Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in patients suffering from Mazabraud syndrome

Genetic link between Fibrous Dysplasia and Intramuscular Myxoma in Mazabraud syndrome

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ANZCTR

Registry ID

ACTRN12616001371482

Enrollment

Registered

2016-10-04

Start date

2017-06-01

Completion date

Unknown

Last updated

2020-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

Brief summary

Mazabraud’s syndrome is a rare syndrome in which benign intramuscular myxomas occur in association with fibrous dysplasia of bone. (Macfarlane, Lew et al. 2007) There is increased risk of developing osteosarcoma or fibrosarcoma in Fibrous Dysplasia with Mazabraud syndrome. The recognition of this entity is important for appropriate management of the patient. In this project, we will perform genetic tests on 4 patients with Mazabraud syndrome to look for any genetic link between Fibrous Dysplasia (FD) and Intramuscular Myxoma (IM). In order to do genetic study, we need to arrange taking blood sample from these patients.

Interventions

4 cases of Mazabraud syndrome will be asked to give blood sample in pathology for genetic study.. Only a single blood sample will be taken from each participant.

Eligibility

Sex/Gender

All

Healthy volunteers

Inclusion criteria

Patients with confirmed diagnosis of both Intramuscular Myxoma and Fibrous Dysplesia (which is known as Mazabraud syndrome)

Exclusion criteria

Nil

Outcome results