We set out to facilitate the molecular diagnosis of patients with PIK3CA-related overgrowth spectrum (PROS), a heterogeneous somatic disorder characterized by variable presentations of segmental overgrowth, vascular malformations, skin lesions, and nephroblastomatosis, rare precursor lesions to Wilms tumor. Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies.

中文翻译：

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尿液游离 DNA 是 PIK3CA 相关过度生长谱 (PROS) 中肾母细胞瘤或肾母细胞瘤的生物标志物。

我们着手促进 PIK3CA 相关过度生长谱 (PROS) 患者的分子诊断，PROS 是一种异质体细胞疾病，其特征是节段性过度生长、血管畸形、皮肤损伤和肾母细胞瘤病（肾母细胞瘤的罕见前体病变）的不同表现。PROS 的分子诊断因其镶嵌性质而具有挑战性，通常需要侵入性活检。