Histiocytoma, Stenosis
Conditions
Keywords
arthritis & connective tissue diseases, bone cancer, diaphyseal medullary stenosis, genetic diseases and dysmorphic syndromes, malignant fibrous histiocytoma of bone, musculoskeletal/mesodermal cancer, oncologic disorders, rare disease
Brief summary
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.
Detailed description
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.
Interventions
None listed
Sponsors
Icahn School of Medicine at Mount Sinai
National Center for Research Resources (NCRR)
Eligibility
Sex/Gender
ALL
Age
0 Years to 90 Years
Healthy volunteers
Yes
Inclusion criteria
PROTOCOL ENTRY CRITERIA: --Disease Characteristics-- Diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone OR Family member, including spouses, of an affected individual --Patient Characteristics-- Renal: Not specified * Not pregnant * Negative pregnancy test * No diminished mental capacity * No prisoners
Countries
United States
Outcome results
None listed