Clinical Response to PI3K-α Inhibition in a Cohort of Children and Adults With PIK3CA-Related Overgrowth Spectrum Disorders.

ABSTRACT:

Objective

The goal of this report is to describe, through a series of 5 cases, the clinical response and safety of alpelisib (BYL719) use in children and adults with PIK3CA-related overgrowth spectrum (PROS) disorders at our center.

Methods

We reviewed clinical records of 5 patients from October 2019 through September 2021 followed by the pediatric hematology and multidisciplinary vascular anomalies teams at the Monroe Carell Jr. Children's Hospital at Vanderbilt (MCJCHV). All patients carried a clinical or genetic diagnosis of PROS and were treated with alpelisib provided by a Novartis managed access program.

Results

We highlight improvement in reported symptoms, objective overgrowth measurements, and quality of life to varying degrees in all patients. We note

SUBMITTER: Raghavendran P 

PROVIDER: S-EPMC9592062 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature