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

• DOI: 10.1101/mcs.a004317
• Publication Date: 2019-10-23T18:45:23Z
• Authors: Lauren M. Sanders; Arun Rangaswami; Isabel Bjork; Du Linh Lam; Holly C. Beale; Ellen Towle Kephart; Ann Durbin; Katrina Learned; Rob Currie; A. Geoffrey Lyle; Jacob Pfeil; Avanthi Tayi Shah; Alex G. Lee; Stanley G. Leung; Inge H. Behroozfard; Marcus R. Breese; Jennifer Peralez; Florette K. Hazard; Norman Lacayo; Sheri L. Spunt; David Haussler; Sofie R. Salama; E. Alejandro Swee...; Olena M. Vaske
• Keywords: Research Report; Bioinformatics and Computational Biology; 610; 618; 03 medical and health sciences; Cancer Genomics; Rare Diseases; 0302 clinical medicine; Exome Sequencing; Genetics; Humans; RNA-Seq; Child; Peritoneal Neoplasms; Cancer; Pediatric; Ovarian Neoplasms; Biomedical and Clinical Sciences; Base Sequence; Sequence Analysis, RNA; Prevention; Human Genome; Teratoma; Glioma; Biological Sciences; Prognosis; Ovarian Cancer; 3. Good health; Orphan Drug; Pharmacology and pharmaceutical sciences; Reproductive Medicine; neoplasm of the nervous system; Women's Health; RNA; Female; Sequence Analysis

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.