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病例报告:一名70岁患者的罕见疾病进展:转移性黑色素瘤病程中的全身黑变病和黑尿症——一项病例研究。

Case report: Exceptional disease progression in a 70-year-old patient: generalized melanosis and melanuria in the course of metastatic melanoma - a case study.

作者信息

Calik Jacek, Dzięgiel Piotr, Sauer Natalia

机构信息

Department of Clinical Oncology, Wroclaw Medical University, Wrocław, Poland.

Old Town Clinic, Wroclaw, Poland.

出版信息

Front Oncol. 2024 Jan 29;14:1332362. doi: 10.3389/fonc.2024.1332362. eCollection 2024.

Abstract

This case study documents an extraordinary disease progression in a 70-year-old patient diagnosed with metastatic melanoma. The patient's condition advanced to an unusual manifestation characterized by generalized melanosis and melanuria, a rare and foreboding complication of metastatic melanoma. The clinical presentation involved rapid-onset skin darkening, primarily affecting the face and torso, along with darkened urine, marking the onset of melanuria. Despite extensive diagnostic evaluations, including abdominal ultrasound, neck ultrasound, thoracic CT scans, and endoscopic examinations, the exact metastatic sites remained elusive, demonstrating the diagnostic challenges associated with this condition. Laboratory tests revealed abnormal hematological and biochemical markers, along with elevated S100 protein levels, indicating disease progression. The patient underwent a surgical skin biopsy that confirmed the diagnosis of metastatic melanoma, leading to a multidisciplinary approach to treatment. Following this, the patient-initiated chemotherapy with dacarbazine (DTIC). Regrettably, this was necessitated by the absence of reimbursement for BRAF and MEK inhibitors as well as immunotherapy, and it subsequently led to rapid disease progression and a decline in the patient's clinical condition. The patient's condition further complicated with erysipelas and increased distress, ultimately leading to their unfortunate demise. This case highlights the aggressive nature of generalized melanosis, characterized by a rapid clinical course, substantial pigmentation, and limited response to conventional chemotherapy. Importantly, the patient had a BRAF mutation, emphasizing the urgency of exploring alternative treatment strategies. Patients with a BRAF mutation are excellent candidates for BRAF and MEK inhibitor treatment, potentially allowing them to extend their lifespan if this therapy were available. The challenges encountered in diagnosing, managing, and treating this aggressive form of metastatic melanoma underline the need for early detection, tailored therapeutic approaches, and ongoing research efforts to improve patient outcomes in such cases.

摘要

本病例研究记录了一名70岁转移性黑色素瘤患者病情的异常进展。患者病情发展为一种不寻常的表现,其特征为全身黑变病和黑尿症,这是转移性黑色素瘤罕见且不祥的并发症。临床表现包括迅速出现的皮肤变黑,主要影响面部和躯干,同时伴有尿液变黑,标志着黑尿症的开始。尽管进行了广泛的诊断评估,包括腹部超声、颈部超声、胸部CT扫描和内镜检查,但确切的转移部位仍难以确定,这显示了与该病症相关的诊断挑战。实验室检查显示血液学和生化指标异常,同时S100蛋白水平升高,表明疾病进展。患者接受了手术皮肤活检,确诊为转移性黑色素瘤,从而采取了多学科治疗方法。此后,患者开始使用达卡巴嗪(DTIC)进行化疗。遗憾的是,由于BRAF和MEK抑制剂以及免疫疗法未纳入医保报销范围,只能采取这种治疗方式,随后导致疾病迅速进展,患者临床状况恶化。患者病情因丹毒而进一步复杂化,痛苦加剧,最终不幸死亡。本病例突出了全身黑变病的侵袭性,其特点是临床病程迅速、色素沉着严重以及对传统化疗反应有限。重要的是,该患者存在BRAF突变,这凸显了探索替代治疗策略的紧迫性。携带BRAF突变的患者是BRAF和MEK抑制剂治疗的理想候选者,如果能采用这种疗法,可能会延长其生存期。在诊断、管理和治疗这种侵袭性转移性黑色素瘤过程中遇到的挑战强调了早期检测、量身定制治疗方法以及持续开展研究工作以改善此类病例患者预后的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1df5/10859400/391f81dde704/fonc-14-1332362-g001.jpg

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