A <i>PIK3CA</i> mutation in an acquired capillary malformation

Rosenthal, Jaclyn; Sibbald, Cathryn; Jen, Melinda; Deardorff, Matthew A.; Treat, James R.

doi:10.1111/pde.14068

Cited by 1 publication

(2 citation statements)

References 6 publications

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“…PIK3CA-related CMs have been largely described as part of some PROS, such as MCAP and DCMO, where they are largely caused by activating non-hotspot mutations in PIK3CA 53,93 . Also, a recent case with an acquired capillary malformation (after birth) associated with V344M PIK3CA variant has been reported 150 . Overall, these lesions tend to be largely cosmetic; thereby indicating that they are less severe than LMs or VMs.…”

Section: Capillary Malformations (Cms): the Least Pathogenic Vascular...mentioning

confidence: 99%

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When, where and which PIK3CA mutations are pathogenic in congenital disorders

Angulo‐Urarte

Graupera

2022

Nat Cardiovasc Res

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PIK3CA encodes for 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 overgrowth, known as the PIK3CA-related overgrowth spectrum (PROS), with the vasculature frequently involved. In PROS, PIK3CA mutations arise postzygotically during embryonic development leading to a mosaic distribution resulting in a variety of phenotypic features. A clear skewed pattern of overgrowth favouring some mesoderm and ectoderm-derived tissues is observed but is not understood. Here, we summarize current knowledge on the determinants of PIK3CA-related pathogenesis in PROS, including intrinsic factors such as cell lineage susceptibility and PIK3CA variant bias and extrinsic factors which refers to the environmental modifiers. Gaining biological understanding of PIK3CA mutations in PROS will contribute to unravel the onset and progression of these conditions, and ultimately impact on their treatment. Given that PIK3CA mutations are similar in PROS and cancer, deeper insight into one will also inform about the other.PIK3CA encodes for p110α, one of the four class I phosphatidylinositol 3-kinase (PI3K) catalytic subunits. p110α is an obligate heterodimer with a p85-type regulatory subunit, with no evidence of the existence of p85-free p110α [1][2][3][4] . For simplicity, we will use

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Section: Capillary Malformations (Cms): the Least Pathogenic Vascular...mentioning

confidence: 99%

“…PIK3CA variants in PROS. Summary of the documented mutations in PIK3CA that have been found in 1173 PROS patients12,[42][43][44][45][46][47][48][49][50][51][52][53][54][55][56][57][58]61,[65][66][67][68][69][72][73][74]76,[78][79][80][89][90][91][93][94][95]108,136,150,160,161, . Two patients showed two different mutations in PIK3CA.3 B Figure BOX1.…”

mentioning

confidence: 99%

When, where and which PIK3CA mutations are pathogenic in congenital disorders

Angulo‐Urarte

Graupera

2022

Nat Cardiovasc Res

View full text Add to dashboard Cite

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A PIK3CA mutation in an acquired capillary malformation

Cited by 1 publication

References 6 publications

When, where and which PIK3CA mutations are pathogenic in congenital disorders

When, where and which PIK3CA mutations are pathogenic in congenital disorders

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