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Dive into the research topics where Carole Guerin is active.

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Featured researches published by Carole Guerin.


European Journal of Endocrinology | 2016

MANAGEMENT OF ENDOCRINE DISEASE: Outcome of adrenal sparing surgery in heritable pheochromocytoma

Frederic Castinetti; David Taïeb; Jean-François Henry; Martin K. Walz; Carole Guerin; Thierry Brue; Bernard Conte-Devolx; Hartmut Neumann; F. Sebag

The management of hereditary pheochromocytoma has drastically evolved in the last 20 years. Bilateral pheochromocytoma does not increase mortality in MEN2 or von Hippel-Lindau (VHL) mutation carriers who are followed regularly, but these mutations induce major morbidities if total bilateral adrenalectomy is performed. Cortical sparing adrenal surgery may be proposed to avoid definitive adrenal insufficiency. The surgical goal is to leave sufficient cortical tissue to avoid glucocorticoid replacement therapy. This approach was achieved by the progressive experience of minimally invasive surgery via the transperitoneal or retroperitoneal route. Cortical sparing adrenal surgery exhibits <5% significant recurrence after 10 years of follow-up and normal glucocorticoid function in more than 50% of the cases. Therefore, cortical sparing adrenal surgery should be systematically considered in the management of all patients with MEN2 or VHL hereditary pheochromocytoma. Hereditary pheochromocytoma is a rare disease, and a randomized trial comparing cortical sparing vs classical adrenalectomy is probably not possible. This lack of data most likely explains why cortical sparing surgery has not been adopted in most expert centers that perform at least 20 procedures per year for the treatment of this disease. This review examined recent data to provide insight into the technique, its indications, and the results and subsequent follow-up in the management of patients with hereditary pheochromocytoma with a special emphasis on MEN2.


European Journal of Endocrinology | 2015

Preoperative imaging for focused parathyroidectomy: making a good strategy even better

Carole Guerin; Aoife J. Lowery; Sophie Gabriel; Frederic Castinetti; Melanie Philippon; Josiane Vaillant-Lombard; Anderson Loundou; Jean-François Henry; F. Sebag; David Taïeb

OBJECTIVE Surgical treatment for primary hyperparathyroidism (pHPT) has undergone a major paradigm shift during the last decades from bilateral cervicotomy with four-gland neck exploration to image-guided focused approaches. The primary objective of the present study was to compare the performances of parathyroid scintigraphy (PS), parathyroid ultrasonography (US), and the combination of both procedures for guiding a focused approach on the basis of modified interpretation criteria. METHODS Data from 199 patients operated for apparent sporadic pHPT and evaluated with US and PS using dual-isotope (123)I/(99m)Tc-sestamibi planar pinhole and single-photon emission computed tomography (SPECT) acqusitions were evaluated. RESULTS A total of 127 patients underwent a focused approach and the remainder had bilateral cervicotomy. In 42 cases, a focused approach was not performed due to the absence of concordant results between US and PS for a single-gland abnormality. Four patients had persistent disease and three had recurrent disease. A localizing preoperative PS had a sensitivity of 93.3%, positive predictive value of 85.8%, negative predictive value of 73.0%, and accuracy of 83.4% for predicting uniglandular disease. Additional SPECT images accurately localize posterior adenomas that are often missed by US. Compared with PS, US had a lower sensitivity (P<0.01). Our imaging protocol also enabled diagnosis of multiglandular disease in 60.6%. CONCLUSIONS PS using a highly sensitive dual-tracer subtraction method is the most accurate technique for directing a focused approach. PS could be sufficient for directing a focused approach in the presence of a negative US in two major circumstances: posterior locations due to acquired ectopia that could be missed by US, and previous history of thyroidectomy due to interpretation difficulties.


Endocrine-related Cancer | 2015

Copy number variations alter methylation and parallel IGF2 overexpression in adrenal tumors.

