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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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Cohort CNC-PPNAD will be investigated with clinical, genetic, biological and imaging work-up every year during 3 years. Cohort L-MC will be investigated clinically at inclusion and a PERKAR1A genotype will be performed.
The primary aim is to assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD) in patients with CNC, isolated PPNAD or carriers of PRKAR1A and PPNAD1 (PDE11A4) germline mutation (Cohort CNC-PPNAD). In this cohort genotype/phenotype correlation will be studied. A second aim is to determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis (Cohort L-MC).
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CNC | Primary pigmented nodular adrenocortical disease (PPNAD) and the Carney complex (CNC) | ||
| MC-L | cardiac myxoma or isolated lentiginosis |
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| Measure | Description | Time Frame |
|---|---|---|
| To assess the clinical manifestations of the CARNEY Complex (CNC) and/or the primary pigmented nodular adrenocortical disease (PPNAD) | 6 months |
| Measure | Description | Time Frame |
|---|---|---|
| Genotype/phenotype correlation. To determine the frequency of PRKAR1A germline mutation in patients with isolated cardiac myxoma or isolated lentiginosis. | 6 months |
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Inclusion Criteria:
CNC group :
MC-L group :
Exclusion criteria :
CNC group and MC-L group:
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Consultations
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| Name | Affiliation | Role |
|---|---|---|
| Jerome Bertherat, MD PH | Assistance Publique - Hôpitaux de Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Hôpital Cochin | Paris | 75679 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31912137 | Result | Espiard S, Vantyghem MC, Assie G, Cardot-Bauters C, Raverot G, Brucker-Davis F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre O, Houang M, Bottineau M, Stroer S, Groussin L, Guignat L, Cabanes L, Feydy A, Bonnet F, North MO, Dupin N, Grabar S, Duboc D, Bertherat J. Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up. J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa002. doi: 10.1210/clinem/dgaa002. | |
| 16756677 |
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| ID | Term |
|---|---|
| C566469 | Pigmented Nodular Adrenocortical Disease, Primary, 1 |
| D056733 | Carney Complex |
| ID | Term |
|---|---|
| D009232 | Myxoma |
| D009372 | Neoplasms, Connective Tissue |
| D018204 | Neoplasms, Connective and Soft Tissue |
| D009370 | Neoplasms by Histologic Type |
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2 tubes EDTA 5 mL each (DNA) and 2 tubes heparine 5 mL each (cellular biology)
| Result |
| Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006 Jun 6;1:21. doi: 10.1186/1750-1172-1-21. |
| 10973256 | Result | Kirschner LS, Carney JA, Pack SD, Taymans SE, Giatzakis C, Cho YS, Cho-Chung YS, Stratakis CA. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. doi: 10.1038/79238. |
| 4010501 | Result | Carney JA, Gordon H, Carpenter PC, Shenoy BV, Go VL. The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine (Baltimore). 1985 Jul;64(4):270-83. doi: 10.1097/00005792-198507000-00007. |
| 38252880 | Derived | Vaduva P, Violon F, Jouinot A, Bouys L, Espiard S, Bonnet-Serrano F, North MO, Cardot-Bauters C, Raverot G, Hieronimus S, Lefebvre H, Nunes ML, Tabarin A, Groussin L, Assie G, Sibony M, Vantyghem MC, Pasmant E, Bertherat J. Carney complex predisposes to breast cancer: prospective study of 50 women. Eur J Endocrinol. 2024 Feb 1;190(2):121-129. doi: 10.1093/ejendo/lvae010. |
| D009369 | Neoplasms |
| D006338 | Heart Neoplasms |
| D013899 | Thoracic Neoplasms |
| D009371 | Neoplasms by Site |
| D006331 | Heart Diseases |
| D002318 | Cardiovascular Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012868 | Skin Abnormalities |