Abstract
Purpose
PIK3CA-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.
Methods
A 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.
Results
All 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.
Conclusion
Individuals with head and neck PROS treated with alpelisib had decreased malformation
size and locoregional overgrowth, improved function and symptoms, and fewer invasive
procedures.
Keywords
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Article info
Publication history
Published online: September 06, 2022
Accepted:
July 27,
2022
Received in revised form:
July 26,
2022
Received:
May 12,
2022
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
