非多发性神经内分泌肿瘤-ⅡB型多发性黏膜神经瘤的临床病理学特征

目的 探讨非多发性神经内分泌肿瘤(multiple endocrine neoplasia,MEN)ⅡB型多发性黏膜神经瘤(multiple mucosal neuroma,MMN)的临床病理学特征.方法 对3例非MEN-ⅡB型MMN的临床表现及病理学特点进行分析.结果 3例非MEN-ⅡB型MMN均为女性,分别为咽喉区2例、舌左缘1例.黏膜丘疹性病变行激光烧灼治疗或局部切除术,术后随访6～20个月均未见复发或伴发其他病变.病理检查见病变组织位于黏膜固有层内,无包膜,表面被覆鳞状上皮,由大小不等、不规则扭曲的神经束组成,无栅栏状排列,少量神经束具有模糊的神经束膜样结构;免疫组化检查显示肿瘤组织弥漫强阳性表达波形蛋白、S-100蛋白、髓磷脂碱性蛋白、CD56、神经纤维细丝蛋白及神经元特异性烯醇化酶,而CD34、CD117及上皮膜抗原未见表达.结论 非MEN-ⅡB型MMN诊断前需排除伴发MEN-ⅡB的可能性;由于病变组织位于黏膜组织内呈丘疹样或息肉样外观,因此需从临床及组织学角度与多种病变相鉴别.

Clinicopathological features of multiple mucosal neuroma without multiple endocrine neoplasia type IIB

Objective To investigate the clinicopathological features of multiple mucosal neuromas without multiple endocrine neoplasia type Ⅱ B ( non-MEN- Ⅱ B MMN ). Methods Three cases of non-MEN- Ⅱ B MMNs were analyzed for the clinical manifestations and histopathological characteristics. Results All the 3 cases were females, age ranging from 30 to 45 years. Two cases of them involved in the laryngopharyngeal mucosa and another one located in the left margin of the tongue. Clinically, non-MEN-ⅡB MMNs presented with uncertain foreign body sensation, itching, vomiting and causalgia in the laryngopharyngeal areas. Mucosal papular lesions were treated by laser ablation or local surgical excision.The cases were respectively followed up for 6 to 20 months and found nothing. Histological examination showed the lesions were not encapsulated and contained irregular tortuous nerve bundles with undefined perineurium in the lamina propria. There were no nuclear palisade. Immunophenotype showed tumor cells strongly positive for vimentin, S-100, myelin specific endolase, CD56, neurofilament and neuron specific endolase, uniformly negative to CD34, CD117 and epithelial membrane antigen. Conclusions Non-MEN-Ⅱ B MMN is a very rare disease and the possibility of MEN-Ⅱ B should be excluded before making diagnosis. The lesions located in the mucosal tissue with polyp-like or papular appearance, so they should be differentiated from other neoplasms or non-neoplastic lesions.