鼻腔黏膜恶性黑色素瘤6例临床病理学及分子特征分析

Clinicopathological and molecular characteristics of nasal mucosal malignant melanoma:Analysis of six cases

目的探讨原发性鼻腔恶性黑色素瘤的临床病理及分子特点。方法回顾性分析海南医学院第一附属医院2014年6月至2023年10月期间诊断的病例6例原发性鼻腔亚性黑色素瘤患者,分析其临床特征,组织学形态,免疫表型及分子检测结果。结果男性患者3例,女性3例,患者年龄43~70岁(平均58.6岁,中位年龄61.5岁),左侧鼻腔2例,右侧鼻腔3例,鼻中隔1例,伴有鼻窦受累1例;就诊时2例有颈部淋巴结转移。镜下所见,肿瘤细胞呈圆形、断梭形或多边型,核仁明显,呈弥漫散在分布或巢团状排列,仅1例可见黑色素。免疫组化显示,SOX10、S100、HMB45、MelanA阳性,Ki-67增殖指数介于30%~60%之间。分子检测:4例病例进行了分子检测,其中2例检测出NRAS的2号外显子突变,1例C-KIT扩增,1例BRAF-V600E突变。结论原发性鼻黏膜恶性黑色素瘤好发于中年以上人群,发病没有明显的性别倾向,临床上常表现为鼻息肉,影像学检查的鉴别诊断价值有限。本病的诊断主要依赖于病理检查及免疫组化检测。分子突变检测有助于临床治疗策略的选择,应推荐所有患者进行基因检测。

Objective To investigate the clinicopathological characteristics of primary nasal malignant melanoma.Methods A retrospective analysis was conducted on six cases of malignant melanoma of the nasal mucosa diagnosed at the First Affiliated Hospital of Hainan Medical University from June 2014 to October 2023.The clinical features,histological morphology,immunophenotype,and molecular detection results were analyzed.Results There were three male and three female patients,with an age range of 43-70 years(mean age:58.6 years,median age:61.5 years).Two cases located in the left nasal cavity,three cases in the right nasal cavity,and one case in the nasal septum.One case was accompanied by sinus involvement.Two cases had cervical lymph node metastasis at the time of diagnosis.Histologically,the tumor cells showed a round or spindle shape,distinct nucleoli,diffuse or clustered distribution,and melanin pigments were visible in one case.Immunohistochemistry showed that SOX10,S100,HMB45,and MelanA were positive,and the Ki-67 proliferation index ranged between 30%and 60%.Four cases were detected to molecular change,of which two cases were found to mutated at NRAS 2 exon,1 case had C-KIT amplification,and 1 case had BRAF-V600E mutation.Conclusion Primary nasal mucosal melanoma is more common in middle-aged and older people.There is no obvious gender predilection in the incidence of this disease.Clinically,it often manifests as nasal polyps,and the diagnostic value of imaging examination is limited.The diagnosis of this disease mainly depends on pathological and immunohistology analysis.Molecular mutation detection helps in selecting clinical treatment strategies,and genetic testing should be recommended for all patients.