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舌底恶性黑色素瘤伴横纹肌样和神经内分泌特征的转移:罕见病例报告及文献复习。

Base of tongue metastasis of cutaneous malignant melanoma with rhabdoid and neuroendocrine features: Report of a rare case and review of the literature.

机构信息

School of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

Department of Oral Medicine & Pathology and Hospital Dentistry, School of Dentistry, National and Kapodistrian University of Athens, Athens, Greece.

出版信息

Head Neck Pathol. 2022 Dec;16(4):1230-1241. doi: 10.1007/s12105-022-01437-6. Epub 2022 May 6.

Abstract

Metastatic malignant melanoma (MM) represents a highly aggressive cancer associated with overall poor prognosis. Various anatomic sites can be affected, including the oral cavity and the oropharynx. It may mimic other entities by assuming a variety of clinical appearances and exhibiting a plethora of microscopic variations. Herein, we present a case of a 63-year-old male with a MM metastasizing to the base of tongue, which developed 5 years after the original diagnosis and treatment of cutaneous MM of the chest and heralded its relapse; subsequently, neurological symptoms developed as a result of metastasis to the brain. Diagnostic challenges were encountered, as the tongue lesion clinically masqueraded as a pedunculated reactive lesion and microscopically displayed unusual rhabdoid and neuroendocrine features. Tumor cells expressed S-100, HMB-45, Melan-A, and SOX-10, while most cells with rhabdoid morphology were also positive for myogenin and Myo-D1. Chromogranin and synaptophysin positivity was further noticed in a subset of cells, suggestive of focal neuroendocrine differentiation. Molecular investigation revealed mutations for the BRAF V600E gene. Divergent differentiation of tumor cells may cause diagnostic pitfalls necessitating thorough immunohistochemical analysis. The presence of rhabdoid features and neuroendocrine differentiation are very uncommon, while their co-existence is extremely rare. Better characterization of such microscopic variations in MMs with evaluation of their potential biologic significance is warranted.

摘要

转移性恶性黑色素瘤(MM)是一种高度侵袭性的癌症,总体预后较差。它可以影响多种解剖部位,包括口腔和口咽。它可能通过呈现多种临床外观并表现出多种微观变化来模拟其他实体。在此,我们报告了一例 63 岁男性的病例,他患有转移性 MM,累及舌根,这是在胸部皮肤 MM 的最初诊断和治疗 5 年后发生的,预示着其复发;随后,由于脑转移,出现了神经症状。由于舌部病变在临床上伪装成有蒂反应性病变,显微镜下显示出不寻常的横纹肌样和神经内分泌特征,因此诊断遇到了挑战。肿瘤细胞表达 S-100、HMB-45、Melan-A 和 SOX-10,而大多数具有横纹肌样形态的细胞也对肌球蛋白和 Myo-D1 呈阳性。在一部分细胞中还进一步注意到嗜铬粒蛋白和突触素阳性,提示存在局灶性神经内分泌分化。分子研究显示 BRAF V600E 基因突变。肿瘤细胞的分化可能导致诊断陷阱,需要进行彻底的免疫组织化学分析。横纹肌样特征和神经内分泌分化非常罕见,而它们的共存极为罕见。有必要更好地描述 MM 中的这种微观变化,并评估其潜在的生物学意义。

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