Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

doi:10.1084/jem.20212148

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Article

Treatment of two infants with PIK3CA-related overgrowth spectrum by alpelisib.

The Journal of experimental medicine - 7 Mar 2022

Morin Gabriel, Degrugillier-Chopinet Caroline, Vincent Marie, Fraissenon Antoine, Aubert Hélène, Chapelle Célia, Hoguin Clément, Dubos François, Catteau Benoit, Petit Florence, Mezel Aurélie, Domanski Olivia, Herbreteau Guillaume, Alesandrini Marie, Boddaert Nathalie, Boutry Nathalie, Broissand Christine, Han Tianxiang Kevin, Branle Fabrice, Sarnacki Sabine, Blanc Thomas, Guibaud Laurent, Canaud Guillaume

Abstract excerpt

PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients with PROS, and alpelisib, an approved PIK3CA inhibitor in oncology, showed promising results in preclinical models and in patients. Here, we report for the first time the outcome of two infants with PROS having life-threatening...

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Identifiers

PMID: 35080595
DOI: 10.1084/jem.20212148
PMCID: PMC8932545

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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