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

National Center for Research Resources (NCRR)

Overview

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.

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.

Study Type

OBSERVATIONAL

Conditions

Stenosis Histiocytoma

Eligibility

Sex: ALLMin age: 0 YearsMax age: 90 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

Mount Sinai School of Medicine

New York, New York, United States

Data from ClinicalTrials.gov

This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.