Anne Jouinot's research while affiliated with Université Paris Nanterre and other places

Publications (147)

Article
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Background Arterial hypertension represents a worldwide health burden and a major risk factor for cardiovascular morbidity and mortality. Hypertension can be primary (primary hypertension, PHT), or secondary to endocrine disorders (endocrine hypertension, EHT), such as Cushing's syndrome (CS), primary aldosteronism (PA), and pheochromocytoma/paraga...
Article
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Introduction Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by bilateral adrenal macronodules responsible for adrenal Cushing. To date, two genetic causes of PBMAH are known: germline inactivating variants of the tumor suppressor genes ARMC5 identified in 2013 (Assié, N Eng J Med 2013), responsib...
Article
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Objective Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. PBMAH can be caused by germline inactivating variants of the tumor suppressor gene ARMC5. We aimed to better characte...
Article
Objectives: After bilateral adrenalectomy in Cushing’s disease, corticotroph tumor progression occurs in one third to half of patients. However, progression speed is variable, ranging from slow to rapid. The aim was to explore corticotroph progression speed, its consequences and its risk factors. Design: a retrospective single center observational...
Article
Introduction L’hyperplasie macronodulaire bilatérale des surrénales (HMBS) est une cause hétérogène d’autonomie surrénalienne de sécrétion de cortisol. Cette sécrétion peut être modulée dans l’HMBS par l’expression de récepteurs illégitimes, comme le récepteur du GIP, responsable de l’hypercortisolisme dépendant de l’alimentation, causé par des mut...
Article
La prédiction de l’agressivité des tumeurs neuroendocrines hypophysaires (PitNETs) est un besoin aujourd’hui fondamental. La première classification multi-omique des PitNETs a démontré une structure basée sur le lignage [1]. Les signatures d’agressivité semblent bien moins déterminantes dans la classification, potentiellement spécifiques de chaque...
Article
Objectif L’hypertension artérielle est un facteur de risque majeur de morbidité et mortalité cardiovasculaire. Contrastant avec l’hypertension essentielle, majoritaire, l’hypertension peut être secondaire au syndrome de Cushing (CS), à l’hyperaldosteronisme primaire (PA), au pheochromocytome/paragangliome (PPGL). Leur détection efficace reste fonda...
Article
In the elective field of adrenal imaging, artificial intelligence (AI) can be used for adrenal lesion detection, characterization, hypersecreting syndrome management and patient follow-up. Although a perfect AI tool that includes all required steps from detection to analysis does not exist yet, multiple AI algorithms have been developed and tested...
Article
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Objective The management of giant pituitary tumors is complex, with few publications and recommendations. Consequently, patient’s care mainly relies on clinical experience. We report here a first large series of patients with giant pituitary tumors managed by a multidisciplinary expert team, focusing on treatments and outcome. Methods A retrospect...
Article
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Background: Nivolumab improved patients' survival in metastatic renal cell carcinoma (mRCC). We aimed to evaluate resting energy expenditure (REE) (i.e., patients' basal metabolism) to predict efficacy. Methods: We conducted a monocentric, observational study of mRCC patients receiving nivolumab between October 2015 and May 2020. REE was measure...
Article
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Background: Pazopanib (PAZ) is an oral angiogenesis inhibitor approved to treat soft tissue sarcoma (STS) but associated with a large interpatient pharmacokinetic (PK) variability and narrow therapeutic index. We aimed to define the specific threshold of PAZ trough concentration (Cmin) associated with better progression-free survival (PFS) in STS...
Article
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Objective: Large response of steroids precursors, including 17-hydroxyprogesterone, to ACTH has been described in adrenocortical tumors, suggesting the existence of intra-tumoral enzymatic deficiencies. This study aimed to compare steroidogenesis enzymes activity in unilateral and bilateral benign tumors using serum steroid profiling in LC-MS/MS i...
Preprint
Background. Pazopanib is an oral angiogenesis inhibitor approved to treat soft tissue sarcoma (STS) but associated with large interpatient pharmacokinetic (PK) variability and narrow therapeutic index. In order to improve its clinical use, this study aimed to define specific threshold of pazopanib trough concentration (Cmin) associated with better...
Article
Objective: Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH) is a heterogeneous disease characterized by adrenal macronodules and variable levels of cortisol excess, with not clearly established clinical diagnostic criteria. It can be caused by ARMC5 germline pathogenic variants. We aimed to identify predictive criteria for ARMC5 variants....
Article
Les corticosurrénalomes sont des tumeurs rares, au pronostic sombre, d’évolution restant difficilement prévisible à l’échelle individuelle. L’objectif de cette étude était d’évaluer la valeur pronostique des paramètres quantitatifs extraits de la TEP au 18-FDG dans les corticosurrénalomes. Entre 2008 et 2019, 41 patients traités à l’Hôpital Cochin...
