Hara Natsumi, Sugino Hitomi, Saito-Sasaki Natsuko, Okada Etsuko, Sawada Yu
Dermatology, University of Occupational and Environmental Health, Kitakyushu, JPN.
Cureus. 2024 Jul 28;16(7):e65594. doi: 10.7759/cureus.65594. eCollection 2024 Jul.
Malignant melanoma is a melanocyte-derived tumor known for its aggressive clinical behavior. Melanocytes originate from the neural crest, which also gives rise to neural tissues. Malignant melanoma can occasionally exhibit neural differentiation. We report a case of a 70-year-old male with malignant melanoma exhibiting neural marker positivity in the absence of typical melanoma markers. The patient initially presented with a dark nodule on his left heel, which was confirmed as malignant melanoma through cytology. Surgical resection and lymph node dissection were performed, revealing atypical melanocytes. Despite postoperative nivolumab treatment, metastases in the brain and lungs were observed. Histological examination of the brain tumor showed neural differentiation markers (thyroid transcription factor 1 (TTF-1), cytokeratin 7 (CK7), AE1/AE3, and epidermal growth factor receptor (EGFR)) with negative melanoma markers. The patient eventually succumbed to the disease despite multiple treatments. An autopsy revealed multiple organ tumors (brain, duodenum, stomach, liver, and bile duct) negative for melanoma markers but positive for neuroendocrine markers (CD56, synaptophysin, and chromogranin A). This case suggests two possibilities: the coexistence of malignant melanoma with neuroendocrine tumors or a transformation of melanoma into a neuroendocrine phenotype. This case highlights the need for clinicians to consider the potential for melanoma to lose typical markers and transform into neuroendocrine cancer.
恶性黑色素瘤是一种源自黑素细胞的肿瘤,以其侵袭性的临床行为而闻名。黑素细胞起源于神经嵴,神经嵴也会产生神经组织。恶性黑色素瘤偶尔会表现出神经分化。我们报告了一例70岁男性恶性黑色素瘤患者,在缺乏典型黑色素瘤标志物的情况下表现出神经标志物阳性。患者最初表现为左脚跟部的一个深色结节,经细胞学检查确诊为恶性黑色素瘤。进行了手术切除和淋巴结清扫,发现了非典型黑素细胞。尽管术后使用了纳武单抗治疗,但仍观察到脑和肺转移。脑肿瘤的组织学检查显示神经分化标志物(甲状腺转录因子1(TTF-1)、细胞角蛋白7(CK7)、AE1/AE3和表皮生长因子受体(EGFR)),而黑色素瘤标志物为阴性。尽管进行了多次治疗,患者最终还是死于该病。尸检发现多个器官有肿瘤(脑、十二指肠、胃、肝和胆管),黑色素瘤标志物为阴性,但神经内分泌标志物(CD56、突触素和嗜铬粒蛋白A)为阳性。该病例提示了两种可能性:恶性黑色素瘤与神经内分泌肿瘤共存或黑色素瘤转化为神经内分泌表型。该病例强调临床医生需要考虑黑色素瘤失去典型标志物并转化为神经内分泌癌的可能性。