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Kids First: Enchondromatoses
Kids First Data Resource
Data Resource:  Kids First Data Resource
Point of Contact:  
Allison Heath,  
Project

About This Dataset
Chondrosarcoma is a malignant tumor that originates from cartilaginous cells. It is the third most common primary malignancy of bone after myeloma and osteosarcoma. It accounts for about 20% of bone tumors and is diagnosed in approximately 600 patients each year in the United States. Up to 40% of the chondrosarcomas arise from an enchondroma. Enchondromas are benign, intramedullary cartilaginous tumors of bone. They can be solitary or multiple and are present in >3% of the population. Enchondromatosis refers to a group of diseases characterized by multiple enchondromas including metachondromatosis (MC), Ollier disease (OD), and Maffucci syndrome (MS) among others. All have skeletal abnormalities with or without associated vascular anomalies that can cause severe limb deformities during early childhood. The risk for chondrosarcoma is up to 30% in OD and MS. Currently, the only treatment for patients with these disorders is surgical; there is no effective pharmacologic therapy. The molecular bases of these two conditions is not well understood.
Core Data Elements
Number of Cases
211
Case Sex
Female (113); Male (98)
Case Age At Diagnosis
0 to 4 years (27); 5 to 9 years (13); 10 to 14 years (4); 15 to 19 years (1); 20 to 24 years (1); Pediatric and Young Adult (<40 years) (165)
Case Race
Asian (1); Black or African American (1); More Than One Race (6); White (95); Not Reported (108)
Case Ethnicity
Hispanic or Latino (7); Not Hispanic or Latino (81); Not Reported (123)
Case Disease Diagnosis
Maffucci Syndrome (19); Ollier Disease (56)
Case Proband
Yes (75); No (136)
Number of Samples
211
Sample Assay Method
Whole Genome Sequencing (211)
Additional Data Elements
DBGAP STUDY IDENTIFIER
DATA REPOSITORY
Grant Information
X01HL140517
Charts
Female (113); Male (98)
113Female