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1. Adjuvant mitotane versus surveillance in low-grade, localised adrenocortical carcinoma (ADIUVO): an international, multicentre, open-label, randomised, phase 3 trial and observational study

Author

Terzolo, Massimo, Fassnacht, Martin, Perotti, Paola, Libé, Rossella, Kastelan, Darko, Lacroix, André, Arlt, Wiebke, Haak, Harm Reinout, Loli, Paola, Decoudier, Bénédicte, Lasolle, Helene, Quinkler, Marcus, Haissaguerre, Magalie, Chabre, Olivier, Caron, Philippe, Stigliano, Antonio, Giordano, Roberta, Zatelli, Maria Chiara, Bancos, Irina, Fragoso, Maria Candida Barisson Villares, Canu, Letizia, Luconi, Michaela, Puglisi, Soraya, Basile, Vittoria, Reimondo, Giuseppe, Kroiss, Matthias, Megerle, Felix, Hahner, Stefanie, Kimpel, Otilia, Dusek, Tina, et al, Terzolo, Massimo, Fassnacht, Martin, Perotti, Paola, Libé, Rossella, Kastelan, Darko, Lacroix, André, Arlt, Wiebke, Haak, Harm Reinout, Loli, Paola, Decoudier, Bénédicte, Lasolle, Helene, Quinkler, Marcus, Haissaguerre, Magalie, Chabre, Olivier, Caron, Philippe, Stigliano, Antonio, Giordano, Roberta, Zatelli, Maria Chiara, Bancos, Irina, Fragoso, Maria Candida Barisson Villares, Canu, Letizia, Luconi, Michaela, Puglisi, Soraya, Basile, Vittoria, Reimondo, Giuseppe, Kroiss, Matthias, Megerle, Felix, Hahner, Stefanie, Kimpel, Otilia, Dusek, Tina, and et al

Abstract

BACKGROUND Adjuvant treatment with mitotane is commonly used after resection of adrenocortical carcinoma; however, treatment remains controversial, particularly if risk of recurrence is not high. We aimed to assess the efficacy and safety of adjuvant mitotane compared with surveillance alone following complete tumour resection in patients with adrenocortical carcinoma considered to be at low to intermediate risk of recurrence. METHODS ADIUVO was a multicentre, open-label, parallel, randomised, phase 3 trial done in 23 centres across seven countries. Patients aged 18 years or older with adrenocortical carcinoma and low to intermediate risk of recurrence (R0, stage I-III, and Ki67 ≤10%) were randomly assigned to adjuvant oral mitotane two or three times daily (the dose was adjusted by the local investigator with the target of reaching and maintaining plasma mitotane concentrations of 14-20 mg/L) for 2 years or surveillance alone. All consecutive patients at 14 study centres fulfilling the eligibility criteria of the ADIUVO trial who refused randomisation and agreed on data collection via the European Network for the Study of Adrenal Tumors adrenocortical carcinoma registry were included prospectively in the ADIUVO Observational study. The primary endpoint was recurrence-free survival, defined as the time from randomisation to the first radiological evidence of recurrence or death from any cause (whichever occurred first), assessed in all randomly assigned patients by intention to treat. Overall survival, defined as time from the date of randomisation to the date of death from any cause, was a secondary endpoint analysed by intention to treat in all randomly assigned patients. Safety was assessed in all patients who adhered to the assigned regimen, which was defined by taking at least one tablet of mitotane in the mitotane group and no mitotane at all in the surveillance group. The ADIUVO trial is registered with ClinicalTrials.gov, NCT00777244, and is now complete. FI

Published
2023

2. Corticotroph tumor progression after bilateral adrenalectomy: data from ERCUSYN.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Valassi, Elena, Castinetti, Frédéric, Ferriere, Amandine, Tsagarakis, Stylianos, Feelders, Richard A, Netea-Maier, Romana T, Droste, Michael, Strasburger, Christian J, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Webb, Susan M, Demtröder, Frank, Pirags, Valdis, Chabre, Olivier, Franz, Holger, Santos, Alicia, Reincke, Martin, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Valassi, Elena, Castinetti, Frédéric, Ferriere, Amandine, Tsagarakis, Stylianos, Feelders, Richard A, Netea-Maier, Romana T, Droste, Michael, Strasburger, Christian J, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Webb, Susan M, Demtröder, Frank, Pirags, Valdis, Chabre, Olivier, Franz, Holger, Santos, Alicia, and Reincke, Martin

