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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Adults with polyostotic fibrous dysplasia McCune Albright syndrome | 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 |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Screening for hepato-bilio-pancreatic abnormalities in Fibrous dysplasia of bone /McCune Albright syndrome , description and characterization of the lesions. | Other | Data collection from hepato-bilio-pancreatic Magnetic Resonance Imaging realized during the follow up of patients with Fibrous dysplasia of bone /McCune Albright syndrome |
| 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. |
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Inclusion Criteria:
Exclusion Criteria:
-Opposition to data collection
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Primary care clinic
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Roland Chapurlat, MD, PhD | Contact | + 33 (0)4 72 11 74 82 | roland.chapurlat@chu-lyon.fr | |
| Mélanie Legrand, MD | Contact | + 33 (0)4 72 11 74 79 | melanie.legrand@chu-lyon.fr |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHU Angers | Not yet recruiting | Angers | 49100 | France |
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| Groupe Hospitalier Pellegrin - Chu | Not yet recruiting | Bordeaux | 33076 | France |
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| CHU de Brest - Hôpital de la Cavale Blanche | Not yet recruiting | Brest | 29609 | France |
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| Chu de Caen Normandie | Not yet recruiting | Caen | 14000 | France |
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| Chu de Clermont-Ferrand | Not yet recruiting | Clermont-Ferrand | 63000 | France |
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| Chu de Lille | Not yet recruiting | Lille | France |
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| Service Rhumatologie, pavillon F Hopital E. Herriot | Not yet recruiting | Lyon | 69437 | France |
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| Assistance Publique - Hopitaux de Marseille (Ap-Hm | Not yet recruiting | Marseille | 13009 | France |
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| Chu de Montpellier | Not yet recruiting | Montpellier | 34295 | France |
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| CHU de Nice | Not yet recruiting | Nice | 06200 | France |
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| Assistance Publique - Hopitaux de Paris (Ap-Hp) | Not yet recruiting | Paris | 75010 | France |
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| CHU de Poitiers | Not yet recruiting | Poitiers | 86000 | France |
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| Chu de Rennes | Not yet recruiting | Rennes | 35203 | France |
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| Chu de Saint-Etienne | Recruiting | Saint-Etienne | 42055 | France |
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| Hopitaux Universitaires de Strasbourg | Not yet recruiting | Strasbourg | 67091 | France |
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| Chu de Toulouse | Not yet recruiting | Toulouse | 31300 | France |
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| ID | Term |
|---|---|
| D005357 | Fibrous Dysplasia of Bone |
| D005359 | Fibrous Dysplasia, Polyostotic |
| D010190 | Pancreatic Neoplasms |
| ID | Term |
|---|---|
| D010009 | Osteochondrodysplasias |
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
| D009369 | Neoplasms |
| D004701 | Endocrine Gland Neoplasms |
| D004066 | Digestive System Diseases |
| D010182 | Pancreatic Diseases |
| D004700 | Endocrine System Diseases |
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| ID | Term |
|---|---|
| D008403 | Mass Screening |
| ID | Term |
|---|---|
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D006306 | Health Surveys |
| D011795 | Surveys and Questionnaires |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D003954 | Diagnostic Services |
| D011314 | Preventive Health Services |
| D006296 | Health Services |
| D005159 | Health Care Facilities Workforce and Services |
| D017531 | Health Care Evaluation Mechanisms |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |
| D015980 | Public Health Practice |
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