Genetic Study of Patients and Families With Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma of the Bone

National Center for Research Resources (NCRR)

Status: Completed

Conditions: Histiocytoma; Stenosis

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00007046

MTS-GCO-97-304HG

MTS-97-304-0001-HG

199/15489

Details and patient eligibility

About

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.

Full 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.

Sex: All

Ages: Under 90 years old

Volunteers: Accepts Healthy Volunteers

Inclusion and exclusion 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