Advances in the genetic mechanisms of kaposiform lymphangiomatosis and the corresponding specific treatment
10.3760/cma.j.cn114453-20220621-00186
- VernacularTitle:卡波西样淋巴管瘤病的遗传学机制及相应特异性治疗
- Author:
Qingkun WAN
1
;
Changxian DONG
;
Xiaonan GUO
Author Information
1. 郑州大学人民医院 河南省人民医院血管瘤科，郑州 450003
- Keywords:
Lymphangioma;
Genetics;
Kaposiform lymphangiomatosis;
Generalized lymphatic anomaly;
Molecular targeted therapy;
Pathogenesis
- From:
Chinese Journal of Plastic Surgery
2023;39(7):782-787
- CountryChina
- Language:Chinese
-
Abstract:
Kaposiform lymphangiomatosis(KLA)is an aggressive subtype of generalized lymphatic anomaly. It is difficult to diagnose because of the lack of specificity of early symptoms. Moreover, there is still a lack of effective treatment, so the prognosis of this disease is generally poor, with a 5-year survival rate of 51% and an overall survival rate of only 34%. This article reviews the progress of the genetic studies related to the development of KLA and summarizes potential drug targets. A review of the literature found that the mutations potentially associated with KLA pathogenesis included NRAS gene mutations and CBL gene mutations. The signaling pathways involved were the PI3K-AKT-mTOR pathway and the RAS-MAPK-ERK pathway. Therefore, the key molecules PI3K/AKT/mTOR and RAS/MEK in the above signaling pathway may be used as targets for KLA-targeted therapy and develop specific treatments.