Helene Myrtue Nielsen; Alexandre How-Kit; Carole Guerin; Frederic Castinetti; Hans Kristian Moen Vollan; Catherine De Micco; Antoine Daunay; David Taïeb; Peter Van Loo; Céline Besse; Vessela N. Kristensen; Lise Lotte Hansen; Anne Barlier; F. Sebag; Jörg Tost

Overexpression of insulin growth factor 2 (IGF2) is a hallmark of adrenocortical carcinomas and pheochromocytomas. Previous studies investigating the IGF2/H19 locus have mainly focused on a single molecular level such as genomic alterations or altered DNA methylation levels and the causal changes underlying IGF2 overexpression are still not fully established. In the current study, we analyzed 62 tumors of the adrenal gland from patients with Conns adenoma (CA, n=12), pheochromocytomas (PCC, n=10), adrenocortical benign tumors (ACBT, n=20), and adrenocortical carcinomas (ACC, n=20). Gene expression, somatic copy number variation of chr11p15.5, and DNA methylation status of three differential methylated regions of the IGF2/H19 locus including the H19 imprinting control region were integratively analyzed. IGF2 overexpression was found in 85% of the ACCs and 100% of the PCCs compared to 23% observed in CAs and ACBTs. Copy number aberrations of chr11p15.5 were abundant in both PCCs and ACCs but while PCCs retained a diploid state, ACCs were frequently tetraploid (7/19). Loss of either a single allele or loss of two alleles of the same parental origin in tetraploid samples resulted in a uniparental disomy-like genotype. These copy number changes correlated with hypermethylation of the H19 ICR suggesting that the lost alleles were the unmethylated maternal alleles. Our data provide conclusive evidence that loss of the maternal allele correlates with IGF2 overexpression in adrenal tumors and that hypermethylation of the H19 ICR is a consequence thereof.


The Journal of Clinical Endocrinology and Metabolism | 2017

Performance of 18F-FDG PET/CT in the Characterization of Adrenal Masses in Noncancer Patients: A Prospective Study

Carole Guerin; François Pattou; Laurent Brunaud; Jean-Christophe Lifante; E. Mirallié; Magalie Haissaguerre; Damien Huglo; Pierre Olivier; Claire Houzard; Catherine Ansquer; Elif Hindié; Anderson Loundou; Cendrine Archange; Antoine Tabarin; F. Sebag; Karine Baumstarck; David Taïeb

Context Few prospective studies have evaluated the role of 18F-fluorodeoxyglucose positron emission tomography/computed tomography (18F-FDG PET/CT) in the characterization of adrenal masses. Objective To assess the performance of 18F-FDG PET/CT in the malignancy diagnosis of adrenal masses in noncancer patients. Design Prospective multicenter study. Material and Methods The study population consisted of 87 patients (87 adrenal masses) referred to endocrine surgeons: 56 with mass diameter ≥40 mm and 31 with a diameter <40 mm and of indeterminate nature based on unenhanced and washout CT attenuation densities. Fourteen patients had hypercortisolism. Adrenal masses were characterized by 18F-FDG PET/CT. Histology was the gold standard for the diagnosis of malignancy. In the absence of pathological proof (n = 23), the nature of the lesion was based on the 12-month imaging follow-up. Results Fifteen adrenal masses were classified as malignant (including 11 adrenocortical carcinomas) and 72 as benign. Compared with benign lesions, malignant lesions were larger in size (P = 0.003), had higher unenhanced densities (P = 0.002), lower relative washout values (P = 0.007), and higher 18F-FDG uptake parameters (P < 10-3). The optimal threshold value of (Tumor SUVmax:Liver SUVmax) the ratio for malignancy was >1.5 with sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of 86.7%, 86.1%, 56.5%, 96.9%, and 86.2%, respectively. Conclusions Our results show that 18F-FDG PET/CT complements adrenal washout CT in the evaluation of adrenal masses and should be recommended in the evaluation of large and/or indeterminate adrenal masses.


