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Updated: Oct 4, 2025

A Protocol for Rapid Post-mortem Cell Culture of Diffuse Intrinsic Pontine Glioma DIPG
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Response to Alpelisib in Clinically Distinct Pediatric Patients With PIK3CA -related Disorders

Elysha Kolitz1, Neil J Fernandes2, Nnenna G Agim3

  • 1University of Texas Southwestern Medical School, University of Texas Southwestern Medical Center.

Journal of Pediatric Hematology/Oncology
|February 7, 2022
PubMed

Insights

Alpelisib effectively treated two children with PIK3CA-related overgrowth disorders, improving limb function and quality of life without major side effects.

Area of Science:

  • Genetics
  • Oncology
  • Pediatrics

Background:

  • PIK3CA-related disorders encompass a spectrum of conditions including overgrowth, vascular malformations, and limb abnormalities.
  • These disorders often lead to significant patient morbidity.
  • Alpelisib targets the PIK3CA gene's encoded enzyme p110α, showing prior success in PIK3CA-driven overgrowth syndromes.

Purpose of the Study:

  • To describe the clinical outcomes of pediatric patients with PIK3CA-related disorders treated with alpelisib.
  • To evaluate the safety and efficacy of alpelisib in managing overgrowth and functional deficits.

Main Methods:

  • Retrospective case review of two pediatric patients.
  • Treatment with alpelisib administered via the Novartis Managed Access Program.
  • Assessment of clinical improvements in overgrowth, limb function, and quality of life.

Main Results:

  • Both patients exhibited significant improvements in overgrowth volume and extent.
  • Functional capacity of affected limbs improved in both pediatric cases.
  • Patients reported enhanced quality of life with prolonged alpelisib treatment.
  • No significant adverse effects were observed during the treatment period.

Conclusions:

  • Alpelisib demonstrates promising efficacy and a favorable safety profile for managing PIK3CA-related overgrowth disorders in pediatric patients.
  • Targeted therapy with alpelisib offers a viable treatment option for improving clinical outcomes and quality of life in this patient population.

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