Abstract

Corticotroph tumor progression after bilateral adrenalectomy/Nelson's syndrome (CTP-BADX/NS) is a severe complication of bilateral adrenalectomy (BADX). The aim of our study was to investigate the prevalence, presentation and outcome of CTP-BADX/NS in patients with Cushing's disease (CD) included in the European Registry on Cushing's Syndrome (ERCUSYN). We examined data on 1045 CD patients and identified 85 (8%) who underwent BADX. Of these, 73 (86%) had follow-up data available. The median duration of follow-up since BADX to the last visit/death was 7 years (IQR 2-9 years). Thirty-three patients (45%) experienced CTP-BADX/NS after 3 years (1.5-6) since BADX. Cumulative progression-free survival was 73% at 3 years, 66% at 5 years and 46% at 10 years. CTP-BADX/NS patients more frequently had a visible tumor at diagnosis of CD than patients without CTP-BADX/NS (P < 0.05). Twenty-seven CTP-BADX/NS patients underwent surgery, 48% radiotherapy and 27% received medical therapy. The median time since diagnosis of CTP-BADX/NS to the last follow-up visit was 2 years (IQR, 1-5). Control of tumor progression was not achieved in 16 of 33 (48%) patients, of whom 8 (50%) died after a mean of 4 years. Maximum adenoma size at diagnosis of CD was associated with further tumor growth in CTP-BADX/NS despite treatment (P = 0.033). Diagnosis of CTP-BADX/NS, older age, greater UFC levels at diagnosis of CD and initial treatment predicted mortality. In conclusion, CTP-BADX/NS was reported in 45% of the ERCUSYN patients who underwent BADX, and control of tumor growth was reached in half of them. Future studies are needed to establish effective strategies for prevention and treatment.

Published
2022

3. Pituitary MRI features in acromegaly resulting from ectopic GHRH secretion from a neuroendocrine tumor: analysis of 30 cases

Author

Potorac, Iulia, Bonneville, Jean-François, Daly, Adrian F., de Herder, Wouter, Fainstein-Day, Patricia, Chanson, Philippe, Korbonits, Marta, Cordido, Fernando, Lamback, Elisa Baranski, Abid, Mohamed, Raverot, Véronique, Raverot, Gerald, Anda Apiñániz, Emma, Caron, Philippe, Du Boullay, Helene, Bidlingmaier, Martin, Bolanowski, Marek, Laloi-Michelin, Marie, Borson-Chazot, Francoise, Chabre, Olivier, Christin-Maitre, Sophie, Briet, Claire, Díaz-Soto, Gonzalo, Bonneville, Fabrice, Castinetti, Frederic, Gadelha, Mônica R., Oliveira Santana, Nathalie, Stelmachowska-Banaś, Maria, Gudbjartsson, Tomas, Villar-Taibo, Rocío, Zornitzki, Taiba, Tshibanda, Luaba, Petrossians, Patrick, Beckers, Albert, Potorac, Iulia, Bonneville, Jean-François, Daly, Adrian F., de Herder, Wouter, Fainstein-Day, Patricia, Chanson, Philippe, Korbonits, Marta, Cordido, Fernando, Lamback, Elisa Baranski, Abid, Mohamed, Raverot, Véronique, Raverot, Gerald, Anda Apiñániz, Emma, Caron, Philippe, Du Boullay, Helene, Bidlingmaier, Martin, Bolanowski, Marek, Laloi-Michelin, Marie, Borson-Chazot, Francoise, Chabre, Olivier, Christin-Maitre, Sophie, Briet, Claire, Díaz-Soto, Gonzalo, Bonneville, Fabrice, Castinetti, Frederic, Gadelha, Mônica R., Oliveira Santana, Nathalie, Stelmachowska-Banaś, Maria, Gudbjartsson, Tomas, Villar-Taibo, Rocío, Zornitzki, Taiba, Tshibanda, Luaba, Petrossians, Patrick, and Beckers, Albert

Abstract

[Abstract] Context: Ectopic acromegaly is a consequence of rare neuroendocrine tumors (NETs) that secrete GHRH. This abnormal GHRH secretion drives GH and IGF-1 excess, with a clinical presentation similar to classical pituitary acromegaly. Identifying the underlying cause for the GH hypersecretion in the setting of ectopic GHRH excess is, however, essential for proper management both of acromegaly and the NET. Owing to the rarity of NETs, the imaging characteristics of the pituitary in ectopic acromegaly have not been analyzed in depth in a large series. Objective: Characterize pituitary magnetic resonance imaging (MRI) features at baseline and after NET treatment in patients with ectopic acromegaly. Design: Multicenter, international, retrospective. Setting: Tertiary referral pituitary centers. Patients: Thirty ectopic acromegaly patients having GHRH hypersecretion. Intervention: None. Main outcome measure: MRI characteristics of pituitary gland, particularly T2-weighted signal. Results: In 30 patients with ectopic GHRH-induced acromegaly, we found that most patients had hyperplastic pituitaries. Hyperplasia was usually moderate but was occasionally subtle, with only small volume increases compared with normal ranges for age and sex. T2-weighted signal was hypointense in most patients, especially in those with hyperplastic pituitaries. After treatment of the NET, pituitary size diminished and T2-weighted signal tended to normalize. Conclusions: This comprehensive study of pituitary MRI characteristics in ectopic acromegaly underlines the utility of performing T2-weighted sequences in the MRI evaluation of patients with acromegaly as an additional tool that can help to establish the correct diagnosis.

