ArticleGenetics in medicine : official journal of the American College of Medical Genetics2022
Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Pooled it
- An Extensive Lymphatic Malformation of the Parotid and Parotideo-Masseteric Region in an Adolescent: Nerve-Preserving Surgical Management and Postoperative Imaging Follow-Up: A Case Report.Children (Basel, Switzerland) · 2026Article
- TIE2 links MEKK3-KLF2/4 and PI3K signaling in cerebral cavernous malformation.The Journal of experimental medicine · 2026Article
- Multidisciplinary management of pediatric head and neck lymphatic malformations: a 10-year single-institution experience.International journal of pediatric otorhinolaryngology · 2026Article
- Topical Sirolimus Gel for the Treatment of Superficial Microcystic Lymphatic Malformations in Pediatric Patients: A Case Series.Clinical, cosmetic and investigational dermatology · 2026Article
- Analysis of the Occurrence ofChildren (Basel, Switzerland) · 2025Article
- H3K18 lactylation-hexokinase 2 positive feedback loop promotes osteogenesis of ASPCs in facial infiltrating lipomatosis.Stem cell research & therapy · 2025Article
- Concurrent PIK3CA and IDH1 variants in facial infiltrating lipomatosis with intracranial lesions.Genes & diseases · 2025Article
- Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.Epilepsia open · 2024Article
- An immortalized adipose-derived stem cells line from theBiochemistry and biophysics reports · 2024Article
- A 14-year single-center experience evaluating sclerotherapy efficacy in lymphatic malformations.Journal of vascular surgery. Venous and lymphatic disorders · 2024Article
- PIK3CA mutations enhance the adipogenesis of ADSCs in facial infiltrating lipomatosis through TRPV1.iScience · 2024Article
- A multi-step approach to overcome challenges in the management of head and neck lymphatic malformations, and response to treatment.Orphanet journal of rare diseases · 2024Article
- A real-world disproportionality analysis of FDA adverse event reporting system (FAERS) events for alpelisib.Heliyon · 2024Article
- Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.Head & face medicine · 2024Review
- Updates in Genetic Testing for Head and Neck Vascular Anomalies.Oral and maxillofacial surgery clinics of North America · 2024Review
- Targeted therapies for vascular malformations.Frontiers in medicine · 2024Review
- Laparoscopic-assisted sclerotherapy in pediatric retroperitoneal lymphatic malformations.Frontiers in pediatrics · 2024Article
- Article
- Rapid response with good toleration of sirolimus for life-threatening neonatal lymphatic malformations.Pediatric investigation · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
19 authors at 3 institutions in 1 country.
Funding
Abstract
purposePIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are treatment challenges. Traditionally, these conditions require multiple invasive interventions, with incomplete malformation removal, disfigurement, and possible dysfunction. Use of the PI3K inhibitor alpelisib, previously shown to be effective in PROS, has not been reported in PIK3CA-associated head and neck lymphatic malformations (HNLMs) or facial infiltrating lipomatosis (FIL). We describe prospective treatment of 5 children with PIK3CA-associated HNLMs or head and neck FIL with alpelisib monotherapy.
methodsA total of 5 children with PIK3CA-associated HNLMs (n = 4) or FIL (n = 1) received alpelisib monotherapy (aged 2-12 years). Treatment response was determined by parental report, clinical evaluation, diary/questionnaire, and standardized clinical photography, measuring facial volume through 3-dimensional photos and magnetic resonance imaging.
resultsAll participants had reduction in the size of lesion, and all had improvement or resolution of malformation inflammation/pain/bleeding. Common invasive therapy was avoided (ie, tracheotomy). After 6 or more months of alpelisib therapy, facial volume was reduced (range 1%-20%) and magnetic resonance imaging anomaly volume (range 0%-23%) were reduced, and there was improvement in swallowing, upper airway patency, and speech clarity.
conclusionIndividuals with head and neck PROS treated with alpelisib had decreased malformation size and locoregional overgrowth, improved function and symptoms, and fewer invasive procedures.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.