Publications by authors named "Pauline Romanet"

Objective: Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a rare neurodevelopmental syndrome, resulting from germline heterozygous CSNKB2 pathogenic variants. The main presentations are severe epilepsy, delayed psychomotor development, and/or profound intellectual disability. More recently, CSNK2B pathogenic variants have been reported in patients with mild intellectual disability and no history of epileptic symptoms.

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  • Deficient Anterior pituitary with common Variable Immune Deficiency (DAVID) syndrome is caused by heterozygous mutations leading to adrenocorticotropic hormone deficiency and immune system issues.
  • Researchers created pituitary organoids from edited human stem cells to study how specific genetic mutations affect pituitary development and found that these mutations significantly reduced the number of hormone-producing cells called corticotrophs.
  • The study identified changes in gene expression related to pituitary development and suggested that the observed mutations have a direct impact on endocrine function, classifying them as pathogenic for pituitary development.
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Multiple endocrine neoplasia (MEN) is a group of rare genetic diseases characterized by the occurrence of multiple tumors of the endocrine system in the same patient. The first MEN described was MEN1, followed by MEN2A, and MEN2B. The identification of the genes responsible for these syndromes led to the introduction of family genetic screening programs.

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  • * The French Endocrine Society and associated organizations created a reference document to address the complexities of managing these tumors, which can recur and lead to serious health issues, including impaired quality of life for patients, especially those with hypothalamic syndrome.
  • * Recent research has identified two tumor types—papillary and adamantinomatous—with different molecular signatures and treatment strategies, prompting ongoing developments in therapeutic options, including new medications for associated symptoms like hyperphagia.
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Purpose: Multiple endocrine neoplasia type 1 (MEN1) is thought to increase the risk of meningioma and ependymoma. Thus, we aimed to describe the frequency, incidence, and specific clinical and histological features of central nervous system (CNS) tumors in the MEN1 population (except pituitary tumors).

Experimental Design: The study population included patients harboring CNS tumors diagnosed with MEN1 syndrome after 1990 and followed up in the French MEN1 national cohort.

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Multiple endocrine neoplasia (MEN) is a group of syndromes with a genetic predisposition to the appearance of endocrine tumors, and shows autosomal dominant transmission. The advent of molecular genetics has led to improvements in the management of MEN in terms of diagnosis, prognosis and therapy. The genetics of MEN is the subject of regular updates, which will be presented throughout this paper.

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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.

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Purpose: The aims of the study were to evaluate the performance and robustness of [F]fluorocholine PET/CT in detecting hyperfunctioning parathyroid glands in MEN1-related primary hyperparathyroidism (pHPT) at different stages of their disease.

Methods: Retrospective French multicenter study including patients with MEN1 pHPT who underwent [F]fluorocholine PET/CT at initial diagnosis or for evaluation of persistent/recurrent disease. PET/CT were independently reviewed by two readers in a blinded manner.

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Background: The von Hippel-Lindau (VHL) disease is a hereditary tumour syndrome caused by germline mutations in tumour suppressor gene. The identification of variants requires accurate classification which has an impact on patient management and genetic counselling.

Methods: The TENGEN (French oncogenetics network of neuroendocrine tumors) and PREDIR (French National Cancer Institute network for Inherited predispositions to kidney cancer) networks have collected genetic variants and clinical characteristics of all VHL-suspected patients analysed from 2003 to 2021 by one of the nine laboratories performing genetic testing in France.

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  • Prolactinomas account for a significant portion of pituitary adenomas, yet the genetic factors behind these tumors remain largely unexplored, prompting a study of hereditary links.
  • The study analyzed genetic and clinical data from 506 patients with isolated prolactinomas, discovering that 2.8% carried pathogenic variants in key genes related to tumor predisposition, particularly among those diagnosed before age 30.
  • No relevant mutations were found in patients over 30, highlighting the importance of focusing on younger patients and those with a family history when assessing genetic risks for prolactinomas.
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Medullary thyroid cancer (MTC) is a rare disease, which can be either sporadic (roughly 75% of cases) or genetically determined (multiple endocrine neoplasia type 2, due to REarranged during Transfection germline mutations, 25% of cases). Interestingly, pathogenic variants (mainly M918T) have also been reported in aggressive forms of sporadic MTC, suggesting the importance of signalling pathways in the pathogenesis of MTC. The initial theory of codon-related MTC aggressiveness has been recently questioned by studies suggesting that this would only define the age at disease onset rather than the aggressiveness of MTC.

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Introduction: Prolactinomas are the most frequent type of pituitary adenoma encountered in clinical practice. Dopamine agonists (DA) like cabergoline typically provide sign/ symptom control, normalize prolactin levels and decrease tumor size in most patients. DA-resistant prolactinomas are infrequent and can occur in association with some genetic causes like MEN1 and pathogenic germline variants in the gene (AIPvar).

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Context: Familial hypocalciuric hypercalcemia type 1 (FHH-1) defines an autosomal dominant disease, related to mutations in the CASR gene, with mild hypercalcemia in most cases. Cases of FHH-1 with a short QT interval have not been reported to date.

Objective: Three family members presented with FHH-1 and short QT interval (<360 ms), a condition that could lead to cardiac arrhythmias, and the effects of cinacalcet, an allosteric modulator of the CaSR, in rectifying the abnormal sensitivity of the mutant CaSR and in correcting the short QT interval were determined.

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Deficient anterior pituitary with common variable immune deficiency (DAVID) syndrome is a rare condition characterized by adrenocorticotropic hormone (ACTH) deficiency and primary hypogammaglobulinemia. It is due to heterozygous mutations of the nuclear factor kappa-B subunit 2 (NFKB2) gene. Only a few isolated cases have been reported since its first description by our team.

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  • The study investigates mosaicism in patients suspected of having multiple endocrine neoplasia type 1 (MEN1), a genetic disorder, using advanced sequencing techniques.
  • By applying digital targeted next-generation sequencing, the researchers found MEN1 mosaic pathogenic variants in three out of 119 patients, indicating a detection rate of 17% among those with three or more MEN1 lesions.
  • The findings suggest that MEN1 mosaicism may be more common than previously recognized, highlighting the importance of using sophisticated genetic testing methods for accurate diagnosis.
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Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by inactivating mutations in the MEN1 gene. In the literature, few cases of MEN1 have been reported because of mosaic MEN1 mutations.

Objective: We performed an extensive molecular characterization in several lesions and blood samples, including plasmatic circulating cell-free DNA (ccfDNA) in an exceptional case of a patient with MEN1 mosaicism causing primary hyperparathyroidism, multiple pancreatic neuroendocrine tumors (NETs), and a metastatic thymic NET.

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  • * The study reviews six cases of MEN1 mosaicism from the literature alongside six additional cases reported by the French TENgen network.
  • * Findings indicate that MEN1 mosaicism has a similar severity as typical MEN1 mutations and calls for better detection methods to enhance patient monitoring and genetic counseling.
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Context: Despite the growing evidence of the clinical value of somatostatin receptor (SSTR) positron emission tomography (PET) in the evaluation of neuroendocrine tumors (NETs), its role remains to be clarified at different time points in the journey of patients with multiple endocrine neoplasia type 1 (MEN1). The rarity of the disease is however a significant impediment to prospective clinical trials.

Objective: The goals of the study were to assess the indications and value of SSTR PET/computed tomography (CT) in patients with MEN1.

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