Published
2022

4. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

5. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, Kornelia, Sanso, Gabriella, Else, Tobias, Dvorakova, Sarka, Qi, Xiao Ping, Elisei, Rossella, Maia, Ana Luisa, Glod, John, Lourenço, Delmar Muniz, Valdes, Nuria, Mathiesen, Jes, Wohllk, Nelson, Bandgar, Tushar R, Drui, Delphine, Korbonits, Marta, Druce, Maralyn R, Brain, Caroline, Kurzawinski, Tom, Patocs, Atila, Bugalho, Maria Joao, Lacroix, Andre, Caron, Philippe, Fainstein-Day, Patricia, Borson Chazot, Francoise, Klein, Marc, Links, Thera P, Letizia, Claudio, Fugazzola, Laura, Chabre, Olivier, Canu, Letizia, Cohen, Regis, Tabarin, Antoine, Spehar Uroic, Anita, Maiter, Dominique, Laboureau, Sandrine, Mian, Caterina, Peczkowska, Mariola, Sebag, Frederic, Brue, Thierry, Mirebeau-Prunier, Delphine, Leclerc, Laurence, Bausch, Birke, Berdelou, Amandine, Sukurai, Akihiro, Vlcek, Petr, Krajewska, Jolanta, Barontini, Marta, Vaz Ferreira Vargas, Carla, Valerio, Laura, Ceolin, Lucieli, Akshintala, Srivandana, Hoff, Ana, Godballe, Christian, Jarzab, Barbara, Jimenez, Camilo, Eng, Charis, Imai, Tsuneo, Schlumberger, Martin, Grubbs, Elizabeth, Dralle, Henning, Neumann, Hartmut P, Baudin, Eric, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Castinetti, Frederic, Waguespack, Steven G, Machens, Andreas, Uchino, Shinya, Hasse-Lazar, Kornelia, Sanso, Gabriella, Else, Tobias, Dvorakova, Sarka, Qi, Xiao Ping, Elisei, Rossella, Maia, Ana Luisa, Glod, John, Lourenço, Delmar Muniz, Valdes, Nuria, Mathiesen, Jes, Wohllk, Nelson, Bandgar, Tushar R, Drui, Delphine, Korbonits, Marta, Druce, Maralyn R, Brain, Caroline, Kurzawinski, Tom, Patocs, Atila, Bugalho, Maria Joao, Lacroix, Andre, Caron, Philippe, Fainstein-Day, Patricia, Borson Chazot, Francoise, Klein, Marc, Links, Thera P, Letizia, Claudio, Fugazzola, Laura, Chabre, Olivier, Canu, Letizia, Cohen, Regis, Tabarin, Antoine, Spehar Uroic, Anita, Maiter, Dominique, Laboureau, Sandrine, Mian, Caterina, Peczkowska, Mariola, Sebag, Frederic, Brue, Thierry, Mirebeau-Prunier, Delphine, Leclerc, Laurence, Bausch, Birke, Berdelou, Amandine, Sukurai, Akihiro, Vlcek, Petr, Krajewska, Jolanta, Barontini, Marta, Vaz Ferreira Vargas, Carla, Valerio, Laura, Ceolin, Lucieli, Akshintala, Srivandana, Hoff, Ana, Godballe, Christian, Jarzab, Barbara, Jimenez, Camilo, Eng, Charis, Imai, Tsuneo, Schlumberger, Martin, Grubbs, Elizabeth, Dralle, Henning, Neumann, Hartmut P, and Baudin, Eric