Article
Background & Aims Predicting the risk of early limiting toxicity (ELT) is major challenge for the clinician seeking an effective, safe treatment for older patients with cancer. The Cancer and Aging Research Group (CARG) and CRASH (Chemotherapy Risk Assessment Scale for High-Age Patients) toxicity scores were designed to predict chemotherapy-related...
Article
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Design: Molecular classification is important for diagnosis and prognosis of adrenocortical tumors (ACT). Transcriptome profiles separate adrenocortical adenomas “C2” from carcinomas, and identify two groups of carcinomas “C1A” and “C1B”, of poor and better prognosis respectively. However, many ACT cannot be profiled because of improper or absent f...
Article
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Detection and characterization of adrenal lesions have evolved during the past two decades. Although the role of imaging in adrenal lesions associated with hormonal secretion is usually straightforward, characterization of non-functioning adrenal lesions may be challenging to confidently identify those that need to be resected. Although many adrena...
Article
Context Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit from specific care. Objective MEN1-mutated patients should be offered tailored tumor screening and...
Article
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Objective: Cushing’s syndrome represents a state of excessive glucocorticoids related to glucocorticoid treatments or to endogenous hypercortisolism. Cushing’s syndrome is associated with high morbidity, with significant inter-individual variability. Likewise, adrenal insufficiency is a life-threatening condition of cortisol deprivation. Currently,...
Article
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Purpose This study aimed to investigate the genetic cause of food-dependent Cushing syndrome (FDCS) observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) and adrenal ectopic expression of the glucose-dependent insulinotropic polypeptide receptor. Germline ARMC5 alterations have been reported in about 25% of PBMAH inde...
Article
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Background: Immune checkpoint inhibitors (ICI) are dramatically active in a minority of non-small cell lung cancer (NSCLC) patients. We studied here the relationship between patients's metabolism and outcome under ICI. Methods: Metastatic NSCLC patients underwent a nutritional assessment prior to initiating immunotherapy. Resting energy expendit...
Article
Les dosages hormonaux sur lesquels s’appuie le diagnostic d’hypercortisolisme ne reflètent pas les effets individuels d’imprégnation en glucocorticoïdes. Pour identifier des biomarqueurs spécifiques, le méthylome du sang total a été analysé (puce Illumina-850 K CpGs) dans 94 échantillons de 47 patients avec différent statut cortisolique -syndrome d...
Article
Introduction L’HMBPS est une maladie hétérogène, de l’hypercorticisme infraclinique au Cushing sévère. Cette variabilité pourrait s’expliquer dans un sous-groupe de patients par les mutations d’ARMC5 mais les causes moléculaires et leur conséquence restent à identifier pour les autres. Objectifs et méthodes Afin de mieux comprendre cette hétérogén...
Article
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Background The risk of drug–drug interactions (DDI) has become a major issue in cancer patients. However, data in sarcoma patients are scarce. We aimed to evaluate the frequency and the factors associated with DDI with antitumor treatments, and to evaluate the impact of a pharmacist evaluation before anticancer treatment.Patients and methodsWe perf...
Article
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Objective: Microprolactinomas are currently treated with dopamine agonists. Outcome information on microprolactinoma patients treated by surgery is limited. This study reports the first large series of consecutive non-invasive microprolactinoma patients treated by pituitary surgery and evaluates the efficiency and safety of this treatment. Design:...
Article
Full-text available
Background. Pazopanib (PAZ) is an angiogenesis inhibitor approved for the treatment of renal cell carcinoma (RCC) and soft tissue sarcoma (STS). A relationship was reported between PAZ trough concentration (Cmin) and progression free survival (PFS) in RCC (Suttle A.B. 2015; Verheijen R.B. 2017). However, information on the exposure-efficacy relatio...
Chapter
Adrenocortical cancer (ACC) is among the most aggressive endocrine tumours with an overall poor prognosis. Morbidity and mortality can be secondary to tumour-related steroid hormone excess and/or tumour growth and metastases. This potentially poor outcome explains why the early detection of adrenocortical malignancy is paramount for the investigati...
Chapter
This chapter focuses on endocrine tumours arising from endocrine glands, as defined by the World Health Organization 2017 classification: tumours of the pituitary, the thyroid, the parathyroid, the adrenal cortex, the adrenal medulla, and extra-adrenal paraganglia, and the neuroendocrine pancreas. These tumours share specific features in terms of p...
