Advances in genetic research on the pathogenesis of giant congenital melanocytic nevus
10.3760/cma.j.cn114453-20201209-00623
- VernacularTitle:巨型先天性黑色素细胞痣发病机制的遗传学研究进展
- Author:
Lu CUI
1
;
Qinghua YANG
Author Information
1. 中国医学科学院北京协和医学院整形外科医院整形七科，北京 100144
- Keywords:
Genetics;
Giant congenital melanocyte nevus;
Pathogenesis;
Candidate genes;
BRAF;
NRAS
- From:
Chinese Journal of Plastic Surgery
2022;38(4):463-468
- CountryChina
- Language:Chinese
-
Abstract:
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 cause 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.