Abstract

BACKGROUND: Multiple endocrine neoplasia type 2B is a rare syndrome caused mainly by Met918Thr germline RET mutation, and characterised by medullary thyroid carcinoma, phaeochromocytoma, and extra-endocrine features. Data are scarce on the natural history of multiple endocrine neoplasia type 2B. We aimed to advance understanding of the phenotype and natural history of multiple endocrine neoplasia type 2B, to increase awareness and improve detection. METHODS: This study was a retrospective, multicentre, international study in patients carrying the Met918Thr RET variant with no age restrictions. The study was done with registry data from 48 centres globally. Data from patients followed-up from 1970 to 2016 were retrieved from May 1, 2016, to May 31, 2018. Our primary objectives were to determine overall survival, and medullary thyroid carcinoma-specific survival based on whether the patient had undergone early thyroidectomy before the age of 1 year. We also assessed remission of medullary thyroid carcinoma, incidence and treatment of phaeochromocytoma, and the penetrance of extra-endocrine features. FINDINGS: 345 patients were included, of whom 338 (98%) had a thyroidectomy. 71 patients (21%) of the total cohort died at a median age of 25 years (range <1-59). Thyroidectomy was done before the age of 1 year in 20 patients, which led to long-term remission (ie, undetectable calcitonin level) in 15 (83%) of 18 individuals (2 patients died of causes unrelated to medullary thyroid carcinoma). Medullary thyroid carcinoma-specific survival curves did not show any significant difference between patients who had thyroidectomy before or after 1 year (comparison of survival curves by log-rank test: p=0·2; hazard ratio 0·35; 95% CI 0.07-1.74). However, there was a significant difference in remission status between patients who underwent thyroidectomy before and after the age of 1 year (p<0·0001). There was a significant difference in remission status between patients who underwen

Published
2019

6. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

7. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

8. Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma

Author

Pathologie patiënten zorg, Pathologie Pathologen staf, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, Bertherat, Jérôme, Pathologie patiënten zorg, Pathologie Pathologen staf, Assié, Guillaume, Jouinot, Anne, Fassnacht, Martin, Libé, Rossella, Garinet, Simon, Jacob, Louis, Hamzaoui, Nadim, Neou, Mario, Sakat, Julien, De La Villeón, Bruno, Perlemoine, Karine, Ragazzon, Bruno, Sibony, Mathilde, Tissier, Frédérique, Gaujoux, Sébastien, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina L., Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Luconi, Michaela, Mannelli, Massimo, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Coste, Joel, Beuschlein, Felix, and Bertherat, Jérôme

Published
2019

9. Preoperative medical treatment in Cushing's syndrome: frequency of use and its impact on postoperative assessment: data from ERCUSYN.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Valassi, Elena, Franz, Holger, Brue, Thierry, Feelders, Richard A, Netea-Maier, Romana, Tsagarakis, Stylianos, Webb, Susan M, Yaneva, Maria, Reincke, Martin, Droste, Michael, Komerdus, Irina, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Pfeifer, Marija, Strasburger, Christian J, Tóth, Miklós, Chabre, Olivier, Krsek, Michal, Fajardo, Carmen, Bolanowski, Marek, Santos, Alicia, Trainer, Peter J, Wass, John A H, Tabarin, Antoine, ERCUSYN Study Group, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Valassi, Elena, Franz, Holger, Brue, Thierry, Feelders, Richard A, Netea-Maier, Romana, Tsagarakis, Stylianos, Webb, Susan M, Yaneva, Maria, Reincke, Martin, Droste, Michael, Komerdus, Irina, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Pfeifer, Marija, Strasburger, Christian J, Tóth, Miklós, Chabre, Olivier, Krsek, Michal, Fajardo, Carmen, Bolanowski, Marek, Santos, Alicia, Trainer, Peter J, Wass, John A H, Tabarin, Antoine, and ERCUSYN Study Group

Abstract

BACKGROUND: Surgery is the definitive treatment of Cushing's syndrome (CS) but medications may also be used as a first-line therapy. Whether preoperative medical treatment (PMT) affects postoperative outcome remains controversial. OBJECTIVE: (1) Evaluate how frequently PMT is given to CS patients across Europe; (2) examine differences in preoperative characteristics of patients who receive PMT and those who undergo primary surgery and (3) determine if PMT influences postoperative outcome in pituitary-dependent CS (PIT-CS). PATIENTS AND METHODS: 1143 CS patients entered into the ERCUSYN database from 57 centers in 26 countries. Sixty-nine percent had PIT-CS, 25% adrenal-dependent CS (ADR-CS), 5% CS from an ectopic source (ECT-CS) and 1% were classified as having CS from other causes (OTH-CS). RESULTS: Twenty per cent of patients took PMT. ECT-CS and PIT-CS were more likely to receive PMT compared to ADR-CS (P < 0.001). Most commonly used drugs were ketoconazole (62%), metyrapone (16%) and a combination of both (12%). Median (interquartile range) duration of PMT was 109 (98) days. PIT-CS patients treated with PMT had more severe clinical features at diagnosis and poorer quality of life compared to those undergoing primary surgery (SX) (P < 0.05). Within 7 days of surgery, PIT-CS patients treated with PMT were more likely to have normal cortisol (P < 0.01) and a lower remission rate (P < 0.01). Within 6 months of surgery, no differences in morbidity or remission rates were observed between SX and PMT groups. CONCLUSIONS: PMT may confound the interpretation of immediate postoperative outcome. Follow-up is recommended to definitely evaluate surgical results.

