2022年8月，解放军东部战区总医院烧伤整形科收治1例PIK3CA相关过度生长综合征(PROS)患者。患者男，15岁，自出生时即发现左下肢肥大，半年前进行性加重，同时左侧腰部出现红斑及扩张静脉(42 cm×24 cm)。MRI检查显示左、右大腿软组织不对称，左侧大腿软组织较肥厚，左腰部血管畸形，左肾囊肿。对左腰部血管畸形注射3%聚多卡醇注射液进行硬化治疗，注射量为7.1 ml。病灶组织免疫组织化学染色显示，脉管内皮细胞、表皮基底层细胞中PIK3CA、AKT、mTOR呈阳性；基因检测结果为PIK3CA基因发生c.3190_3191insA(p.H1065fs)突变。治疗后1年随访，患者腰部红斑面积减小，左下肢肥大无明显进展。该例患者通过临床表现、病理学检查及基因检测得到确诊，扩充了PROS疾病临床表型及PIK3CA基因突变谱，为研究此类疾病提供了相关临床资料。 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.
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.
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