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Next generation sequencing of diffuse intrinsic pontine glioma samples to identify recurrent mutations, variations, and expression patterns to define novel therapies
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Charles Keller, MD,  
Project

About This Dataset
Diffuse intrinsic pontine glioma (DIPG) is an extremely rare (~350 cases/year) and universally fatal childhood brain cancer. Standard clinical strategies such as chemotherapy and radiotherapy show only transient improvement in patient condition and result in negligible change in survival, DIPG remains at below 1% survival after 5 years. Prioritization of panobinostat through previous cooperative work resulted in a phase 1 clinical trial. Nonetheless, new therapies for DIPG must be identified to further dramatically change the statistics for DIPG. To identify novel therapy strategies for DIPG, we performed whole exome(16 new samples, 22 previously published samples, 38 in total with 26 matched normal) and RNA deep sequencing (17 new samples, 11 previously published samples) on a cohort of new patient samples. Sequencing results aid in the identification of recurrent mutations/variations and endotypic expression profiling to identify new therapeutic and treatment strategies for DIPG.
Core Data Elements
Number of Cases
14
Case Sex
Female (4); Male (7); Unknown (3)
Case Age At Diagnosis
0 to 4 years (1); 5 to 9 years (5); 10 to 14 years (3); 15 to 19 years (1); 35 to 39 years (1); Pediatric and Young Adult (<40 years) (3)
Case Race
Not Reported (14)
Case Ethnicity
Not Reported (14)
Case Disease Diagnosis
Diffuse Intrinsic Pontine Glioma (14)
Number of Samples
52
Sample Assay Method
RNA Sequencing (27); Whole Exome Sequencing (25)
Sample Anatomic Site
Brain (52)
Sample Is Normal
Yes (25); No (27)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Published In
https://doi.org/10.1371/journal.pone.0193565
Charts
Male (7); Female (4); Unknown (3)
7Male