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15 results on '"Assié, Guillaume"'

1. DNA hypermethylation driven by DNMT1 and DNMT3A favors tumor immune escape contributing to the aggressiveness of adrenocortical carcinoma

Author

Kerdivel, Gwenneg, Amrouche, Floriane, Calmejane, Marie-Ange, Carallis, Floriane, Hamroune, Juliette, Hantel, Constanze, Bertherat, Jérôme, Assié, Guillaume, Boeva, Valentina, Kerdivel, Gwenneg, Amrouche, Floriane, Calmejane, Marie-Ange, Carallis, Floriane, Hamroune, Juliette, Hantel, Constanze, Bertherat, Jérôme, Assié, Guillaume, and Boeva, Valentina

Abstract

BACKGROUND Adrenocortical carcinoma is rare and aggressive endocrine cancer of the adrenal gland. Within adrenocortical carcinoma, a recently described subtype characterized by a CpG island methylator phenotype (CIMP) has been associated with an especially poor prognosis. However, the drivers of CIMP remain unknown. Furthermore, the functional relation between CIMP and poor clinical outcomes of patients with adrenocortical carcinoma stays elusive. RESULTS Here, we show that CIMP in adrenocortical carcinoma is linked to the increased expression of DNA methyltransferases DNMT1 and DNMT3A driven by a gain of gene copy number and cell hyperproliferation. Importantly, we demonstrate that CIMP contributes to tumor aggressiveness by favoring tumor immune escape. This effect could be at least partially reversed by treatment with the demethylating agent 5-azacytidine. CONCLUSIONS In sum, our findings suggest that co-treatment with demethylating agents might enhance the efficacy of immunotherapy and could represent a novel therapeutic approach for patients with high CIMP adrenocortical carcinoma.

Published
2023

2. Identification of glucocorticoid-related molecular signature by whole blood methylome analysis

Author

Armignacco, Roberta, Jouinot, Anne, Bouys, Lucas, Septier, Amandine, Lartigue, Thomas, Neou, Mario, Gaspar, Cassandra, Perlemoine, Karine, Braun, Leah, Riester, Anna, Bonnet-Serrano, Fidéline, Blanchard, Anne, Amar, Laurence, Scaroni, Carla, Ceccato, Filippo, Rossi, Gian Paolo; https://orcid.org/0000-0002-7963-0931, Williams, Tracy Ann, Larsen, Casper K, Allassonnière, Stéphanie, Zennaro, Maria-Christina, Beuschlein, Felix; https://orcid.org/0000-0001-7826-3984, Reincke, Martin, Bertherat, Jérôme, Assié, Guillaume, Armignacco, Roberta, Jouinot, Anne, Bouys, Lucas, Septier, Amandine, Lartigue, Thomas, Neou, Mario, Gaspar, Cassandra, Perlemoine, Karine, Braun, Leah, Riester, Anna, Bonnet-Serrano, Fidéline, Blanchard, Anne, Amar, Laurence, Scaroni, Carla, Ceccato, Filippo, Rossi, Gian Paolo; https://orcid.org/0000-0002-7963-0931, Williams, Tracy Ann, Larsen, Casper K, Allassonnière, Stéphanie, Zennaro, Maria-Christina, Beuschlein, Felix; https://orcid.org/0000-0001-7826-3984, Reincke, Martin, Bertherat, Jérôme, and Assié, Guillaume

Abstract

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, hormone assays contribute to identify Cushing's syndrome or adrenal insufficiency. However, no biomarker directly quantifies the biological glucocorticoid action. The aim of this study was to identify such markers. Design We evaluated whole blood DNA methylome in 94 samples obtained from patients with different glucocorticoid states (Cushing's syndrome, eucortisolism, adrenal insufficiency). We used an independent cohort of 91 samples for validation. Methods Leukocyte DNA was obtained from whole blood samples. Methylome was determined using the Illumina methylation chip array (~850 000 CpG sites). Both unsupervised (principal component analysis) and supervised (Limma) methods were used to explore methylome profiles. A Lasso-penalized regression was used to select optimal discriminating features. Results Whole blood methylation profile was able to discriminate samples by their glucocorticoid status: glucocorticoid excess was associated with DNA hypomethylation, recovering within months after Cushing's syndrome correction. In Cushing's syndrome, an enrichment in hypomethylated CpG sites was observed in the region of FKBP5 gene locus. A methylation predictor of glucocorticoid excess was built on a training cohort and validated on two independent cohorts. Potential CpG sites associated with the risk for specific complications, such as glucocorticoid-related hypertension or osteoporosis, were identified, needing now to be confirmed on independent cohorts. Conclusions Whole blood DNA methylome is dynamically impacted by glucocorticoids. This biomarker could contribute to better assessment of glucocorticoid action beyond hormone

