Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood
as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …

Mutations that activate growth factor signaling often drive cancer growth. Many also arise in
isolation, causing developmental growth disorders. PIK3CA, that encodes a catalytic subunit …

PIK3CA-related overgrowth syndrome (PROS) is a genetic disorder caused by somatic
mosaic gain-of-function mutations of PIK3CA. Clinical presentation of patients is diverse and …

Purpose PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are
treatment challenges. Traditionally, these conditions require multiple invasive interventions …

Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving
facial muscles. The underlying cause and the mechanism of disease progression are …

PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …

Vascular malformations are anomalies in vascular development that portend a significant
risk of hemorrhage, morbidity and mortality. Conventional treatments with surgery …

Extensive venous malformations involving limbs severely impact quality of life, mostly due to
chronic pain and functional limitations. But patients can also display coagulopathy with …

Sporadic venous malformations are genetic conditions primarily caused by somatic gain-of-
function mutation of PIK3CA or TEK, an endothelial transmembrane receptor signaling …

Recent advances in genetic sequencing are transforming our approach to rare-disease
care. Initially identified in cancer, gain-of-function mutations of the PIK3CA gene are also …