Article
Duodenopancreatic neuroendocrine tumors (DPNETs) aggressiveness is heterogeneous. Tumor grade and extension are commonly used for prognostic determination. Yet, grade classes are empirically defined, with regular up-dates changing the definition of classes. Genomic screening may provide more objective classes, and reflect tumor biology. The aim of...
Article
Introduction et but de l’étude Des altérations de la composition corporelle sont fréquemment associés au cancer. En particulier, la myopénie, quand elle est présente, induit une diminution de la qualité de vie, de l’efficacité et de la tolérance aux traitements et de la survie globale. Pour autant, les méthodes de référence d’évaluation de la compo...
Article
Introduction et but de l’étude Les altérations de la composition corporelle ont un impact majeur sur le devenir des patients en cancérologie. Il était donc légitime que l’évaluation de la composition corporelle intègre les recommandations concernant le diagnostic de la dénutrition telles qu’elles ont été revues par la HAS en novembre 2019. Le but d...
Article
Résumé Introduction et but de l’étude L’immunothérapie a révolutionné la prise en charge des patients atteints de cancer en ciblant le système immunitaire de l’hôte pour qu’il s’attaque aux cellules cancéreuses. L’intestin a un rôle majeur dans la modulation de la réponse immunitaire. Si le rôle du microbiote intestinal sur l’immunothérapie est bi...
Article
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The major prognosis factor of adrenocortical carcinoma (ACC) is the completeness of surgery. The aim of our study was to identify preoperative imaging features associated with direct liver involvement (DLI) by right-sided ACC. Two radiologists, blinded to the outcome, independently reviewed preoperative CT and MRI examinations for eight signs of DL...
Preprint
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Background: The risk of drug drug interactions (DDI) has become a major issue in cancer patient care. However, data in sarcoma patients are scarce. We aimed to evaluate the frequency of DDI with antitumor treatments, identify the risk factors for DDI and evaluate the impact of a pharmacist evaluation before anticancer treatment. Patients and Method...
Article
Introduction Le traitement du mélanome métastatique muté BRAF par dabrafénib en association avec le tramétinib se caractérise par une importante variabilité interindividuelle de la réponse clinique. Les objectifs de cette étude étaient d’étudier l’exposition plasmatique (aire sous la courbe, ASC) du dabrafénib (DAB), de son métabolite actif, l’hydr...
Article
Benign adrenal tumors cover a spectrum of lesions with distinct morphology and steroid secretion. Current classification is empirical. Beyond a few driver mutations, pathophysiology is not well understood. Here, a pangenomic characterization of benign adrenocortical tumors is proposed, aiming at unbiased classification and new pathophysiological in...
Article
Objectif Les corticosurrénalomes sont des cancers agressifs de pronostic hétérogène. Les marqueurs dérivés des signatures transcriptome « C1A » (stéroïde et prolifération) et « C1B » (immune) améliorent l’évaluation pronostique. Ils sont cependant peu utilisés en routine car non validés sur des tissus fixés, à cause de la dégradation de l’ARN indui...
Article
Le diagnostic d’hypercortisolisme repose sur les dosages hormonaux. Or ces dosages ne reflètent pas le risque individuel pour chaque complication de l’hypercortisolisme, car la susceptibilité interindividuelle varie, notamment dans les formes infra-cliniques. Objectif Identifier des biomarqueurs reflétant l’imprégnation individuelle en glucocortic...
Article
Récemment, nous avons généré la première classification génomique intégrée des tumeurs neuroendocrines hypophysaires (PitNETs). Objectif Explorer les implications cliniques de cette nouvelle classification. Méthodes Lèanalyse des données cliniques, hormonales et pathologiques de la série de 134 tumeurs caractérisées par la génomique. Résultats S...
Article
Introduction Le complexe de Carney (CNC) est un syndrome regroupant des néoplasies endocriniennes et non endocriniennes. Cette étude décrivant les caractéristiques des lésions mammaires des patientes avec CNC, les autres manifestations du CNC et le génotype PRKAR1A, s’est particulièrement intéressée aux carcinomes mammaires, cancer le plus fréquent...
Conference Paper
Background: Neoadjuvant chemotherapy with intercalated surgery is the standard of care for resectable high-grade bone sarcoma (BS) but identification of biomarkers for chemosensitivity prediction is still needed. Insulin-like Growth Factor (IGF) pathway was first linked with sarcoma biology approximately 30 years ago (El-Brady OM, 1990). Methods: W...
Article
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Background: The prognosis of adrenocortical carcinoma (ACC) is heterogeneous. Genomic studies have identified ACC subgroups characterized by specific molecular alterations, including features measured at DNA level (somatic mutations, chromosome alterations, DNA methylation), which are closely associated with outcome. The aim of this study was to ev...
