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The Institute for Genomic Medicine at Nationwide Children's Hospital Pediatric Cancer and Blood Disorder Project
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Catherine Cottrell,  
Project

About This Dataset
The aim of this study is to enable the unification of the clinical and research arms of comprehensive genomic profiling in the setting of cancer and hematologic disease. Increasingly, studies of the genomic etiology of cancer and hematologic diseases are being utilized for patient management, including prognostication, informing diagnosis, and evaluating eligibility for targeted therapeutics and clinical trials. Clinically available testing can be limited in scope and follow-up, and thus assessment of the impact on patient outcomes is difficult to ascertain. N-of-1 studies have the ability to more broadly impact our understanding of the mechanisms of cancer and hematologic disease, and can have benefit for the individual as well as the larger population of patients with these diseases. Thus, we seek to study and characterize the genomic underpinnings of cancer and hematologic disease through genomic profiling studies bridging both clinical and research components. We will rigorously perform and vet research sequencing and genomic studies protocols for the purpose of transitioning these assays to clinically valid testing for use in clinical patient care.
Core Data Elements
Number of Cases
259
Case Sex
Female (111); Male (150)
Case Age At Diagnosis
0 to 4 years (85); 5 to 9 years (47); 10 to 14 years (70); 15 to 19 years (25); 20 to 24 years (13); 25 to 29 years (4); 35 to 39 years (1); Pediatric and Young Adult (<40 years) (14)
Case Race
Asian (9); Black or African American (15); More Than One Race (13); Unknown (4); White (197); Not Reported (13); Unknown (8)
Case Ethnicity
Hispanic or Latino (6); Not Hispanic or Latino (221); Not Reported (24); Unknown (8)
Case Disease Diagnosis
Alveolar Rhabdomyosarcoma (11); Atypical Teratoid/Rhabdoid Tumor (21); Choroid Plexus Carcinoma (22); Dysembryoplastic Neuroepithelial Tumor (9); Ependymoma (11); Ewing Sarcoma (29); Ganglioglioma (11); Germinoma (10); Glioblastoma Multiforme (15); Glioblastoma, NOS (18); Glioneuronal Tumor (20); Low Grade Neuroepithelial Tumor (17); Medulloblastoma (44); Medulloblastoma, WNT (10); Metastatic Neuroblastoma (11); Mixed Glial-Neuronal Tumor (25); Neuroblastoma (23); Neuroepithelial Tumor (18); Oligodendroglioma (9); Osteosarcoma (23); Other (315); Pilocytic Astrocytoma (69); Rhabdomyosarcoma (18); Wilms Tumor (10); Not Reported (319)
Number of Samples
1,088
Sample Anatomic Site
Blood (260); Bone Marrow (25); Bone, Ischium (5); Brain (7); Brain Stem (20); Brain Stem, Medulla (5); Brain, Basal Ganglia (9); Brain, Cerebellum (17); Brain, Cerebral Lobe and Parietal (7); Brain, Cerebrum (7); Brain, Cerebrum (7); Brain, Fourth Ventricle (7); Brain, Frontal Lobe (30); Brain, Left Centrum Semiovale (5); Brain, Left Hemisphere (5); Brain, Left Parietal-Occipital Region (5); Brain, NOS (11); Brain, Parietal Lobe (16); Brain, Posterior Fossa (52); Brain, Right Frontal Lobe (10); Brain, Right Middle Temporal Gyrus (5); Brain, Right Parietal Lobe (7); Brain, Suprasellar Region (21); Brain, Temporal Lobe (30); Brain, Temporal Lobe/Lateral Atrium (5); Brain, Thalamus (14); Brain, Third Ventricle (9); Buccal Cells (12); Buccal Swab (15); Cerebrospinal Fluid (5); Kidney, NOS (5); Kidney, Right (7); Left Leg (7); Lung, Right Lower Lobe (5); Lung, Upper Lobe (5); Lymph Node, Left Inguinal (5); Mass, Left retroauricular Region (5); Other (343); Right Eye (5); Saliva (28); Skin, Back and Intraspinal Tissue (5); Skull (10); Soft Tissue, Face (5); Spinal Cord (10); Superior Medial Orbital Lesion (5); Thorax, NOS (5)
Sample Is Normal
Yes (320); No (768)
Additional Data Elements
DBGAP STUDY IDENTIFIER
Grant Information
P30CA016058
Cancer Center Support Grant
R01GM118568
Hardening and Scaling Core Genomics Software
R01HG006677
Computational Methods for Genome Assembly, Transcript Assembly, and Gene Discovery
Published In
https://doi.org/10.3324/haematol.2019.231928;https://doi.org/10.1016/j.isci.2019.05.037;https://doi.org/10.1093/jnen/nlz093;https://doi.org/10.1101/mcs.a002618
Charts
Male (150); Female (111)
150Male