Frequent low-level mutations of Protein Kinase D2 in angiolipoma

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift


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.


Enheter & grupper
Externa organisationer
  • Skåne University Hospital
  • Harvard Medical School
  • Linköping University

Ämnesklassifikation (UKÄ) – OBLIGATORISK

  • Cancer och onkologi
Sidor (från-till)578-582
TidskriftJournal of Pathology
Utgåva nummer5
Tidigt onlinedatum2017 jan 31
StatusPublished - 2017
Peer review utfördJa

Relaterad forskningsoutput

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

Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

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