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模仿游戏:黑色素瘤转移伪装成原发性乳腺肿瘤。

The Imitation Game: Melanoma Metastasis Poses as a Primary Breast Tumor.

作者信息

Al-Nusair Jowan, Wright Thomas, Gebremedhen Adamsegd, Eldib Howide, Alshal Mohamed, Tirona Maria

机构信息

Marshall University Joan C. Edwards School of Medicine, Huntington, WV, USA.

出版信息

J Investig Med High Impact Case Rep. 2025 Jan-Dec;13:23247096251345394. doi: 10.1177/23247096251345394. Epub 2025 May 31.

DOI:10.1177/23247096251345394
PMID:40448522
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12126677/
Abstract

Metastatic melanoma to the breast is a rare phenomenon often mistaken for primary breast cancer due to overlapping clinical and imaging characteristics. We report the case of a 51-year-old woman with a history of melanoma resected 7 years earlier, presenting with severe left hip pain and a 6-month history of a right breast lump. Imaging revealed extensive metastatic disease, including lesions in the femoral head, breast, lung, adrenal gland, and thoracic spine. Pathologic examination of the hip lesion obtained during total arthroplasty, as well as biopsies of the breast and lung, confirmed metastatic melanoma. Histology revealed pleomorphic tumor cells with necrosis, while immunohistochemical analysis demonstrated SOX10 and S100 positivity, confirming the diagnosis. Genetic testing identified microsatellite stability with a tumor mutational burden of 16 mutations per mega base. This case shows the importance of thorough cancer histories and the use of immunohistochemical staining to distinguish metastatic melanoma from primary breast malignancies. Despite timely diagnosis and intervention, the patient's condition deteriorated rapidly, reflecting the aggressive nature of metastatic melanoma. This case highlights the need for vigilance in patients with a history of melanoma presenting with new breast masses to ensure accurate diagnosis and appropriate management.

摘要

转移性黑素瘤累及乳腺是一种罕见现象,由于临床和影像学特征重叠,常被误诊为原发性乳腺癌。我们报告一例51岁女性病例,该患者7年前有黑素瘤切除史,现出现严重左髋部疼痛,右乳肿块已有6个月。影像学检查显示广泛转移,包括股骨头、乳腺、肺、肾上腺及胸椎的病变。全髋关节置换术中获取的髋部病变病理检查以及乳腺和肺部活检,均证实为转移性黑素瘤。组织学显示具有坏死的多形性肿瘤细胞,免疫组化分析显示SOX10和S100阳性,确诊为黑素瘤。基因检测确定为微卫星稳定,肿瘤突变负荷为每兆碱基16个突变。该病例显示了详细癌症病史及使用免疫组化染色以区分转移性黑素瘤与原发性乳腺恶性肿瘤的重要性。尽管及时诊断并进行了干预,但患者病情迅速恶化,这反映了转移性黑素瘤的侵袭性。该病例强调,对于有黑素瘤病史且出现新的乳腺肿块的患者,需保持警惕,以确保准确诊断和适当治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/bd201b2e3738/10.1177_23247096251345394-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/e0e38e331848/10.1177_23247096251345394-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/ce81a3cec4b9/10.1177_23247096251345394-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/6c8d9e923bc0/10.1177_23247096251345394-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/bd201b2e3738/10.1177_23247096251345394-fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/e0e38e331848/10.1177_23247096251345394-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/ce81a3cec4b9/10.1177_23247096251345394-fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/6c8d9e923bc0/10.1177_23247096251345394-fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e3cc/12126677/bd201b2e3738/10.1177_23247096251345394-fig4.jpg

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本文引用的文献

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Evaluating the Frequency of Mole Checks by a Dermatologist and Correlated Variables in a Global Survey across 17 Countries: HELIOS Project.评估皮肤科医生进行痣检查的频率以及 17 个国家全球调查中的相关变量:HELIOS 项目。
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Melanoma in the Breast: A Diagnostic Challenge.
乳房黑素瘤:诊断难题。
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The Diagnosis and Management of Cutaneous Metastases from Melanoma.黑色素瘤皮肤转移的诊断与处理。
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Metastatic malignant melanoma from anorectum presenting as an isolated breast tumor: A case report and literature review.肛门直肠转移性恶性黑色素瘤表现为孤立性乳腺肿瘤:病例报告及文献复习。
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Estimation of Distant Metastasis-free Survival in Trials of Adjuvant Therapy for Melanoma.黑色素瘤辅助治疗试验中无远处转移生存期的评估。
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