Published
2022

3. Targeted metabolomics as a tool in discriminating endocrine from primary hypertension

Author

Erlic, Zoran; https://orcid.org/0000-0001-6953-9133, Reel, Parminder, Reel, Smarti, Amar, Laurence, Pecori, Alessio, Larsen, Casper K, Tetti, Martina, Pamporaki, Christina, Prehn, Cornelia, Prejbisz, Aleksander; https://orcid.org/0000-0001-7085-0244, Adamski, Jerzy, Ceccato, Filippo, Scaroni, Carla, Kroiss, Matthias, Dennedy, Michael C, Deinum, Jaap, Langton, Katharina, Mulatero, Paolo, Reincke, Martin, Lenzini, Livia, Gimenez-Roqueplo, Anne-Paule, Assié, Guillaume, Blanchard, Anne, Zennaro, Maria-Christina, Jefferson, Emily, Beuschlein, Felix, Erlic, Zoran; https://orcid.org/0000-0001-6953-9133, Reel, Parminder, Reel, Smarti, Amar, Laurence, Pecori, Alessio, Larsen, Casper K, Tetti, Martina, Pamporaki, Christina, Prehn, Cornelia, Prejbisz, Aleksander; https://orcid.org/0000-0001-7085-0244, Adamski, Jerzy, Ceccato, Filippo, Scaroni, Carla, Kroiss, Matthias, Dennedy, Michael C, Deinum, Jaap, Langton, Katharina, Mulatero, Paolo, Reincke, Martin, Lenzini, Livia, Gimenez-Roqueplo, Anne-Paule, Assié, Guillaume, Blanchard, Anne, Zennaro, Maria-Christina, Jefferson, Emily, and Beuschlein, Felix

Abstract

Context Identification of patients with endocrine forms of hypertension (EHT) (primary hyperaldosteronism [PA], pheochromocytoma/paraganglioma [PPGL], and Cushing syndrome [CS]) provides the basis to implement individualized therapeutic strategies. Targeted metabolomics (TM) have revealed promising results in profiling cardiovascular diseases and endocrine conditions associated with hypertension. Objective Use TM to identify distinct metabolic patterns between primary hypertension (PHT) and EHT and test its discriminating ability. Methods Retrospective analyses of PHT and EHT patients from a European multicenter study (ENSAT-HT). TM was performed on stored blood samples using liquid chromatography mass spectrometry. To identify discriminating metabolites a “classical approach” (CA) (performing a series of univariate and multivariate analyses) and a “machine learning approach” (MLA) (using random forest) were used. The study included 282 adult patients (52% female; mean age 49 years) with proven PHT (n = 59) and EHT (n = 223 with 40 CS, 107 PA, and 76 PPGL), respectively. Results From 155 metabolites eligible for statistical analyses, 31 were identified discriminating between PHT and EHT using the CA and 27 using the MLA, of which 16 metabolites (C9, C16, C16:1, C18:1, C18:2, arginine, aspartate, glutamate, ornithine, spermidine, lysoPCaC16:0, lysoPCaC20:4, lysoPCaC24:0, PCaeC42:0, SM C18:1, SM C20:2) were found by both approaches. The receiver operating characteristic curve built on the top 15 metabolites from the CA provided an area under the curve (AUC) of 0.86, which was similar to the performance of the 15 metabolites from MLA (AUC 0.83). Conclusion TM identifies distinct metabolic pattern between PHT and EHT providing promising discriminating performance.

