Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

Clinical experience with the AKT1 inhibitor miransertib in two children with PIK3CA-related overgrowth syndrome

Abstract Background PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated morbidity is frequently observed, and approved treatments are lacking. M...

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Bibliographic Details
Main Authors: Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine, Veronika Dvorakova
Format: Article
Language:English
Published: BMC 2021-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
PIK3CA-related overgrowth spectrum (PROS)
Miransertib
AKT inhibitor
Next generation sequencing (NGS)
Targeted treatment
Online Access:https://doi.org/10.1186/s13023-021-01745-0

Internet

https://doi.org/10.1186/s13023-021-01745-0

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