Jiménez-Zarazúa Omar, Vélez-Ramírez Lourdes Noemí, Alcocer-León María, Hernández-Domínguez Diego Armando, Tadeo-González Juana Elizabeth, Martínez-Rivera María Andrea, López-González Martín Daniel Alejandro, Tafoya-Rojas Sandra Xaviera Lizeth, Mondragón Jaime Daniel
Department of Internal Medicine, Hospital General León, León, Mexico.
Department of Medicine and Nutrition, Universidad de Guanajuato, Guanajuato, Mexico.
Case Rep Oncol. 2020 Jun 11;13(2):633-642. doi: 10.1159/000507729. eCollection 2020 May-Aug.
Melanoma metastasis from an unknown primary cancer has an incidence of 3.2% among melanoma patients. Furthermore, paraneoplastic neurological syndromes (PNS) are rare, occurring in 1-3% of patients with malignancies. Paraneoplastic cerebellar degeneration (PCD) is one of the classic PNS and is characterized by acute or subacute onset of ataxia and/or presence of onconeural antibodies. A 61-year-old male with ataxia, vertigo, and headache later developed dysarthria, multidirectional nystagmus, hyperactive delirium, auditory hallucinations, psychomotor agitation, and myoclonus. Toxicological, metabolic, infectious, and autoimmune etiologies were assessed and reported negative. An osteolytic lesion was observed in the right iliac crest via computed tomography (CT). A positron emission tomography-CT reported increased fluorodeoxyglucose uptake of a right iliac and right inguinal ganglion. After biopsy of the right inguinal ganglion, a BRAF mutation-positive melanoma metastasis from an occult primary cancer was diagnosed. Dermatologic, ophthalmologic, and endoscopic gastrointestinal assessment did not reveal a primary malignant melanoma. The patient's movement disorders and neuropsychiatric symptoms improved with quetiapine, prednisone, azathioprine, and cyclophosphamide. Oncological management was conducted with MAPK pathway inhibitors (i.e., dabrafenib and trametinib). Movement disorders associated with neuropsychiatric symptoms are complex to diagnose. PNS are rare and often associated with antibodies against neural antigens expressed by the tumor. The case presented above describes a patient with a BRAF-positive malignant melanoma metastasis from an occult primary associated with PCD - to the best of our knowledge, the first reported in the literature.
未知原发癌的黑色素瘤转移在黑色素瘤患者中的发生率为3.2%。此外,副肿瘤性神经综合征(PNS)很罕见,在1% - 3%的恶性肿瘤患者中出现。副肿瘤性小脑变性(PCD)是经典的PNS之一,其特征为共济失调急性或亚急性发作和/或存在肿瘤神经抗体。一名61岁男性,最初有共济失调、眩晕和头痛症状,随后出现构音障碍、多向性眼球震颤、谵妄亢进、幻听、精神运动性激越和肌阵挛。对毒理学、代谢、感染和自身免疫病因进行了评估,结果均为阴性。通过计算机断层扫描(CT)在右髂嵴发现一个溶骨性病变。正电子发射断层扫描 - CT显示右髂骨和右腹股沟淋巴结的氟脱氧葡萄糖摄取增加。对右腹股沟淋巴结进行活检后,诊断为隐匿性原发癌的BRAF突变阳性黑色素瘤转移。皮肤科、眼科和内镜下胃肠道评估均未发现原发性恶性黑色素瘤。患者的运动障碍和神经精神症状通过喹硫平、泼尼松、硫唑嘌呤和环磷酰胺得到改善。采用MAPK通路抑制剂(即达拉非尼和曲美替尼)进行肿瘤治疗。与神经精神症状相关的运动障碍诊断复杂。PNS罕见,且常与针对肿瘤表达的神经抗原的抗体相关。上述病例描述了一名患有与PCD相关的隐匿性原发BRAF阳性恶性黑色素瘤转移的患者——据我们所知,这是文献中首次报道。