Publications by authors named "C Cardot-Bauters"
Article Synopsis
- - Pheochromocytoma and paraganglioma (PPGL) are rare tumors with a significant genetic component, leading to the need for genetic screening for specific variants.
- - Over 21 years (2001-2022), an endocrine oncogenetic lab studied 606 PPGL cases, using both traditional Sanger sequencing and modern next-generation sequencing (NGS) to identify genetic variants in patients and their relatives.
- - The study found that 27.2% of index cases had pathogenic variants, with variability in symptoms and tumor characteristics among different families, emphasizing the importance of genetic screening for tailored patient management.
Article Synopsis
- APECED syndrome is a rare genetic disorder caused by mutations in the AIRE gene, typically characterized by a triad of symptoms including hypoparathyroidism, adrenal failure, and chronic mucocutaneous candidiasis (CMC), along with other non-endocrine issues.
- In a national study involving 25 patients from 23 families, researchers identified 11 different variants of the AIRE gene, including two previously unreported variants, and found that a majority of patients displayed multiple clinical manifestations.
- The study revealed significant immunological disturbances, such as NK cell lymphopenia and altered B lymphocyte homeostasis, and highlighted a variety of non-endocrine symptoms that could potentially be life-threatening, emphasizing the need for
Context: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear.
Objective: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients.
Objective: Carney complex (CNC) is a rare genetic syndrome, mostly due to germline loss-of-function pathogenic variants in PRKAR1A. Carney complex includes pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, and various breast benign tumors.
Design: The present study was designed to describe the characteristics of breast lesions in CNC patients and their association with other manifestations of CNC and PRKAR1A genotype.
French guidelines from the GTE, AFCE and ENDOCAN-RENATEN (Groupe d'étude des Tumeurs Endocrines/Association Francophone de Chirurgie Endocrinienne/Reseau national de prise en charge des tumeurs endocrines) for the screening, diagnosis and management of Multiple Endocrine Neoplasia Type 1.
Ann Endocrinol (Paris)
February 2024