Published
2021

4. ENSAT registry-based randomized clinical trials for adrenocortical carcinoma

Author

Pathologie Pathologen staf, Crona, Joakim, Baudin, Eric, Terzolo, Massimo, Chrisoulidou, Alexandra, Angelousi, Anna, Ronchi, Cristina L., Oliveira, Cristina Lamas, Nieveen van Dijkum, Els J.M., Ceccato, Filippo, Borson-Chazot, Françoise, Reimondo, Giuseppe, Tiberi, Guido A.M., Ettaieb, Hester, Kiriakopoulos, Andreas, Letizia, Canu, Kastelan, Darko, Osher, Esthr, Yiannakopoulou, Eugenia, Arnaldi, Giorgio, Assié, Guillaume, Paiva, Isabel, Bourdeau, Isabelle, Newell-Price, John, Nowak, Karolina M., Tous Romero, M., de Martino, Maria Cristina, Bugalho, Maria João, Sherlock, Mark, Vantyghem, Marie Christine, Dennedy, Michael Conall, Loli, Paula, Rodien, Patrice, Feelders, Richard, de Krijger, Ronald, van Slycke, Sam, Aylwin, Simon, Morelli, Valentina, Vroonen, Laurent, Shafigullina, Zulfiya, Bancos, Irina, Trofimiuk-Müldner, Małgorzata, Quinkler, Marcus, Luconi, Michaela, Kroiss, Matthias, Naruse, Mitsuhide, Igaz, Peter, Mihai, Radu, della Casa, Silvia, Berruti, Alfredo, Fassnacht, Martin, Beuschlein, Felix, Pathologie Pathologen staf, Crona, Joakim, Baudin, Eric, Terzolo, Massimo, Chrisoulidou, Alexandra, Angelousi, Anna, Ronchi, Cristina L., Oliveira, Cristina Lamas, Nieveen van Dijkum, Els J.M., Ceccato, Filippo, Borson-Chazot, Françoise, Reimondo, Giuseppe, Tiberi, Guido A.M., Ettaieb, Hester, Kiriakopoulos, Andreas, Letizia, Canu, Kastelan, Darko, Osher, Esthr, Yiannakopoulou, Eugenia, Arnaldi, Giorgio, Assié, Guillaume, Paiva, Isabel, Bourdeau, Isabelle, Newell-Price, John, Nowak, Karolina M., Tous Romero, M., de Martino, Maria Cristina, Bugalho, Maria João, Sherlock, Mark, Vantyghem, Marie Christine, Dennedy, Michael Conall, Loli, Paula, Rodien, Patrice, Feelders, Richard, de Krijger, Ronald, van Slycke, Sam, Aylwin, Simon, Morelli, Valentina, Vroonen, Laurent, Shafigullina, Zulfiya, Bancos, Irina, Trofimiuk-Müldner, Małgorzata, Quinkler, Marcus, Luconi, Michaela, Kroiss, Matthias, Naruse, Mitsuhide, Igaz, Peter, Mihai, Radu, della Casa, Silvia, Berruti, Alfredo, Fassnacht, Martin, and Beuschlein, Felix

Published
2021

5. Glucocorticoid excess in patients with pheochromocytoma compared to paraganglioma and other forms of hypertension

Author

Constantinescu, Georgiana, Langton, Katharina, Conrad, Catleen, Amar, Laurence, Assié, Guillaume, Gimenez-Roqueplo, Anne-Paule, Blanchard, Anne, Larsen, Casper K, Mulatero, Paolo, Williams, Tracy Ann, Prejbisz, Aleksander, Fassnacht, Martin, Bornstein, Stefan, Ceccato, Filippo, Fliedner, Stephanie, Dennedy, Michael, Peitzsch, Mirko, Sinnott, Richard, Januszewicz, Andrzej, Beuschlein, Felix, Reincke, Martin, Zennaro, Maria-Christina, Eisenhofer, Graeme, Deinum, Jaap, Constantinescu, Georgiana, Langton, Katharina, Conrad, Catleen, Amar, Laurence, Assié, Guillaume, Gimenez-Roqueplo, Anne-Paule, Blanchard, Anne, Larsen, Casper K, Mulatero, Paolo, Williams, Tracy Ann, Prejbisz, Aleksander, Fassnacht, Martin, Bornstein, Stefan, Ceccato, Filippo, Fliedner, Stephanie, Dennedy, Michael, Peitzsch, Mirko, Sinnott, Richard, Januszewicz, Andrzej, Beuschlein, Felix, Reincke, Martin, Zennaro, Maria-Christina, Eisenhofer, Graeme, and Deinum, Jaap

Abstract

Context: Catecholamines and adrenocortical steroids are important regulators of blood pressure. Bidirectional relationships between adrenal steroids and catecholamines have been established but whether this is relevant to patients with pheochromocytoma is unclear. Objective: This study addresses the hypothesis that patients with pheochromocytoma and paraganglioma (PPGL) have altered steroid production compared to primary hypertensives. Design: Multicenter cross-sectional study. Setting: Twelve European referral centers. Patients: Subjects included 182 patients with pheochromocytoma, 36 with paraganglioma and 270 primary hypertensives. Patients with primary aldosteronism (n=461) and Cushing syndrome (n=124) were included for additional comparisons. Intervention: In patients with PPGLs, surgical resection of tumors. Outcome measures: Differences in mass spectrometry-based profiles of 15 adrenal steroids between groups and after surgical resection of PPGLs. Relationships of steroids to plasma and urinary metanephrines and urinary catecholamines. Results: Patients with pheochromocytoma had higher (P<0.05) circulating concentrations of cortisol, 11-deoxycortisol, 11-deoxycorticosterone and corticosterone than primary hypertensives. Concentrations of cortisol, 11-deoxycortisol and corticosterone were also higher (P<0.05) in patients with pheochromocytoma than with paraganglioma. These steroids correlated positively with plasma and urinary metanephrines and catecholamines in patients with pheochromocytoma, but not paraganglioma. After adrenalectomy, there were significant decreases in cortisol, 11-deoxycortisol, corticosterone, 11-deoxycorticosterone, aldosterone and 18-oxocortisol. Conclusions: This is the first large study in patients with PPGLs that supports in a clinical setting the concept of adrenal cortical-medullary interactions involving an influence of catecholamines on adrenal steroids. These findings could have implications for the cardiovascular complications

Published
2020

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

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

9. 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

10. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.

