Solitary Mucosal Neuroma of the Hard Palate Without Multiple Endocrine Neoplasia Type 2B: A Rare Non-syndromic Case Report and Literature Review

孤立性硬腭黏膜神经瘤(无2B型多发性内分泌肿瘤):一例罕见的非综合征性病例报告及文献综述

阅读:4

Abstract

Mucosal neuromas are benign proliferations of peripheral nerves that most commonly occur as part of multiple endocrine neoplasia type 2B (MEN2B), a hereditary syndrome associated with germline mutations of the RET proto-oncogene. MEN2B is characterized by mucosal neuromas, medullary thyroid carcinoma, pheochromocytoma, intestinal ganglioneuromatosis, and marfanoid habitus. Oral mucosal neuromas often represent the earliest manifestation of the syndrome and therefore have important diagnostic significance. However, isolated mucosal neuromas occurring in the absence of MEN2B are extremely rare, particularly within the oral cavity. This case report describes a 25-year-old female who presented with a solitary, firm, painless mass on her right posterior hard palate. Radiographic examination revealed no osseous involvement. Following an excisional biopsy, microscopic examination revealed unencapsulated proliferation of tortuous and haphazardly arranged neural bundles within a collagenous stroma. Immunohistochemical analysis demonstrated strong and diffuse positivity for S-100 protein, confirming the diagnosis of mucosal neuroma. Comprehensive systemic evaluation, including endocrine assessment, biochemical testing, and thyroid ultrasonography, revealed no evidence of MEN2B. The patient demonstrated satisfactory postoperative healing with no recurrence during eight months of follow-up. Thus, this case highlights an exceedingly rare presentation of a solitary mucosal neuroma at an unusual site occurring in the absence of MEN2B. While mucosal neuromas are typically pathognomonic for MEN2B, solitary forms are rare, particularly when located on the hard palate. This report adds to the limited literature on non-syndromic oral mucosal neuromas and emphasizes the importance of clinicopathologic correlation and long-term surveillance.

特别声明

1、本页面内容包含部分的内容是基于公开信息的合理引用;引用内容仅为补充信息,不代表本站立场。

2、若认为本页面引用内容涉及侵权,请及时与本站联系,我们将第一时间处理。

3、其他媒体/个人如需使用本页面原创内容,需注明“来源:[生知库]”并获得授权;使用引用内容的,需自行联系原作者获得许可。

4、投稿及合作请联系:info@biocloudy.com。