Vascular and lymphatic malformations represent a challenge for clinicians. The identification
of inherited and somatic mutations in important signaling pathways, including the PI3K …

Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …

The mechanistic target of rapamycin signalling pathway serves as a ubiquitous regulator of
cell metabolism, growth, proliferation and survival. The main cellular activity of the …

The mechanistic target of rapamycin (mTOR) signaling pathway is an essential regulator of
numerous cellular activities such as metabolism, growth, proliferation, and survival. The …

Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses several rare
conditions resulting from activating variants in PIK3CA. Alpelisib, a PI3Kα-selective inhibitor …

Low‐flow vascular malformations are congenital overgrowths composed of abnormal blood
vessels potentially causing pain, bleeding and obstruction of different organs. These …

The RASopathies are a group of clinically defined developmental syndromes caused by
germline variants of the RAS/mitogen‐activated protein (MAPK) cascade. The prototypic …

Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Please see the Editorial Comment by Geetika Khanna discussing this article. Please see the
Author Video associated with this article. Lymphatic anomalies comprise a spectrum of …

Cerebral cavernous malformations (CCMs) are abnormally dilated intracranial capillaries
that form cerebrovascular lesions with a high risk of hemorrhagic stroke. Recently, several …