Article
Background Lean body mass (LBM) is an important prognosis factor in cancer patients. Although the L3 CT-scan is considered as a reference method for its assessment, a convenient and easily available method for longitudinal follow-up is required. While bioelectrical impedance analysis (BIA) is widely used its accuracy is discussed; plasma creatinine...
Article
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Prostate cancer is one of the most commonly diagnosed cancers in men. A number of genomic and clinical studies have led to a better understanding of prostate cancer biology. Still, the care of patients as well as the prediction of disease aggressiveness, recurrence and outcome remain challenging. Here, we showed that expression of the gene ZBTB38 i...
Article
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Patients treated with dabrafenib/trametinib (DAB/TRA) exhibit a large interindividual variability in clinical outcomes. The aims of this study were to characterize the pharmacokinetics of DAB, hydroxy-dabrafenib (OHD), and TRA in BRAF-mutated patients and to investigate the exposure–response relationship for toxicity and efficacy in metastatic mela...
Article
490 Background: In mUC, 2nd line treatments after platinum-based regimen have limited efficacy, such as vinca-alkaloid, taxan or immune checkpoint inhibitors. PR is proposed by ESMO guidelines if progression occurs >12 months after initial exposure with low level of evidence. Our objectives were to assess if PR was associated with better outcomes c...
Article
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A large interindividual variability has been observed in anti Programmed cell Death 1 (anti-PD1) therapies efficacy. The aim of this study is to assess the correlation of soluble PD-1 (sPD-1), soluble Programmed cell Death Ligand 1 (sPD-L1), Vascular Endothelial Growth Factor A (VEGFA), soluble CD40 ligand (sCD40L) and soluble CD44 (sCD44), with su...
Article
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Background: Cancer and aging are both frequently associated with malnutrition, a factor of poor prognosis. In adult cancer patients, this may be related in part to impaired energy metabolism, with higher than predicted resting energy expenditure (REE) in about 50% of patients. We hypothesized that frequently impaired energy metabolism in elderly p...
Article
Pituitary neuroendocrine tumors (PitNETs) are common, with five main histological subtypes: lactotroph, somatotroph, and thyrotroph (POU1F1/PIT1 lineage); corticotroph (TBX19/TPIT lineage); and gonadotroph (NR5A1/SF1 lineage). We report a comprehensive pangenomic classification of PitNETs. PitNETs from POU1F1/PIT1 lineage showed an epigenetic signa...
Article
Background: The occurrence of severe, acute limiting toxicity in patients receiving anti-programmed cell death receptor-1 monoclonal antibodies, such as nivolumab, is largely unpredictable. Sarcopenia was found to be associated with anti-cytotoxic T-lymphocyte-associated protein 4 acute toxicity. We explore the clinical and pharmacological paramet...
Article
Background: Rates of adverse events with sorafenib were higher in the DECISION trial in radioactive iodine-refractory, advanced differentiated thyroid cancer (DTC) than in trials of sorafenib for other tumor types. One possible explanation is that sarcopenia, a known predictive factor of toxicity in patients with cancer, is more common in patients...
Chapter
Adrenocortical malignancies can occur in the context of several tumor predisposition syndromes.The Carney complex (CNC) is responsible for the majority of primary pigmented nodular adrenal diseases and is more rarely associated with adrenocortical carcinoma (ACC). Other core manifestations of CNC include cardiac and cutaneous myxomas, lentiginosis,...
Article
Background & aims Metastatic non-small cell lung cancer (NSCLC) is the first cause of cancer death worldwide. Increased resting energy expenditure (REE) is frequent among cancer patients and may contribute to cancer cachexia. The aim of this study was to examine the prognostic value of increased REE in metastatic NSCLC patients. Methods This obser...
Article
Full-text available
Importance The risk stratification of adrenocortical carcinoma (ACC) based on tumor proliferation index and stage is limited. Adjuvant therapy after surgery is recommended for most patients. Pan-genomic studies have identified distinct molecular groups closely associated with outcome. Objective To compare the molecular classification for prognosti...
Conference Paper
Context Anti-PD1 therapy nivolumab has been approved for the treatment of advanced non-small cell lung cancer (NSCLC). However, a large inter-individual variability in its efficacy has been observed. Thus, the search for reliable factors to predict anti-PD1 efficacy represents a major challenge, particularly in NSCLC patients. The aim of this prosp...
Conference Paper
Introduction: Studies of soft-tissue sarcomas (STS) and therapeutic outcomes are limited by their rarity and heterogeneity. Despite intensive treatment, including chemotherapy, surgery and radiation therapy, 30% of patients develop recurrent disease, and the outcome of the patients with recurrent or metastatic sarcomas remains poor. The SARC028 pha...