巨型先天性黑色素细胞痣简称巨痣，是一种罕见的先天畸形，以病变面积巨大的先天性黑色素细胞痣为特征，呈黑、褐色外观，可伴有毛发生长、皮肤粗糙增厚，甚至发生瘙痒、溃烂、恶变，使患者产生沉重的心理负担。由于巨痣发病的罕见性、复杂性，目前对其发病机制、遗传基础尚未形成统一严谨的共识。对基因及分子信号通路研究的深入有助于明确巨痣的病因，开拓治疗思路，推动个体化治疗的多样性。近年来巨痣的基础研究方面取得了许多突破性成果，现就巨痣发病机制的遗传学研究进展作一综述。“,”Giant congenital melanocytic nevus (GCMN) , also known as giant nevus, is a rare kind of congenital malformations. It is characterized by a large area of congenital melanocytic lesion distributed throughout the body with a dark or brown appearance, randomly accompanied by the presence of hypertrichosis, coarsening and thickening of the skin, pruritus, ulcerated lesions and even malignant transformation. It tends to place a serious psychological burden on patients. However, due to the rarity and complexity of giant nevus occurrence, no uniformly rigorous consensus on its pathogenesis and genetic basis has been reached. The in-depth study on genetics and molecular signaling pathways is helpful to clarify the etiology of giant nevi, thus expanding therapeutic pathway and promoting the diversity of individualized treatment. In recent years, many breakthrough achievements have been made in basic research. This paper reviews the progress of genetic research on the pathogenesis of giant nevus.