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

This study has been completed.
Icahn School of Medicine at Mount Sinai
Information provided by:
National Center for Research Resources (NCRR) Identifier:
First received: December 6, 2000
Last updated: June 23, 2005
Last verified: December 2003

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 Type: Observational
Study Design: Primary Purpose: Screening

Resource links provided by NLM:

Further study details as provided by National Center for Research Resources (NCRR):

Study Start Date: August 2000
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.


Ages Eligible for Study:   up to 90 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes


--Disease Characteristics--

Diagnosis of diaphyseal medullary stenosis with malignant fibrous histiocytoma of the bone


Family member, including spouses, of an affected individual

--Patient Characteristics--

Renal: Not specified

  • Not pregnant
  • Negative pregnancy test
  • No diminished mental capacity
  • No prisoners
  Contacts and Locations
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Please refer to this study by its identifier: NCT00007046

United States, New York
Mount Sinai School of Medicine
New York, New York, United States, 10029
Sponsors and Collaborators
National Center for Research Resources (NCRR)
Icahn School of Medicine at Mount Sinai
Study Chair: J.A. Martignetti Icahn School of Medicine at Mount Sinai
  More Information Identifier: NCT00007046     History of Changes
Other Study ID Numbers: 199/15489
Study First Received: December 6, 2000
Last Updated: June 23, 2005

Keywords provided by National Center for Research Resources (NCRR):
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

Additional relevant MeSH terms:
Constriction, Pathologic
Histiocytoma, Benign Fibrous
Histiocytoma, Malignant Fibrous
Pathological Conditions, Anatomical
Neoplasms, Fibrous Tissue
Neoplasms, Connective Tissue
Neoplasms, Connective and Soft Tissue
Neoplasms by Histologic Type
Sarcoma processed this record on May 23, 2017