Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Am J Med Genet A. 2014 Sep;164A(9):2360-4. doi: 10.1002/ajmg.a.36622. Epub 2014 Jun 5.

Abstract

We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R variant in PIK3CA, which was absent in blood. This report expands the phenotypic spectrum of mosaic PIK3CA mutations.

Keywords: PIK3CA; fibroadipose hyperplasia; mosaicism; segmental overgrowth.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adipose Tissue / pathology
  • Child
  • Child, Preschool
  • Class I Phosphatidylinositol 3-Kinases
  • Female
  • Humans
  • Infant
  • Lipomatosis / enzymology*
  • Lipomatosis / genetics*
  • Mesentery / pathology*
  • Mosaicism*
  • Mutation / genetics*
  • Phosphatidylinositol 3-Kinases / genetics*
  • Polymorphism, Single Nucleotide / genetics*

Substances

  • Phosphatidylinositol 3-Kinases
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human