European Journal of Endocrinology | 2014

Bilateral neck exploration in patients with primary hyperparathyroidism and discordant imaging results: a single-centre study

Melanie Philippon; Carole Guerin; David Taïeb; Josiane Vaillant; Isabelle Morange; Thierry Brue; Bernard Conte-Devolx; Jean-Franois Henry; Evelyne Slotema; Frederic Sebag; Frederic Castinetti

INTRODUCTION Focused parathyroidectomy is the treatment of choice for patients with concordant positive imaging. Bilateral cervical exploration is performed for cases with discordant imaging, yet more than 70% of those cases are the result of a single-gland disease. As focused parathyroidectomy is generally costless and harmless, for cases with discordant imaging, we tried to determine whether preoperative characteristics can lead to a diagnosis of single-gland disease. METHODS This study included 182 patients treated for primary hyperparathyroidism by bilateral exploration from 2009 to 2012 at La Timone Hospital, Marseille, France. We classified patients based on preoperative images and pathological results (single-gland or multiglandular disease). We then compared the demographical, laboratory and imaging results. We also asked a senior nuclear medicine practitioner who was blind to the ultrasound and pathological results to perform a second reading. RESULTS Of the total number of patients, 15.4% had negative, 54.4% discordant and 30.2% concordant imaging. After reviewing the scintigraphy results, 8% of the cases with discordant imaging would have been classified as concordant with ultrasound. Subtraction scintigraphy obtained better results than dual-phase scintigraphy (concordance with ultrasound in 50 vs 31% with classical scintigraphy). For the cases of discordant imaging, no predictive factors of single-gland disease could be identified. Ultrasound and scintigraphy were similarly effective in determining the correct location of the abnormal gland. CONCLUSION Discordant results of preoperative imaging modalities do not discriminate between uniglandular and multiglandular diseases in hyperparathyroidism. Diagnostic differentiation between the different causes of hyperparathyroidism requires improvements in imaging techniques and might benefit from subtraction scintigraphy.


Endocrine Pathology | 2017

Pathological and Genetic Characterization of Bilateral Adrenomedullary Hyperplasia in a Patient with Germline MAX Mutation

Pauline Romanet; Carole Guerin; Pascal Pedini; Wassim Essamet; Frederic Castinetti; F. Sebag; Philippe Roche; Alberto Cascón; Arthur S. Tischler; Karel Pacak; Anne Barlier; David Taïeb

In recent years, familial pheochromocytoma (PHEO) with germline mutations in the MAX (MYC associated factor X) gene has been reported in a few cases. Here, we investigated a 25–year-old patient with multiple PHEOs associated with a non-sense germline MAX mutation. Preoperative 18F-FDOPA PET/CT revealed bilateral adrenal involvement with multiple tumors. In addition, both adrenal glands were found to have diffuse or nodular adrenal medullary hyperplasia (AMH), a histopathological feature previously described as a precursor of MEN2- and SDHB-related PHEOs but not MAX. After bilateral adrenalectomy, different paraffin-embedded and frozen samples were analyzed for allelic imbalances of the MAX gene using allelic quantification by pyrosequencing. The expression of the protein MAX was studied by immunohistochemistry. All PHEOs but also nodular AMH exhibited a loss of the normal allele. By contrast, the diffuse AMH did not show loss-of-heterozygosity. Nevertheless, immunohistochemistry demonstrated loss of protein MAX expression in all samples including diffuse hyperplasia, suggesting a causative role of MAX mutation for both PHEOs and AMH. The present case shows that both nodular and diffuse AMH belongs to the spectrum of MAX-related disease. These data support the possible continuum between nodular AMH and PHEO, expanding the qualification of micro-PHEO to nodular AMH.