Published
2018

10. SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service de biochimie médicale, Reznik, Yves, Barat, Pascal, Bertherat, Jérôme, Bouvattier, Claire, Castinetti, Frédéric, Chabre, Olivier, Chanson, Philippe, Cortet, Christine, Delemer, Brigitte, Goichot, Bernard, Gruson, Damien, Guignat, Laurence, Proust-Lemoine, Emmanuelle, Sanson, Marie-Laure Raffin, Reynaud, Rachel, Boustani, Dinane Samara, Simon, Dominique, Tabarin, Antoine, Zenaty, Delphine, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service de biochimie médicale, Reznik, Yves, Barat, Pascal, Bertherat, Jérôme, Bouvattier, Claire, Castinetti, Frédéric, Chabre, Olivier, Chanson, Philippe, Cortet, Christine, Delemer, Brigitte, Goichot, Bernard, Gruson, Damien, Guignat, Laurence, Proust-Lemoine, Emmanuelle, Sanson, Marie-Laure Raffin, Reynaud, Rachel, Boustani, Dinane Samara, Simon, Dominique, Tabarin, Antoine, and Zenaty, Delphine

Abstract

The French endocrinology society (SFE) and the French pediatric endocrinology society (DFSDP) have drawn up recommendations for the management of primary and secondary adrenal insufficiency in the adult and child, based on an analysis of the literature by 19 experts in 6 work-groups. A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms except hyperpigmentation which is observed in primary adrenal insufficiency. Diagnosis rely on plasma cortisol and ACTH measurement at 8am and/or the cortisol increase after synacthen administration. When there is a persistant doubt of secondary adrenal insufficiency, insulin hypoglycemia test should be carried out in adults, adolescents and children older than 2 years. For determining the cause of primary adrenal insufficiency, measurement of anti-21-hydroxylase antibodies is the initial testing. An adrenal CT scan should be performed if auto-antibody tests are negative, then assay for very long chain fatty acids is recommended in young males. In children, a genetic anomaly is generally found, most often congenital adrenal hyperplasia. In the case of isolated corticotropin (ACTH) insufficiency, it is recommended to first eliminate corticosteroid-induced adrenal insufficiency, then perform an hypothalamic-pituitary MRI. Acute adrenal insufficiency is a serious condition, a gastrointestinal infection being the most frequently reported initiating factor. After blood sampling for cortisol and ACTH assay, treatment should be commenced by parenteral hydrocortisone hemisuccinate together with the correction of hypoglycemia and hypovolemia. Prevention of acute adrenal crisis requires an education of the patient and/or parent in the case of pediatric patients and the development of educational programs. Treatment of adrenal insufficiency is based on the use of hydrocortisone given at the lowest possible dose, administered several times per day. Mineralocorticoid replacement is often nec

Published
2018

11. DNA methylation is an independent prognostic marker of survival in adrenocortical cancer

Author

Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, Bertherat, Jerome, Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, and Bertherat, Jerome

Published
2017

12. Cabergoline for Cushing's disease: a large retrospective multicenter study.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Ferriere, Amandine, Cortet, Chrisitine, Chanson, Philippe, Delemer, Brigitte, Caron, Philippe, Chabre, Olivier, Reznik, Yves, Bertherat, Jérôme, Rohmer, Vincent, Briet, Claire, Raingeard, Isabelle, Castinetti, Frédéric, Beckers, Albert, Vroonen, Laurent, Maiter, Dominique, Cephise-Velayoudom, Fritz Line, Nunes, Marie Laure, Haissaguerre, Magalie, Tabarin, Antoine, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Ferriere, Amandine, Cortet, Chrisitine, Chanson, Philippe, Delemer, Brigitte, Caron, Philippe, Chabre, Olivier, Reznik, Yves, Bertherat, Jérôme, Rohmer, Vincent, Briet, Claire, Raingeard, Isabelle, Castinetti, Frédéric, Beckers, Albert, Vroonen, Laurent, Maiter, Dominique, Cephise-Velayoudom, Fritz Line, Nunes, Marie Laure, Haissaguerre, Magalie, and Tabarin, Antoine

