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Related Experiment Videos

Genetic alterations in seborrheic keratoses.

Barbara Heidenreich1, Evygenia Denisova1, Sivaramakrishna Rachakonda1

  • 1Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany.

Oncotarget
|April 15, 2017
PubMed
Summary

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This study reveals common genetic mutations in seborrheic keratoses, primarily driven by sun exposure. Frequent mutations in FGFR3 and TERT promoters were identified, offering insights into these benign skin lesions.

Area of Science:

  • Dermatology
  • Oncology
  • Genetics

Background:

  • Seborrheic keratoses are common, benign epidermal growths.
  • These lesions accumulate somatic mutations, yet are considered genetically stable compared to malignant tumors.
  • Sun exposure and aging are known risk factors.

Purpose of the Study:

  • To investigate and characterize recurrent mutations in seborrheic keratoses.
  • To determine the mutation rate and patterns in these lesions.
  • To identify specific genes and promoters frequently altered.

Main Methods:

  • Exome sequencing was performed on seborrheic keratosis lesions and patient blood.
  • Follow-up investigations analyzed 24 additional lesions.
  • Specific gene loci (FGFR3, PIK3CA, HRAS, BRAF, CDKN2A) and promoter regions (TERT, DPHH3) were examined.
Keywords:
exome-sequencingseborrheic keratosisskin cancersomatic mutations

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Main Results:

  • Exome sequencing revealed approximately three mutations per Mb, with a mutational pattern characteristic of UV damage (C>T and CC>TT changes).
  • FGFR3 mutations were most frequent (48%), followed by PIK3CA (32%), TERT promoter (24%), and DPH3 promoter (24%).
  • TERT promoter mutations correlated with increased age and were found predominantly in head and neck lesions; CDKN2A alterations were noted in three lesions.

Conclusions:

  • Seborrheic keratoses exhibit a distinct mutational signature, largely attributed to UV radiation.
  • FGFR3 and TERT promoter mutations are prevalent in these benign growths.
  • While gene expression didn't directly correlate with mutations, FGFR3 and FOXN1 levels suggest a feedback loop potentially inhibiting malignancy.