Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum

被引：3

作者：

Chen, Hongrui ^{[1
]}

Gao, Wei ^{[1
]}

Liu, Hongyuan ^{[1
]}

Sun, Bin ^{[1
]}

Hua, Chen ^{[1
,2
]}

Lin, Xiaoxi ^{[1
,2
]}

机构：

[1] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Dept Plast & Reconstruct Surg, Sch Med, Shanghai, Peoples R China

[2] Shanghai Jiao Tong Univ, Shanghai Peoples Hosp 9, Dept Plast & Reconstruct Surg, Sch Med, 639 Zhizaoju Rd, Shanghai 200011, Peoples R China

来源：

ANNALS OF PLASTIC SURGERY | 2023年 / 90卷 / 5S期

关键词：

PIK3CA mutation; PIK3CA-related overgrowth spectrum; PROS; diagnosis; precise treatment; SOMATIC ACTIVATING MUTATIONS; PIK3CA CAUSE; PATHWAY; SCLEROTHERAPY; DISORDERS;

D O I：

10.1097/SAP.0000000000003389

中图分类号：

R61 [外科手术学];

学科分类号：

摘要：

Hyperactivation of the PI3K/AKT/mTOR signaling pathway caused by PIK3CA mutations is associated with a category of overgrowth syndromes that are defined as PIK3CA-related overgrowth spectrum (PROS). The clinical features of PROS are highly heterogeneous and usually present as vascular malformations, bone and soft tissue overgrowth, and neurological and visceral abnormalities. Detection of PIK3CA variants is necessary for diagnosis and provides the basis for targeted therapy for PROS. Drugs that inhibit the PI3K pathway offer alternatives to conventional therapies. This article reviews the current knowledge of PROS and summarizes the latest progress in precise treatment, providing new insights into future therapies and research goals.

引用

页码：S209 / S215

页数：7

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