Fibrous Dysplasia of Bone
Conditions
Keywords
Fibrous dysplasia of bone, McCune Albright syndrome, pancreatic neoplasms, IPMN
Brief summary
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.
Interventions
OTHERScreening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions.
Data collection from hepato-bilio-pancreatic Magnetic Resonance Imaging realized during the follow up of patients with Fibrous dysplasia of bone /McCune Albright syndrome
Sponsors
Hospices Civils de Lyon
Study design
Observational model
COHORT
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 100 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Describe hepato-bilio-pancreatic abnormalities in FD/MAS and estimate the prevalence of IPMN. | hepato-bilio-pancreatic MRI performed from January 2002 until December 2024. | Hepato-bilio-pancreatic abnormalities (size, number, complications) will be described based on hepato-bilio-pancreatic MRI. |
Countries
France
Contacts
Primary ContactRoland Chapurlat, MD, PhD
Backup ContactMélanie Legrand, MD
Outcome results
None listed