Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone/McCune Albright Syndrome

Study Overview
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Brief Summary
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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.

Official Title
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Screening and Epidemiology of Hepato-pancreato-biliary Abnormalities in Fibrous Dysplasia of Bone /McCune Albright Syndrome: the TIM-DYS Study

Conditions
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Fibrous Dysplasia of Bone

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


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 100 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Adults with polyostotic fibrous dysplasia McCune Albright syndrome<br>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 | Other: Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions.<br>* Data collection from hepato-bilio-pancreatic Magnetic Resonance Imaging realized during the follow up of patients with Fibrous dysplasia of bone /McCune Albright syndrome<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Describe hepato-bilio-pancreatic abnormalities in FD/MAS and estimate the prevalence of IPMN. | Hepato-bilio-pancreatic abnormalities (size, number, complications) will be described based on hepato-bilio-pancreatic MRI. | hepato-bilio-pancreatic MRI performed from January 2002 until December 2024. | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Fibrous dysplasia of bone, McCune Albright syndrome, pancreatic neoplasms, IPMN