PIK3CA-related overgrowth syndrome: a case report
10.3760/cma.j.cn114453-20231122-00234
- VernacularTitle:PIK3CA相关过度生长综合征1例
- Author:
Fei XIONG
1
;
Shiqi WANG
;
Siming YUAN
Author Information
1. 东南大学医学院，南京 210000
- Keywords:
Vascular malformations;
PIK3CA-related overgrowth syndrome;
Sclerotherapy;
Frameshift mutation
- From:
Chinese Journal of Plastic Surgery
2024;40(1):94-98
- CountryChina
- Language:Chinese
-
Abstract:
In August 2022, a patient diagnosed with PIK3CA-related overgrowth syndrome (PROS) was admitted to the Department of Burn and Plastic Surgery of the General Hospital of Eastern Theater Command. A 15-year-old male patient presented with overgrowth of the left lower limb since birth, which had progressive aggravation six months ago, accompanied by erythema and dilated veins (42 cm ×24 cm) on the left waist. MRI showed that the soft tissue of the left and right thighs was asymmetrical. There was soft tissue hypertrophy of the left thigh, vascular malformation on the left waist and a left renal cyst. The vascular malformations on the left waist were treated by sclerotherapy with 3% polydocaol injection, for which the injection volume of was 7.1 ml. Immunohistochemistry of the pathological tissue showed that PIK3CA, AKT and mTOR were positive in vascular endothelial cells and epidermal basal cells. The genetic testing suggested that there was a mutation at c. 3190_3191insA (p.H1065fs) in PIK3CA gene. On the first year after the interventional sclerotherapy, the area of erythema decreased and the overgrowth of the left lower limb did not progress significantly. This case was diagnosed by clinical manifestations, pathological examination and genetic testing, which expanded the clinical phenotype of PROS and PIK3CA mutation spectrum, providing relevant clinical data for the study of this diseases.
