中耳胆脂瘤的遗传学研究进展

Advances in the genetics of middle ear cholesteatoma

中耳胆脂瘤是一类位于鼓室和/或乳突内的团块,由角化的鳞状上皮细胞、上皮下的结缔组织以及角化碎片构成,伴/不伴炎症反应。临床表现主要为耳流脓和听力下降,当侵袭周围组织结构时则可产生眩晕、周围性面瘫、颅内感染等一系列颅内外并发症,甚至危及生命。手术是目前唯一有效的治疗方式。其病因及发病机制仍未完全清楚。随着全外显子测序等新一代测序技术的发展,中耳胆脂瘤的遗传学研究取得了一些突破性进展。近年来,关于胆脂瘤的家族聚集性、基因突变及其与综合征的关系的相关研究越来越多,本文将对上述内容进行综述,从而为中耳胆脂瘤的非手术治疗、药物研发提供参考。

Cholesteatoma of the middle ear is a mass formed by the keratinizing squamous epithelium of the tympanic cavity and/or mastoid and subepithelial connective tissue and keratin debris,with/without a surrounding inflammatory reaction.When invading the surrounding tissue structures with mainly clinical manifestations of ear discharge and hearing loss,it can produce a series of intracranial and extracranial complications such as vertigo,peripheral facial paralysis,intracranial infections and even life-threatening.Surgery remains the only available treatment now.The etiology and pathogenesis of middle ear cholesteatoma are not entirely clear.With the development of whole exon sequencing(WES)and other new generation sequencing technology,some breakthroughs have been made in the genetics of middle ear cholesteatoma.In recent years,there are more and more studies on the family aggregation and gene mutation of cholesteatoma,and the relationship between cholesteatoma and syndrome.This article will review the above for the sake of the non-surgical treatment and drug development of middle ear cholesteatoma.