Author

Hernández-Ramírez, Laura C, Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, Stratakis, Constantine A, Hernández-Ramírez, Laura C, Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, and Stratakis, Constantine A

Abstract

The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations. CNVs were assessed in 116 pediatric CD patients (87 germline DNA only/29 germline and tumor DNA). Four potentially pathogenic missense variants in CABLES1 were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. The four variants affected residues within or close to the predicted cyclin-dependent kinase-3 (CDK3)-binding region of the CABLES1 protein and impaired its ability to block cell growth in a mouse corticotropinoma cell line (AtT20/D16v-F2). The four patients had macroadenomas. We provide evidence for a role of CABLES1 as a novel pituitary tumor-predisposing gene. Its function might link two of the main molecular mechanisms altered in corticotropinomas: the cyclin-dependent kinase/cyclin group of cell cycle regulators and the epidermal growth factor receptor signaling pathway. Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene.

Published
2017

11. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, Lalli, Enzo, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

12. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, Lalli, Enzo, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

13. Loss-of-function mutations in the CABLES1 gene are a novel cause of Cushing's disease.

Author

Hernández-Ramírez, Laura C, Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, Stratakis, Constantine A, Hernández-Ramírez, Laura C, Hernández-Ramírez, Laura C, Gam, Ryhem, Valdés, Nuria, Lodish, Maya B, Pankratz, Nathan, Balsalobre, Aurelio, Gauthier, Yves, Faucz, Fabio R, Trivellin, Giampaolo, Chittiboina, Prashant, Lane, John, Kay, Denise M, Dimopoulos, Aggeliki, Gaillard, Stephan, Neou, Mario, Bertherat, Jérôme, Assié, Guillaume, Villa, Chiara, Mills, James L, Drouin, Jacques, and Stratakis, Constantine A

Abstract

The CABLES1 cell cycle regulator participates in the adrenal-pituitary negative feedback, and its expression is reduced in corticotropinomas, pituitary tumors with a largely unexplained genetic basis. We investigated the presence of CABLES1 mutations/copy number variations (CNVs) and their associated clinical, histopathological and molecular features in patients with Cushing's disease (CD). Samples from 146 pediatric (118 germline DNA only/28 germline and tumor DNA) and 35 adult (tumor DNA) CD patients were screened for CABLES1 mutations. CNVs were assessed in 116 pediatric CD patients (87 germline DNA only/29 germline and tumor DNA). Four potentially pathogenic missense variants in CABLES1 were identified, two in young adults (c.532G > A, p.E178K and c.718C > T, p.L240F) and two in children (c.935G > A, p.G312D and c.1388A > G, and p.D463G) with CD; no CNVs were found. The four variants affected residues within or close to the predicted cyclin-dependent kinase-3 (CDK3)-binding region of the CABLES1 protein and impaired its ability to block cell growth in a mouse corticotropinoma cell line (AtT20/D16v-F2). The four patients had macroadenomas. We provide evidence for a role of CABLES1 as a novel pituitary tumor-predisposing gene. Its function might link two of the main molecular mechanisms altered in corticotropinomas: the cyclin-dependent kinase/cyclin group of cell cycle regulators and the epidermal growth factor receptor signaling pathway. Further studies are needed to assess the prevalence of CABLES1 mutations among patients with other types of pituitary adenomas and to elucidate the pituitary-specific functions of this gene.

Published
2017

14. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, Lalli, Enzo, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

15. Assessment of VAV2 Expression Refines Prognostic Prediction in Adrenocortical Carcinoma

Author

Pathologie Pathologen staf, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, Lalli, Enzo, Pathologie Pathologen staf, Sbiera, Silviu, Sbiera, Iuliu, Ruggiero, Carmen, Doghman-Bouguerra, Mabrouka, Korpershoek, Esther, de Krijger, Ronald R., Ettaieb, Hester, Haak, Harm R., Volante, Marco, Papotti, Mauro, Reimondo, Giuseppe, Terzolo, Massimo, Luconi, Michaela, Nesi, Gabriella, Mannelli, Massimo, Libé, Rossella, Ragazzon, Bruno, Assié, Guillaume, Bertherat, Jérôme, Altieri, Barbara, Fadda, Guido, Rogowski-Lehmann, Natalie, Reincke, Martin, Beuschlein, Felix, Fassnacht, Martin, and Lalli, Enzo

Published
2017

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