Recurrent KBTBD4 small in-frame insertions and absence of DROSHA deletion or DICER1 mutation differentiate pineal parenchymal tumor of intermediate differentiation (PPTID) from pineoblastoma

Acta Neuropathol. 2019 May;137(5):851-854. doi: 10.1007/s00401-019-01990-5. Epub 2019 Mar 14.
No abstract available

Publication types

  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Biomarkers, Tumor / genetics
  • Biomarkers, Tumor / metabolism
  • Brain / diagnostic imaging
  • Brain / metabolism
  • Brain / pathology
  • Brain Neoplasms / diagnostic imaging
  • Brain Neoplasms / genetics*
  • Brain Neoplasms / metabolism
  • Brain Neoplasms / pathology
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Child
  • Cohort Studies
  • DEAD-box RNA Helicases / genetics*
  • DEAD-box RNA Helicases / metabolism
  • Diagnosis, Differential
  • Female
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation
  • Pineal Gland*
  • Pinealoma / diagnostic imaging
  • Pinealoma / genetics*
  • Pinealoma / metabolism
  • Pinealoma / pathology
  • Ribonuclease III / genetics*
  • Ribonuclease III / metabolism

Substances

  • Biomarkers, Tumor
  • Carrier Proteins
  • KBTBD4 protein, human
  • DICER1 protein, human
  • DROSHA protein, human
  • Ribonuclease III
  • DEAD-box RNA Helicases