Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone/McCune Albright Syndrome (TIM-DYS)

Civil Hospices of Lyon

Status: Enrolling

Conditions: Fibrous Dysplasia of Bone

Treatments: Other: Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions.

Study type: Observational

Funder types: Other

Identifiers

NCT06177327

23-5288

Details and patient eligibility

About

Fibrous dysplasia of bone /McCune Albright syndrome (FD/MAS) is a rare bone disease caused by somatic mutations in GNAS gene. This GNAS mutation predisposes to cancers, including breast cancer, thyroid cancer, chondrosarcoma and osteosarcoma, as well as biliary tract anomalies, liver-tumors or pancreatic tumors - IPMNs. Intraductal papillary and mucinous neoplasms of the pancreas (IPMN) are cystic intraepithelial ductal lesions developed at the expense of pancreatic ducts. They are pre-cancerous lesions, requiring monitoring and, in case of progression or malignant degeneration, surgical resection. Pancreatic MRI screening of patients with polyostotic FD and MAS is recommended.

The aim of this study is to investigate the epidemiology and characteristics of these hepato-pancreato-biliary abnormalities (prevalence, age of onset, degeneration), based on magnetic resonance imaging (MRI) realized during the follow-up of patients with FD/MAS treated in a French FD expert center.

A better understanding of these IPMNs and other digestive abnormalities will enable clinicians to improve the management and monitoring in this high-risk population.

Enrollment: 545 estimated patients

Sex: All

Ages: 18 to 100 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Adults ≥18 years with polyostotic FD/MAS
• Followed up in the national FD reference center (Lyon) or in a FD French expert center: Angers, Bordeaux, Brest, Caen, Clermont-Ferrand, Lille, Marseille, Montpellier, Nice, Paris, Poitiers, Rennes, Saint-Etienne, Strasbourg.
• who had an hepato-bilio-pancreatic MRI during their follow-up, since January 2002
• No objection to data collection

Exclusion criteria

-Opposition to data collection

Trial design

545 participants in 1 patient group

Adults with polyostotic fibrous dysplasia McCune Albright syndrome

Description:

A retrospective data collection and statistical analyses will be performed. Adults with polyostotic fibrous dysplasia McCune Albright syndrome, who underwent an hepato-bilio-pancreatic MRI since January 2002, during their follow-up

Treatment:

Other: Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions.