Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

doi:10.3390/genes14122134

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Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.

Genes - 27 Nov 2023

Gazzin Andrea, Leoni Chiara, Viscogliosi Germana, Borgini Federica, Perri Lucrezia, Iacoviello Matteo, Piglionica Marilidia, De Pellegrin Maurizio, Ferrero Giovanni Battista, Bartuli Andrea, Zampino Giuseppe, Buonuomo Paola Sabrina, Resta Nicoletta, Mussa Alessandro

Abstract excerpt

PIK3CA-related disorders encompass many rare and ultra-rare conditions caused by somatic genetic variants that hyperactivate the PI3K-AKT-mTOR signaling pathway, which is essential for cell cycle control. PIK3CA-related disorders include PIK3CA-related overgrowth spectrum (PROS), PIK3CA-related vascular malformations and PIK3CA-related non-vascular lesions. Phenotypes are extremely heterogeneous and overlapping....

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PMID: 38136956
DOI: 10.3390/genes14122134
PMCID: PMC10742781

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