Clinical manifestations of Pacak-Zhuang syndrome in a male pediatric patient

Pediatr Blood Cancer. 2020 Apr;67(4):e28096. doi: 10.1002/pbc.28096. Epub 2019 Dec 25.

Abstract

We report an index case of a male patient who presented with all clinical manifestations of Pacak-Zhuang syndrome, including early-age polycythemia, multiple pheochromocytomas/paragangliomas, duodenal somatostatinoma, and ocular findings. Sequencing analysis detected an EPAS1 mutation in all tumors tested, but not in the germline.

Keywords: EPAS1; Pacak-Zhuang syndrome; paraganglioma; somatostatinoma.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adrenal Gland Neoplasms / genetics
  • Basic Helix-Loop-Helix Transcription Factors / genetics*
  • Duodenal Neoplasms / genetics
  • Eye Diseases, Hereditary / genetics*
  • Humans
  • Male
  • Mutation
  • Neoplasms, Multiple Primary / genetics*
  • Para-Aortic Bodies / pathology
  • Paraganglioma / genetics
  • Pheochromocytoma / genetics
  • Polycythemia / genetics*
  • Somatostatinoma / genetics
  • Syndrome
  • Young Adult

Substances

  • Basic Helix-Loop-Helix Transcription Factors
  • endothelial PAS domain-containing protein 1