Abstract

OBJECTIVE: The efficacy of cabergoline in Cushing's disease (CD) is controversial. The aim of this study was to assess the efficacy and tolerability of cabergoline in a large contemporary cohort of patients with CD. DESIGN: We conducted a retrospective multicenter study from thirteen French and Belgian university hospitals. METHODS: Sixty-two patients with CD received cabergoline monotherapy or add-on therapy. Symptom score, biological markers of hypercortisolism and adverse effects were recorded. RESULTS: Twenty-one (40%) of 53 patients who received cabergoline monotherapy had normal urinary free cortisol (UFC) values within 12 months (complete responders), and five of these patients developed corticotropic insufficiency. The fall in UFC was associated with significant reductions in midnight cortisol and plasma ACTH, and with clinical improvement. Compared to other patients, complete responders had similar median baseline UFC (2.0 vs 2.5xULN) and plasma prolactin concentrations but received lower doses of cabergoline (1.5 vs 3.5 mg/week, P < 0.05). During long-term treatment (>12 months), cabergoline was withdrawn in 28% of complete responders because of treatment escape or intolerance. Overall, sustained control of hypercortisolism was obtained in 23% of patients for 32.5 months (19-105). Nine patients on steroidogenesis inhibitors received cabergoline add-on therapy for 19 months (1-240). Hypercortisolism was controlled in 56% of these patients during the first year of treatment with cabergoline at 1.0 mg/week (0.5-3.5). CONCLUSIONS: About 20-25% of CD patients are good responders to cabergoline therapy allowing long-term control of hypercortisolism at relatively low dosages and with acceptable tolerability. No single parameter, including the baseline UFC and prolactin levels, predicted the response to cabergoline.

Published
2017

13. Diagnostic tests for Cushing's syndrome differ from published guidelines: data from ERCUSYN.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Valassi, Elena, Franz, Holger, Brue, Thierry, Feelders, Richard A, Netea-Maier, Romana, Tsagarakis, Stylianos, Webb, Susan M, Yaneva, Maria, Reincke, Martin, Droste, Michael, Komerdus, Irina, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Pfeifer, Marija, Strasburger, Christian J, Tóth, Miklós, Chabre, Olivier, Tabarin, Antoine, Krsek, Michal, Fajardo, Carmen, Bolanowski, Marek, Santos, Alicia, Wass, John A H, Trainer, Peter J, ERCUSYN Study Group, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Valassi, Elena, Franz, Holger, Brue, Thierry, Feelders, Richard A, Netea-Maier, Romana, Tsagarakis, Stylianos, Webb, Susan M, Yaneva, Maria, Reincke, Martin, Droste, Michael, Komerdus, Irina, Maiter, Dominique, Kastelan, Darko, Chanson, Philippe, Pfeifer, Marija, Strasburger, Christian J, Tóth, Miklós, Chabre, Olivier, Tabarin, Antoine, Krsek, Michal, Fajardo, Carmen, Bolanowski, Marek, Santos, Alicia, Wass, John A H, Trainer, Peter J, and ERCUSYN Study Group

Abstract

OBJECTIVE: To evaluate which tests are performed to diagnose hypercortisolism in patients included in the European Registry on Cushing's syndrome (ERCUSYN), and to examine if their use differs from the current guidelines. PATIENTS AND METHODS: We analyzed data on the diagnostic tests performed in 1341 patients with Cushing's syndrome (CS) who have been entered into the ERCUSYN database between January 1, 2000 and January 31, 2016 from 57 centers in 26 European countries. Sixty-seven percent had pituitary-dependent CS (PIT-CS), 24% had adrenal-dependent CS (ADR-CS), 6% had CS from an ectopic source (ECT-CS) and 3% were classified as having CS from other causes (OTH-CS). RESULTS: Of the first-line tests, urinary free cortisol (UFC) test was performed in 78% of patients, overnight 1 mg dexamethasone suppression test (DST) in 60% and late-night salivary cortisol (LSaC) in 25%. Use of LSaC increased in the last five years as compared with previous years (P < 0.01). Use of HDDST was slightly more frequent in the last 5 years as compared with previous years (P < 0.05). Of the additional tests, late-night serum cortisol (LSeC) was measured in 62% and 48-h 2 mg/day low-dose dexamethasone suppression test (LDDST) in 33% of cases. ACTH was performed in 78% of patients. LSeC and overnight 1 mg DST supported the diagnosis of both PIT-CS and ADR-CS more frequently than UFC (P < 0.05). CONCLUSIONS: Use of diagnostic tests for CS varies across Europe and partly differs from the currently available guidelines. It would seem pertinent that a European consensus be established to determine the best diagnostic approach to CS, taking into account specific inter-country differences with regard to the availability of diagnostic tools.

