恶性黑色素瘤的临床病理特征与鉴别诊断

摘要

Objective To investigate the clinical pathological characteristics,immunohistochemistry,diagnosis and differential diagnosis,treatment and prognosis of malignant melanoma.Methods The data of 5 cases were reviewed.Results Out of 5 patients,1 patient was female and 4 were males,aged 48 from 92 years (mean age of 67.2 years).Tumors originated from different sites,such as nose,skin and esophagus.Microscopically,the tumor cells were various in morphology from spindle,epithelioid,nevus alike cells to foam alike cells,arranged in nests,stripes or loose nets.Immunohistochemical stain showed positive expressions in S-100,HMB45 in some extent,Melan-A or Vimentin,individually expression CD56 and CgA.However,the levels of CK,EMA,CEA,Desmin,NSE,LCA,CD3,CD20,SMA,MyoD 1,Myogenin and Syn were negatively expressed.Braf and C-kit gene tests were applied in all cases,however,only one case was detected with Braf gene V600E mutation.No case was found with C-kit gene mutations.Conclusion Malignant melanoma is a kind of highly invasive tumor,which is characterized by highly changed morphology and easily misdiagnosis or missed diagnosis.Immunohistochemistry and genetic testing are of great significance in diagnosis and targeted therapy.%目的 探讨恶性黑色素瘤的临床病理特征、免疫表型、诊断与鉴别诊断、治疗与预后.方法 复习5例恶性黑色素瘤的临床病理资料.结果 本组5例,女性1例,男性4例,年龄48 ～92岁,平均年龄67.2岁.肿瘤起源于鼻腔、皮肤及食管等不同部位.瘤细胞形态多样,呈梭形、上皮样、痣细胞样或泡沫样,排列成巢团状、条索状或疏松网状.免疫组化示瘤细胞表达S-100,不同程度表达HMB45、Melan-A与Vimentin,个别表达CD56和CgA.CK、EMA、CEA、Desmin、NSE、LCA、CD3、CD20、SMA、MyoD 1、Myogenin、Syn等均阴性.5例肿瘤均行Braf、C-kit基因检测,其中1例发现Braf基因V 600E突变,C-kit基因未发现突变.其他肿瘤均未发现Braf与C-kit基因突变.结论 恶性黑色素瘤是一种高度侵袭性肿瘤,其组织学形态变化大,容易误诊或漏诊.免疫组化标记及基因检测对于明确诊断及指导靶向治疗具有重要意义.