The Journal of Clinical Endocrinology and Metabolism | 2018

18F-FDOPA PET/CT Imaging of MAX-Related Pheochromocytoma

David Taïeb; Abhishek Jha; Carole Guerin; Ying Pang; Karen T. Adams; Clara C. Chen; Pauline Romanet; Philippe Roche; Wassim Essamet; Alexander Ling; Martha Quezado; Frederic Castinetti; F. Sebag; Karel Pacak

Context MYC-associated factor X (MAX) has been recently described as a new susceptibility pheochromocytoma (PHEO) gene with a total of ~40 reported cases. At present, no study has specifically described the functional imaging phenotype of MAX-related PHEO. Objective, Patients, and Design The objective of the present study was to present our experience with contrast-enhanced computed tomography (CT) and 18F-fluorodihydroxyphenylalanine (18F-FDOPA) positron emission tomography (PET)/CT in six consecutive patients (four at the initial diagnosis and two at the follow-up evaluation) with rare, but clinically important, MAX-related PHEOs. In five patients, 18F-FDOPA was also compared with other radiopharmaceutical agents. Results The patients had five different mutations in the MAX gene that caused disruption of Max/Myc interaction and/or abolished interaction with DNA based on in silico analyses. All but one patient developed bilateral PHEOs during their lifetime. In all cases, 18F-FDOPA PET/CT accurately visualized PHEOs that were often multiple within the same gland or bilaterally and detected more adrenal and extra-adrenal lesions than did CT (per-lesion sensitivity, 90.9% vs 52.4% for CT/magnetic resonance imaging). The two PHEOs missed on 18F-FDOPA PET/CT were <1 cm, corresponding to nodular adrenomedullary hyperplasia. 68Ga-DOTA,Tyr3-octreotate PET/CT detected fewer lesions than did 18F-FDOPA PET/CT in one of three patients, and 18F-fluorodeoxyglucose PET/CT was only faintly positive in two of four patients with underestimation of extra-adrenal lesions in one patient. Conclusions MAX-related PHEOs exhibit a marked 18F-FDOPA uptake, a finding that illustrates the common well-differentiated chromaffin pattern of PHEOs associated with activation of kinase signaling pathways. 18F-FDOPA PET/CT should be considered as the first-line functional imaging modality for diagnostic or follow-up evaluations for these patients.


Oncology Letters | 2017

Paraganglioma of the organ of Zuckerkandl associated with a somatic HIF2α mutation: A case report

Ahmad Esmaeel Abdullah; Carole Guerin; Alessio Imperiale; Anne Barlier; Stéphanie Battini; Morgane Pertuit; Philippe Roche; Wassim Essamet; Bernard Vaisse; Karel Pacak; F. Sebag; David Taïeb

Paragangliomas of the organ of Zuckerkandl (OZ-PGL) are rare tumors that, in >70% of cases, occur in association with succinate dehydrogenase complex iron sulfur subunit B (SDHB) or SDHD gene mutations. The aim of the current study was to determine whether a somatic genetic defect in the hypoxia-inducible factor 2α (HIF2α) gene was present in a case of sporadic OZ-PGL. A 32-year-old African female presented with uncontrolled hypertension during the first trimester of pregnancy. A diagnostic hysteroscopy was performed 3 months after delivery, precipitating a hypertensive crisis. Thereafter, the patient was diagnosed with noradrenaline-secreting OZ-PGL. A complete blood count identified mild normocytic anemia of an inflammatory origin. Surgical removal of the tumor resulted in normalization of plasma and urinary normetanephrine levels. Genetic testing for germline mutations (including large deletions) in the von Hippel-Lindau tumor suppressor, SDHB, SDHC and SDHD genes was normal. However, a heterozygous missense mutation (c.1589Cys>Tyr) was detected in exon 12 of HIF2α, which results in a substitution of alanine 530 with valine (Ala530Val) in the HIF2α protein. A germline mutation was excluded based on the negative results of blood DNA testing. A three-dimensional homology model of Ala530Val was constructed, which showed impaired HIF2α/VHL interaction and decreased HIF2α ubiquitination. 1H-high-resolution magic-angle-spinning nuclear magnetic resonance spectroscopy detected low succinate levels and high α and β glucose levels. To the best of our knowledge, the present case represents the first of its kind to associate a somatic HIF2α gain-of-function mutation with OZ-PGL. It is therefore recommended that patients without germline SDHx mutations should be tested for HIF2α mutations.