Published
2017

14. Group 2: Adrenal insufficiency: screening methods and confirmation of diagnosis.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service de biochimie médicale, Chanson, Philippe, Guignat, Laurence, Goichot, Bernard, Chabre, Olivier, Boustani, Dinane Samara, Reynaud, Rachel, Simon, Dominique, Tabarin, Antoine, Gruson, Damien, Reznik, Yves, Raffin Sanson, Marie-Laure, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service de biochimie médicale, Chanson, Philippe, Guignat, Laurence, Goichot, Bernard, Chabre, Olivier, Boustani, Dinane Samara, Reynaud, Rachel, Simon, Dominique, Tabarin, Antoine, Gruson, Damien, Reznik, Yves, and Raffin Sanson, Marie-Laure

Abstract

A diagnosis of adrenal insufficiency should be suspected in the presence of a number of non-specific symptoms (fatigue, anorexia, weight loss, hypotension, hyponatremia and hyperkalemia amongst adrenal causes of insufficiency). The diagnosis should be considered in case of pituitary disease or a state of shock. Treatment should be commenced immediately without waiting for confirmation from biochemical tests, which rely on cortisol level at 8am (expected to be low) and on ACTH level (expected to be high in the case of primary adrenal insufficiency). If these tests are inconclusive, a Synacthen test should be carried out. The threshold limits are provided as a guide. Low plasma cortisol and normal to low plasma ACTH indicates a pituitary origin for the deficiency. In this situation, the Synacthen test can give a false normal result, and if this adrenal insufficiency is strongly suspected, an insulin hypoglycemia test or metyrapone (Metopirone) test should be carried out. In children younger than 2yr, hypoglycemia, dehydration and convulsions are frequently observed and in young girls, virilization is suspect of congenital adrenal hyperplasia . The circadian rhythm of cortisol is not present until after 4months of age and the Synacthen test is the only one that is feasible. In children older than 2yrs, the signs and diagnostic methods are the same as in the adult. Cessation of corticosteroid treatment is a frequent circumstance however there is little published data and no evidence for definitive guidelines. After ceasing a short period of corticosteroid treatment, patient education is all that is required. After longer treatment, consensus leaves the choice up to the physician, between educating the patient and prescribing hydrocortisone in case of stress, or prescribing low daily dose hydrocortisone and evaluating the ACTH axis over time until normal function is recovered., [Groupe 2 : insuffisance surrénale : méthodes de dépistage et confirmation du diagnostic] Le diagnostic d’insuffisance surrénale doit être évoqué devant des symptômes non spécifiques (fatigue, anorexie, amaigrissement, hypotension, hyponatrémie, hyperkaliémie dans les causes surrénaliennes…). Il faut la rechercher devant une maladie hypophysaire. Il faut y penser aussi devant un état de choc. Le traitement doit être débuté sans attendre la confirmation biologique qui repose sur le dosage du cortisol à 8 heures (que l’on attend abaissé) et de l’ACTH (que l’on attend élevée dans les causes surrénaliennes). Ces dosages sont complétés dans les situations limites par un test au Synacthène. Des seuils sont donnés à titre indicatif. Devant un cortisol abaissé, l’ACTH normale ou basse indique l’origine hypophysaire du déficit. Dans cette situation, le test au Synacthène peut être faussement normal et si la suspicion est forte, il faut réaliser une hypoglycémie insulinique ou un test à la Metopirone®. Chez le jeune enfant, l’hypoglycémie, la déshydratation, les convulsions sont fréquentes, une virilisation est évocatrice chez la fille d'hyperplasie surrénale congénitale. Le rythme circadien du cortisol ne prend place qu’après l’âge de 4 mois. Le test au Synacthène est donc le seul réalisable à cet âge. Chez l’enfant après 2 ans, les signes d’appel et les méthodes diagnostiques sont les mêmes que chez l’adulte. Le sevrage d’une corticothérapie est une circonstance fréquente pour laquelle les données de la littérature manquent. Apres arrêt d’une corticothérapie courte, seule l’éducation du patient est nécessaire. Pour les traitements longs, le consensus laisse le choix au prescripteur entre éducation du patient et prescription d’hydrocortisone en cas de stress ou prescription d’une petite dose d’hydrocortisone quotidienne et évaluation itérative de l’axe corticotrope jusqu’à récupération de l’axe.

