Lateralized/segmental overgrowth disorders (LOs) encompass a heterogeneous group of
congenital conditions with excessive body tissue growth. Documented molecular alterations …

Somatic and germline PI3K‐AKT‐mTOR pathway pathogenic variants are involved in
several segmental overgrowth phenotypes such as the PIK3CA‐related overgrowth …

Recurrent missense mutations of the PIK3CA oncogene are among the most frequent
drivers of human cancers. These often lead to constitutive activation of its product p110α, a …

DISCUSSION In recent years with the progression of genetic research, there has been a
paradigm shift in both oncology and congenital research toward a focus on targeted genetic …

Somatic variants have been well described in tumorigenesis; however, they are only
recently appreciated in other human disorders, such as mosaic overgrowth syndromes …

Overgrowth syndromes represent a group of diseases defined by Tatton-Brown and
Weksberg as a “global or regional excess growth compared with an equivalent body part or …

The phosphatidylinositol‐3‐kinase (PI3K)/AKT/mTOR signaling pathway plays an essential
role in regulation of normal cell growth, metabolism, and survival. Somatic activating …

Purpose PIK3CA-related overgrowth spectrum (PROS) encompasses a range of debilitating
conditions defined by asymmetric overgrowth caused by mosaic activating PIK3CA variants …

We report a patient with a germline RIT1 and a mosaic PIK3CA variant. The diagnosis of the
RASopathy was confirmed by targeted sequencing following the identification of transient …

Mosaic RASopathies are an emerging group of disorders characterized by mosaic or post-
zygotic activating mutations in genes of the RAS/MAPKinase signaling pathway. The …