Endocrine-related Cancer | 2017

Looking beyond the thyroid: advances in the understanding of pheochromocytoma and hyperparathyroidism phenotypes in MEN2 and of non-MEN2 familial forms

Carole Guerin; Pauline Romanet; David Taïeb; Thierry Brue; André Lacroix; Frederic Sebag; Anne Barlier; F. Castinetti

Over the last years, the knowledge of MEN2 and non-MEN2 familial forms of pheochromocytoma (PHEO) has increased. In MEN2, PHEO is the second most frequent disease: the penetrance and age at diagnosis depend on the mutation of RET Given the prevalence of bilateral PHEO (50% by age 50), adrenal sparing surgery, aimed at sparing a part of the adrenal cortex to avoid adrenal insufficiency, should be systematically considered in patients with bilateral PHEO. Non-MEN2 familial forms of PHEO now include more than 20 genes: however, only small phenotypic series have been reported, suggesting that phenotypic features of isolated hereditary PHEO must be better explored, and follow-up series are needed to better understand the outcome of patients carrying mutations of these genes. The first part of this review will mainly focus on these points. In the second part, a focus will be given on MEN2 and non-MEN2 familial forms of hyperparathyroidism (HPTH). Again, the management of MEN2 HPTH should be aimed at curing the disease while preserving an optimal quality of life by a tailored parathyroidectomy. The phenotypes and outcome of MEN1-, MEN4- and HRPT2-related HPTH are briefly described, with a focus on the most recent literature data and is compared with familial hypocalciuric hypercalcemia.


Surgical Oncology-oxford | 2018

Characterization of adrenocortical tumors by 18 F-FDG PET/CT: Does steroid hormone hypersecretion status modify the uptake pattern?

Nunzia Cinzia Paladino; Carole Guerin; Aoife J. Lowery; Andrea Attard; Wassim Essamet; Eveline Slotema; Isabelle Morange; Frederic Castinetti; Thierry Brue; Anderson Loundou; David Taïeb; Frederic Sebag

BACKGROUND adrenal tumor-to-liver uptake value (Tmx:Lmx) on 18F-FDG PET/CT is an accurate and reproducible PET parameter in the distinction between benign and malignant adrenal masses. The potential impact of steroid hormone secretion on 18F-FDG uptake is still debatable. The aim of this study was to evaluate this relationship. METHODS 2010-2015: 73 patients who underwent adrenalectomy for adrenocortical tumors [49 secreting/(SA) and 24 non-secreting/(NSA)] were retrospectively included in the study. Fourteen were malignant. All patients underwent hormonal evaluation, functional and anatomical imaging, Weiss scoring and Ki 67 evaluation. RESULTS malignant tumors exhibit higher SUVmax than benign tumors (median 7.75 vs 3.06 respectively, p < 0.001) and Tmx:Lmx was 2.7 vs 1.17 for benign tumors, p < 0.001. Tmx:Lmx was positively correlated to Weiss score (p < 0.001). No significant difference was observed for Tmx:Lmx between SA and NSA overall (p = 0.851), regardless of the subgroup of tumors analyzed. Tmx:Lmx was not correlated to tumor size (p < 0.508) or 24 h free urinary cortisol level (p < 0.522). CONCLUSIONS no correlation was observed between Tmx:Lmx and hormonal status, however the correlation between ratio, malignancy and Weiss score confirm the utility of 18F-FDG PET/CT for the differentiation of benign from malignant adrenal lesions, irrespective of the hormone secretory status of the tumor. 18F-FDG PET/CT is a useful biomarker in the diagnosis of adrenal tumors, regardless of the secretion status.

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David Taïeb

Aix-Marseille University

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F. Sebag

Aix-Marseille University

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Frederic Sebag

University of California

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Karel Pacak

National Institutes of Health

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Anne Barlier

Aix-Marseille University

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