Published
2017

15. DNA methylation is an independent prognostic marker of survival in adrenocortical cancer

Author

Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, Bertherat, Jerome, Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, and Bertherat, Jerome

Published
2017

16. DNA methylation is an independent prognostic marker of survival in adrenocortical cancer

Author

Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, Bertherat, Jerome, Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, and Bertherat, Jerome

Published
2017

17. DNA methylation is an independent prognostic marker of survival in adrenocortical cancer

Author

Pathologie patiënten zorg, Trialsecretariaat Medische Oncologie, Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, Bertherat, Jerome, Pathologie patiënten zorg, Trialsecretariaat Medische Oncologie, Jouinot, Anne, Assie, Guillaume, Libe, Rossella, Fassnacht, Martin, Papathomas, Thomas, Barreau, Olivia, De La Villeon, Bruno, Faillot, Simon, Hamzaoui, Nadim, Neou, Mario, Perlemoine, Karine, Rene-Corail, Fernande, Rodriguez, Stephanie, Sibony, Mathilde, Tissier, Frederique, Dousset, Bertrand, Sbiera, Silviu, Ronchi, Cristina, Kroiss, Matthias, Korpershoek, Esther, De Krijger, Ronald, Waldmann, Jens, Bartsch, Detlef K., Quinkler, Marcus, Haissaguerre, Magalie, Tabarin, Antoine, Chabre, Olivier, Sturm, Nathalie, Luconi, Michaela, Mantero, Franco, Mannelli, Massimo, Cohen, Regis, Kerlan, Veronique, Touraine, Philippe, Barrande, Gaelle, Groussin, Lionel, Bertagna, Xavier, Baudin, Eric, Amar, Laurence, Beuschlein, Felix, Clauser, Eric, Coste, Joel, and Bertherat, Jerome

Published
2017

18. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Tichomirowa, Maria A, Barlier, Anne, Daly, Adrian F, Jaffrain-Rea, Marie-Lise, Ronchi, Cristina, Yaneva, Maria, Urban, Jonathan D, Petrossians, Patrick, Elenkova, Atanaska, Tabarin, Antoine, Desailloud, Rachel, Maiter, Dominique, Schürmeyer, Thomas, Cozzi, Renato, Theodoropoulou, Marily, Sievers, Caroline, Bernabeu, Ignacio, Naves, Luciana A, Chabre, Olivier, Montañana, Carmen Fajardo, Hana, Vaclav, Halaby, Georges, Delemer, Brigitte, Aizpún, José Ignacio Labarta, Sonnet, Emmanuel, Longás, Angel Ferrandez, Hagelstein, Marie-Thérèse, Caron, Philippe, Stalla, Günter K, Bours, Vincent, Zacharieva, Sabina, Spada, Anna, Brue, Thierry, Beckers, Albert, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Tichomirowa, Maria A, Barlier, Anne, Daly, Adrian F, Jaffrain-Rea, Marie-Lise, Ronchi, Cristina, Yaneva, Maria, Urban, Jonathan D, Petrossians, Patrick, Elenkova, Atanaska, Tabarin, Antoine, Desailloud, Rachel, Maiter, Dominique, Schürmeyer, Thomas, Cozzi, Renato, Theodoropoulou, Marily, Sievers, Caroline, Bernabeu, Ignacio, Naves, Luciana A, Chabre, Olivier, Montañana, Carmen Fajardo, Hana, Vaclav, Halaby, Georges, Delemer, Brigitte, Aizpún, José Ignacio Labarta, Sonnet, Emmanuel, Longás, Angel Ferrandez, Hagelstein, Marie-Thérèse, Caron, Philippe, Stalla, Günter K, Bours, Vincent, Zacharieva, Sabina, Spada, Anna, Brue, Thierry, and Beckers, Albert

Abstract

BACKGROUND: Aryl hydrocarbon receptor interacting protein (AIP) mutations (AIPmut) cause aggressive pituitary adenomas in young patients, usually in the setting of familial isolated pituitary adenomas. The prevalence of AIPmut among sporadic pituitary adenoma patients appears to be low; studies have not addressed prevalence in the most clinically relevant population. Hence, we undertook an international, multicenter, prospective genetic, and clinical analysis at 21 tertiary referral endocrine departments. METHODS: We included 163 sporadic pituitary macroadenoma patients irrespective of clinical phenotype diagnosed at <30 years of age. RESULTS: Overall, 19/163 (11.7%) patients had germline AIPmut; a further nine patients had sequence changes of uncertain significance or polymorphisms. AIPmut were identified in 8/39 (20.5%) pediatric patients. Ten AIPmut were identified in 11/83 (13.3%) sporadic somatotropinoma patients, in 7/61 (11.5%) prolactinoma patients, and in 1/16 non-functioning pituitary adenoma patients. Large genetic deletions were not seen using multiplex ligation-dependent probe amplification. Familial screening was possible in the relatives of seven patients with AIPmut and carriers were found in six of the seven families. In total, pituitary adenomas were diagnosed in 2/21 AIPmut-screened carriers; both had asymptomatic microadenomas. CONCLUSION: Germline AIPmut occur in 11.7% of patients <30 years with sporadic pituitary macroadenomas and in 20.5% of pediatric patients. AIPmut mutation testing in this population should be considered in order to optimize clinical genetic investigation and management.

Published
2011

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