Frequent low-level mutations of Protein Kinase D2 in angiolipoma

Research output: Contribution to journalArticle

Abstract

Tumours displaying differentiation towards normal fat constitute the most common subgroup of soft tissue neoplasms. A series of such tumours was investigated by whole-exome sequencing followed by targeted ultra-deep sequencing. Eighty percent of angiolipomas, but not any other tumour type, displayed mutations in the protein kinase D2 (PRKD2) gene, typically in the part encoding the catalytic domain. The absence of other aberrations at the chromosome or RNA level suggests that PRKD2 mutations are critical for angiolipoma development. Consistently, the mutated PRKD2 alleles were present at low (3-15%) frequencies, indicating that only a subset of the tumour cells is affected. Indeed, by sequencing mature fat cells and other cells separately, the former typically showed the highest mutation frequencies. Thus, we hypothesize that altered PRKD2 signalling in the adipocytic cells drive tumourigenesis and, in agreement with its pivotal role in angiogenesis, induces the vessel formation that is characteristic for angiolipoma.

Details

Authors
Organisations
External organisations
  • Skåne University Hospital
  • Harvard Medical School
  • Linköping University
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology
Original languageEnglish
Pages (from-to)578-582
JournalJournal of Pathology
Volume241
Issue number5
Early online date2017 Jan 31
Publication statusPublished - 2017
Publication categoryResearch
Peer-reviewedYes

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Elsa Arbajian, 2017, Lund: Lund University, Faculty of Medicine. 58 p.

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