PIK3CA-related overgrowth with an uncommon phenotype: case report.
Megalencephaly-capillary malformation
PIK3CA
Phenotype
Journal
Italian journal of pediatrics
ISSN: 1824-7288
Titre abrégé: Ital J Pediatr
Pays: England
ID NLM: 101510759
Informations de publication
Date de publication:
12 May 2022
12 May 2022
Historique:
received:
29
04
2021
accepted:
02
05
2022
entrez:
13
5
2022
pubmed:
14
5
2022
medline:
18
5
2022
Statut:
epublish
Résumé
Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum". We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy. NGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies.
Sections du résumé
BACKGROUND
BACKGROUND
Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined "PIK3CA-related overgrowth spectrum".
CASE PRESENTATION
METHODS
We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy.
CONCLUSIONS
CONCLUSIONS
NGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies.
Identifiants
pubmed: 35551640
doi: 10.1186/s13052-022-01268-9
pii: 10.1186/s13052-022-01268-9
pmc: PMC9097398
doi:
Substances chimiques
Class I Phosphatidylinositol 3-Kinases
EC 2.7.1.137
PIK3CA protein, human
EC 2.7.1.137
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
71Informations de copyright
© 2022. The Author(s).
Références
Br J Dermatol. 2020 Mar;182(3):552-563
pubmed: 30920652
JCI Insight. 2016 Jun 16;1(9):
pubmed: 27631024
Korean J Pediatr. 2016 Nov;59(Suppl 1):S152-S156
pubmed: 28018470
Prenat Diagn. 2013 Oct;33(10):1010-2
pubmed: 23754335
Cell. 2017 Aug 10;170(4):605-635
pubmed: 28802037
Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):582-590
pubmed: 31441589
Hum Mol Genet. 2013 Feb 1;22(3):444-51
pubmed: 23100325
Am J Med Genet C Semin Med Genet. 2013 May;163C(2):122-30
pubmed: 23592320
Indian Dermatol Online J. 2020 Sep 19;11(5):738-746
pubmed: 33235839
Genet Med. 2018 Aug;20(8):882-889
pubmed: 29446767
Genet Med. 2017 Sep;19(9):989-997
pubmed: 28151489
Nat Rev Clin Oncol. 2018 May;15(5):273-291
pubmed: 29508857
Am J Med Genet A. 2015 Feb;167A(2):287-95
pubmed: 25557259
Dermatol Clin. 2017 Jan;35(1):51-60
pubmed: 27890237
Am J Med Genet A. 2010 Dec;152A(12):3101-6
pubmed: 21077203
Exp Dermatol. 2016 Jan;25(1):17-9
pubmed: 26268729