Laurence Amar
A5077098386- Hormonal Regulation and Hypertension
- Adrenal and Paraganglionic Tumors
- Pituitary Gland Disorders and Treatments
- Cancer, Hypoxia, and Metabolism
- Blood Pressure and Hypertension Studies
- Adrenal Hormones and Disorders
- Renal and Vascular Pathologies
- Aortic aneurysm repair treatments
- Cardiovascular, Neuropeptides, and Oxidative Stress Research
- Abdominal vascular conditions and treatments
- MicroRNA in disease regulation
- Diet and metabolism studies
- Pharmacogenetics and Drug Metabolism
- Glioma Diagnosis and Treatment
- Cardiovascular Health and Disease Prevention
- Cerebrovascular and Carotid Artery Diseases
- RNA modifications and cancer
- Cardiovascular Issues in Pregnancy
- Estrogen and related hormone effects
- Ion Transport and Channel Regulation
- Animal Genetics and Reproduction
- Microbial Community Ecology and Physiology
- RNA Research and Splicing
- Protist diversity and phylogeny
- Sodium Intake and Health
Hôpital Européen Georges-Pompidou
2016-2025
Université Paris Cité
2016-2025
Inserm
2016-2025
Paris Cardiovascular Research Center
2015-2025
Assistance Publique – Hôpitaux de Paris
2016-2025
Sorbonne Paris Cité
2014-2025
University of Dundee
2025
University of Turin
2017-2025
Université Sorbonne Paris Nord
2025
Hôpital Européen
2015-2024
To assess the yield and clinical value of systematic screening susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl).We studied 314 a pheo pgl, including 56 having family history and/or syndromic presentation 258 an apparently sporadic presentation. Clinical data blood samples were collected, all five major pheo-pgl (RET, VHL, SDHB, SDHD, SDHC) screened. Neurofibromatosis type 1 was diagnosed from phenotypic criteria.We have identified 86 (27.4%)...
A higher risk of cardiovascular events has been reported in patients with primary aldosteronism (PA) than otherwise similar essential hypertension (EH). However, the evidence is limited by small sample size and potential confounding factors. We, therefore, compared prevalence 459 PA diagnosed our unit from 2001 to 2006 1290 controls EH. cases EH were individually matched for sex, age (±2 years), office systolic blood pressure (±10 mm Hg). Patients differed significantly duration...
Abstract Context: Pheochromocytomas and paragangliomas may be malignant either at presentation or during recurrence, but the clinical course of tumors is unpredictable. Objective: The objective was to analyze survival according characteristics diagnosis malignancy presence absence SDHB mutations. Design: This a retrospective cohort study. Setting Participants: A total 54 patients with were included. Malignancy scored metastases histologically documented lymph node invasion. Main Outcome...
Pheochromocytoma or secreting paraganglioma may recur after initial surgery. Diagnostic methods have improved in recent decades. We determined whether features at presentation changed over time and are associated with long-term outcome. In 192 patients pheochromocytoma/paraganglioma seen between 1975 2003, we compared from onset of hypertension to first operation, total metanephrine excretion, tumor size site, the proportion cases presenting as incidentalomas, probability recurrence...
Malignant pheochromocytoma (PCC) and paraganglioma (PGL) are mostly caused by germline mutations of SDHB, encoding a subunit succinate dehydrogenase. Using whole-exome sequencing, we recently identified mutation in the FH gene fumarate hydratase, PCC with an 'SDH-like' molecular phenotype. Here, investigated role PCC/PGL predisposition, screening for large international cohort patients. We screened 598 patients without known susceptibility genes. searched deletions, direct sequencing...
Germline mutations in SDHx genes cause hereditary paraganglioma.The aim of the study was to assess indications for succinate dehydrogenase (SDH) genetic testing a prospective study.A total 445 patients with head and neck and/or thoracic-abdominal or pelvic paragangliomas were recruited over 5 yr 20 referral centers. In addition classical direct sequencing SDHB, SDHC, SDHD genes, two methods detecting large genomic deletions duplications used, quantitative multiplex PCR short fluorescent...
In patients who seek surgical cure of primary aldosteronism (PA), The Endocrine Society Guidelines recommend the use adrenal vein sampling (AVS), which is invasive, technically challenging, difficult to interpret, and commonly held be risky. aim this study was determine complication rate AVS ways in it performed interpreted at major referral centers. Adrenal Vein Sampling International Study an observational, retrospective, multicenter conducted centers for endocrine hypertension worldwide....
Pheochromocytomas (PCC) and paragangliomas (PGL) are genetically heterogeneous neural crest-derived neoplasms. Recently we identified germline mutations in a new tumor suppressor susceptibility gene, MAX (MYC-associated factor X), which predisposes carriers to PCC. How contribute PCC/PGL associated phenotypes remain unclear. This study aimed examine the prevalence phenotypic features of somatic PCC/PGL.We sequenced 1,694 patients with PCC or PGL (without other major genes) from 17...
Pheochromocytomas and paragangliomas are neuroendocrine tumors that occur in the context of inherited cancer syndromes ∼30% cases linked to germline mutations VHL, RET, NF1, SDHA, SDHB, SDHC, SDHD, SDHAF2 TMEM127 genes. Although genome-wide expression studies have revealed some mechanisms likely be involved pheochromocytoma/paraganglioma tumorigenesis, complete molecular distinction all subtypes hereditary has not been solved genetic events generation sporadic unknown. With these purposes...
Primary aldosteronism is the most common form of secondary hypertension. Somatic mutations in KCNJ5 , ATP1A1 ATP2B3 and CACNA1D have been described aldosterone-producing adenomas (APAs). Our aim was to investigate prevalence somatic these genes unselected patients with APA (n=474), collected through European Network for Study Adrenal Tumors. Correlations clinical biochemical parameters were first analyzed a subset 199 from single center then replicated 2 additional centers. heterozygous...
Primary aldosteronism is the most common form of secondary hypertension. Mutations in KCNJ5 gene have been described recently aldosterone-producing adenomas (APAs). The aim this study was to investigate prevalence mutations unselected patients with primary and their clinical, biological molecular correlates. sequencing performed on somatic (APA, n=380) peripheral n=344; bilateral adrenal hyperplasia, n=174) DNA aldosteronism, collected through European Network for Study Adrenal Tumors....
: Autonomous aldosterone overproduction represents the underlying condition of 5-10% patients with arterial hypertension and carries a significant burden mortality morbidity. The diagnostic algorithm for primary aldosteronism is sequentially based on hormonal tests (screening confirmation tests), followed by lateralization studies (adrenal CT scanning adrenal venous sampling) to distinguish between unilateral bilateral disease. Despite recommendations Endocrine Society guideline, largely...
Malignant pheochromocytoma and paraganglioma (MPP) are characterized by prognostic heterogeneity. Our objective was to look for parameters of overall survival (OS) in MPP patients. Retrospective multicenter study a neck-thoraco-abdomino-pelvic CT or MRI at the time malignancy diagnosis European centers between 1998 2010. One hundred sixty-nine patients from 18 were included. Main characteristics with were: primary 53% patients; tumor- hormone-related symptoms 57% 58% cases; positive plasma...