Similar to many mosaic syndromes, the molecular diagnosis of PROS is challenging. 3, 4 The PROS phenotypes are caused by somatic, gain-of-function PIK3CA variants. The PIK3CA-related overgrowth spectrum (PROS) is heterogeneous, including nonsyndromic macrodactyly 1 to life-threatening pleiotropic malformations and overgrowth, 2 and others. Furthermore, urine cfDNA is a candidate biomarker for nephroblastomatosis in PROS, which may be useful to refine screening guidelines for tumor risk in these patients. Conclusionĭigital droplet PCR is a sensitive molecular tool that enables low-level variant detection of PIK3CA in various tissue types, providing an alternative diagnostic method. In addition, high levels of PIK3CA variants in urine cfDNA correlated with a history of nephroblastomatosis compared with patients without renal involvement ( P < 0.05). PIK3CA variants were detected in plasma cfDNA at levels up to 0.5% in 50% of tested samples. Further analyses were performed on plasma and urine cell-free DNA (cfDNA). Methodsĭigital droplet polymerase chain reaction (ddPCR) was used to analyze tissues including urine, saliva, buccal cells, and blood, from eight patients with PROS. ![]() ![]() Molecular diagnosis of PROS is challenging due to its mosaic nature, often requiring invasive biopsies. 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.
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