Comparative RNA-seq analysis aids in diagnosis of a rare pediatric tumor

Cold Spring Harb Mol Case Stud. 2019 Oct 23;5(5):a004317. doi: 10.1101/mcs.a004317. Print 2019 Oct.

Abstract

Gliomatosis peritonei is a rare pathologic finding that is associated with ovarian teratomas and malignant mixed germ cell tumors. The occurrence of gliomatosis as a mature glial implant can impart an improved prognosis to patients with immature ovarian teratoma, making prompt and accurate diagnosis important. We describe a case of recurrent immature teratoma in a 10-yr-old female patient, in which comparative analysis of the RNA sequencing gene expression data from the patient's tumor was used effectively to aid in the diagnosis of gliomatosis peritonei.

Keywords: neoplasm of the nervous system.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Base Sequence / genetics
  • Child
  • Exome Sequencing
  • Female
  • Glioma / diagnosis
  • Glioma / genetics
  • Humans
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics
  • Peritoneal Neoplasms / diagnosis*
  • Peritoneal Neoplasms / genetics*
  • Prognosis
  • RNA-Seq / methods
  • Rare Diseases / diagnosis
  • Rare Diseases / genetics
  • Sequence Analysis, RNA / methods
  • Teratoma / diagnosis*
  • Teratoma / genetics

Supplementary concepts

  • Teratoma, Ovarian