Response to Alpelisib in Clinically Distinct Pediatric Patients with PIK3CA- related Disorders

Elysha Kolitz, Neil J. Fernandes, Nnenna G. Agim, Kathleen Ludwigl

Research output: Contribution to journalArticlepeer-review

Abstract

PIK3CA-related disorders include vascular malformations, potential overgrowth of various tissues, limb abnormalities, disordered soft tissue, and/or fatty hyperplasia that often leads to significant morbidity. Alpelisib, a targeted inhibitor of p110α, an enzyme encoded by the PIK3CA gene, has demonstrated success in a cohort of patients with PIK3CA-driven overgrowth syndromes. We describe the clinical course of 2 pediatric patients treated with alpelisib under the Novartis Managed Access Program. Both patients, though clinically distinct, demonstrate improvements in overgrowth volumes/extent, function of their affected limb, and quality of life, without significant adverse effects after prolonged treatment.

Original languageEnglish (US)
JournalJournal of Pediatric Hematology/Oncology
DOIs
StateAccepted/In press - 2022

Keywords

  • alpelisib
  • overgrowth syndromes
  • PIK3CA -related disorders
  • PIK3CA- related overgrowth spectrum
  • vascular malformations

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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