘要

Extramammary Paget’s disease (EMPD) is a rare cancer. Although EMPD is usually noninvasive and treated with local therapy, oncemetastatic the prognosis of EMPD is poor and treatment options are limited. We report a case of a complete response to single agent trastuzumab in a hemodialysis patient with metastatic Her2eu overexpressed EMPD of the scrotum. Molecular profiling of his case as well as 12 other EMPD and 8 mammary Paget disease (MPD) cases was completed and revealed multiple biomarker aberrations. Overexpression of Her2 was frequently noted (30%–40%) in both EMPD and MPD patients and when present can be effectively treated with Her2 targeted agents. Trastuzumab therapy can be safely utilized in a hemodialysis patient. In addition, multiple protein overexpression and loss were seen in EMPD including PD-1, PD-L1, PTEN, and AR as well as PIK3CA mutation. These findings may lead to possible therapeutic interventions targeting these pathways in a disease with few effective treatment options.
机译：乳腺Paget病（EMPD）是一种罕见的癌症。尽管EMPD通常是非侵入性的并且可以通过局部疗法进行治疗，但是一旦转移，EMPD的预后很差，治疗选择也受到限制。我们报告在转移性Her2 / neu阴囊过度表达EMPD的血液透析患者中​​，对单一药物曲妥珠单抗完全反应的情况。对他的病例以及其他12例EMPD和8例乳腺Paget病（MPD）病例进行了分子分析，并揭示了多个生物标志物异常。在EMPD和MPD患者中经常注意到Her2的过表达（30％–40％），并且如果存在，可以用Her2靶向药物有效治疗。曲妥珠单抗疗法可在血液透析患者中​​安全使用。此外，在EMPD中发现了多种蛋白质过表达和缺失，包括PD-1，PD-L1，PTEN和AR以及PIK3CA突变。这些发现可能导致针对疾病中这些途径的可能的治疗干预，而几乎没有有效的治疗选择。

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