Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone
OBJECTIVES: I. Identify and characterize the gene causing diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone.
II. Determine the clinical manifestations of this disease in these patients.
|Study Design:||Primary Purpose: Screening|
|Study Start Date:||August 2000|
PROTOCOL OUTLINE: Blood samples are obtained from affected individuals and their family members after genetic counseling. Genetic linkage analysis is performed on these blood samples. Unaffected individuals undergo x-rays and technetium bone scans to detect the presence of bone disease. Affected individuals undergo bone densitometry, MRI studies, thallium scans, ophthalmologic examination, electrocardiogram, echocardiogram, and skin biopsies.
Affected family members identified after radiologic studies receive additional genetic counseling.
|United States, New York|
|Mount Sinai School of Medicine|
|New York, New York, United States, 10029|
|Study Chair:||J.A. Martignetti||Mount Sinai School of Medicine|