{"title":"Alpelisib: A Novel Agent for PIK3CA-Related Overgrowth Spectrum.","authors":"Katarina Nadjkovic, Kevin Lonabaugh","doi":"10.5863/1551-6776-28.7.590","DOIUrl":null,"url":null,"abstract":"<p><p>The aim of this review is to present the information a clinician will need when considering alpelisib therapy for a patient diagnosed with PIK3CA-related overgrowth spectrum (PROS). PROS is a condition caused by a somatic recessive gain-of-function mutation in the gene encoding phosphatidylinositol-3-kinase (PI3K). PROS is rare, affecting approximately 14 births per 1 million. PROS affects many different tissues including skin, bone, vascular, adipose, and connective tissues, thus its presentations vary widely. The presentation of PROS is often described as mosaic, as the disease typically does not affect all cells in the body. For patients two years of age and older requiring systemic therapy, alpelisib is an option which was recently granted accelerated approval by the US Food and Drug Administration (FDA) on April 5, 2022. Alpelisib is an inhibitor of PI3K, slowing the progression of existing lesions and preventing new lesions in patients with PROS. Important drug interactions exist with both CYP3A4 inducers and CYP2C9 substrates. Additionally, providers of patients receiving alpelisib should be aware of potential side effects including hypersensitivity, severe cutaneous adverse reactions, hyperglycemia, pneumonitis, diarrhea, and embryo-fetal toxicity. Despite the potential for adverse events, alpelisib has provided clinical benefit to many patients with PROS as evidenced by the current literature. This review collects and summarizes the currently available evidence, including a recently published case series and multiple case reports. Alpelisib is a promising new option for patients with PROS.</p>","PeriodicalId":37484,"journal":{"name":"Journal of Pediatric Pharmacology and Therapeutics","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10681085/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Pharmacology and Therapeutics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5863/1551-6776-28.7.590","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/11/23 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0
Abstract
The aim of this review is to present the information a clinician will need when considering alpelisib therapy for a patient diagnosed with PIK3CA-related overgrowth spectrum (PROS). PROS is a condition caused by a somatic recessive gain-of-function mutation in the gene encoding phosphatidylinositol-3-kinase (PI3K). PROS is rare, affecting approximately 14 births per 1 million. PROS affects many different tissues including skin, bone, vascular, adipose, and connective tissues, thus its presentations vary widely. The presentation of PROS is often described as mosaic, as the disease typically does not affect all cells in the body. For patients two years of age and older requiring systemic therapy, alpelisib is an option which was recently granted accelerated approval by the US Food and Drug Administration (FDA) on April 5, 2022. Alpelisib is an inhibitor of PI3K, slowing the progression of existing lesions and preventing new lesions in patients with PROS. Important drug interactions exist with both CYP3A4 inducers and CYP2C9 substrates. Additionally, providers of patients receiving alpelisib should be aware of potential side effects including hypersensitivity, severe cutaneous adverse reactions, hyperglycemia, pneumonitis, diarrhea, and embryo-fetal toxicity. Despite the potential for adverse events, alpelisib has provided clinical benefit to many patients with PROS as evidenced by the current literature. This review collects and summarizes the currently available evidence, including a recently published case series and multiple case reports. Alpelisib is a promising new option for patients with PROS.
期刊介绍:
The Journal of Pediatric Pharmacology and Therapeutics is the official journal of the Pediatric Pharmacy Advocacy Group. JPPT is a peer-reviewed multi disciplinary journal that is devoted to promoting the safe and effective use of medications in infants and children. To this end, the journal publishes practical information for all practitioners who provide care to pediatric patients. Each issue includes review articles, original clinical investigations, case reports, editorials, and other information relevant to pediatric medication therapy. The Journal focuses all work on issues related to the practice of pediatric pharmacology and therapeutics. The scope of content includes pharmacotherapy, extemporaneous compounding, dosing, methods of medication administration, medication error prevention, and legislative issues. The Journal will contain original research, review articles, short subjects, case reports, clinical investigations, editorials, and news from such organizations as the Pediatric Pharmacy Advocacy Group, the FDA, the American Academy of Pediatrics, the American Society of Health-System Pharmacists, and so on.