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AKT1 and BRAF mutations in pediatric aggressive fibromatosis

Cristina Meazza1, Antonino Belfiore2, Adele Busico2

  • 1Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Cancer Medicine
|April 11, 2016
PubMed

Insights

Pediatric aggressive fibromatosis (AF) shows a more complex genetic profile than adult AF, with mutations in CTNNB1, AKT1, and BRAF genes identified. These findings may offer new prognostic biomarkers and therapeutic targets for pediatric AF.

Area of Science:

  • Oncology
  • Genetics
  • Pediatric Medicine

Background:

  • The genetic landscape of pediatric aggressive fibromatosis (AF) is not well understood beyond CTNNB1 and APC mutations.
  • Understanding these genetic profiles is crucial for identifying prognostic factors and therapeutic targets.

Purpose of the Study:

  • To investigate the mutational spectrum of pediatric AF and compare it with adult AF.
  • To identify potential biomarkers for prognosis and novel therapeutic strategies in pediatric AF.

Main Methods:

  • Sanger sequencing and next-generation sequencing (NGS) were performed on 28 pediatric and 33 adult AF samples.
  • Genes analyzed included CTNNB1, APC, AKT1, BRAF, TP53, and RET.
  • Recurrence-free survival (RFS) was analyzed using Kaplan-Meier and log-rank tests.

Main Results:

  • Pediatric AF exhibited mutations in CTNNB1 (64%), AKT1 (31%), BRAF (19%), and TP53 (9%).
  • Adult AF predominantly showed CTNNB1 mutations.
  • The Q472H VEGFR polymorphism was present in both groups.

Conclusions:

  • Pediatric AF possesses a more complex genetic profile than adult AF, involving CTNNB1, AKT1, and BRAF mutations.
  • These genetic differences may have significant clinical implications for pediatric AF management.
  • Further research is warranted to explore these findings and their clinical utility.

Keywords:
AKT1BRAFCTNNB1, TP53pediatric aggressive fibromatosis

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