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1. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study

Author

Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Published
2021
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3. ODP051 Presymptomatic Genetic Screening Leading to the Diagnosis of Paraganglioma Associated with Duodenal and Pancreatic Neuroendocrine Tumours in a Carrier of a Pathogenic MAX Variant

Author

Salle, Stefanie Parisien-La, primary, Mercier, Frédéric, additional, Corbeil, Gilles, additional, Dumas, Nadine, additional, Vandenbroucke-Menu, Franck, additional, Widmer, Hugues, additional, Nguyen, Bich Ngoc, additional, Latour, Mathieu, additional, and Bourdeau, Isabelle, additional

Published
2022
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4. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

Amazit, Larbi, primary, Barbot, Mattia, additional, Beau, Isabelle, additional, Bouligand, Jérôme, additional, Bourdeau, Isabelle, additional, Chanson, Philippe, additional, Cloix, Lucie, additional, Corbeil, Gilles, additional, de Herder, Wouter, additional, Deméocq, Vianney, additional, Desailloud, Rachel, additional, Dumontet, Charles, additional, Dupeux, Margot, additional, Emy, Philippe, additional, Fiore, Frederic, additional, Guiochon-Mantel, Anne, additional, Kamenicky, Peter, additional, Lacroix, André, additional, Ladurelle, Nataly, additional, Lambert, Benoit, additional, Lecoq, Anne-Lise, additional, Lefebvre, Hervé, additional, Maiter, Dominique, additional, Pattou, Francois, additional, Proust, Alexis, additional, Regazzo, Daniela, additional, Salenave, Sylvie, additional, Scaroni, Carla, additional, Scharfmann, Raphael, additional, Tabarin, Antoine, additional, Tachdjian, Gerard, additional, Tetreault, Martine, additional, Tosca, Lucie, additional, Tsagarakis, Stylianos, additional, Vassiliadi, Dimitra, additional, Vezzosi, Delphine, additional, Viengchareun, Say, additional, Young, Jacques, additional, and Chasseloup, Fanny, additional

Published
2022
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5. Supplemental Materials: Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma

Author

Parisien-La Salle, Stéfanie, Corbeil, Gilles, El Haffaf, Zaki, Duranceau, Caroline, Latour, Mathieu, Karakiewicz, Pierre I, Lacroix, André, and Bourdeau, Isabelle

Subjects
MEN1, oncocytic adrenocortical carcinoma, primary aldosteronism, genetics
Abstract

Supplemental Data for JCEM article:Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma Table:Primers used for MEN1, KCNJ5, CTNNB1, GNAS, ATP1A1, ATP2B3 and CACNA1D Sanger sequencing&nbsp

Published
2022
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7. Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing's syndrome

Author

Chasseloup, Fanny, primary, Bourdeau, Isabelle, additional, Tabarin, Antoine, additional, Regazzo, Daniela, additional, Dumontet, Charles, additional, Ladurelle, Nataly, additional, Tosca, Lucie, additional, Amazit, Larbi, additional, Proust, Alexis, additional, Scharfmann, Raphael, additional, Fiore, Frederic, additional, Tsagarakis, Stylianos, additional, Vassiliadi, Dimitra, additional, Maiter, Dominique, additional, Young, Jacques, additional, Lecoq, Anne-Lise, additional, Demeocq, Vianney, additional, Salenave, Sylvie, additional, Lefebvre, Herve, additional, Cloix, Lucie, additional, Emy, Philippe, additional, Desailloud, Rachel, additional, Vezzosi, Delphine, additional, Scaroni, Carla, additional, Barbot, Mattia, additional, de, Herder Wouter, additional, Pattou, Francois, additional, Tetreault, Martine, additional, Corbeil, Gilles, additional, Dupeux, Margot, additional, Lambert, Benoit, additional, Tachdjian, Gerard, additional, Guiochon-Mantel, Anne, additional, Beau, Isabelle, additional, Chanson, Philippe, additional, Viengchareun, Say, additional, Lacroix, Andre, additional, Bouligand, Jerome, additional, and Kamenicky, Peter, additional

Published
2022
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8. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, Annual Meeting of the Endocrine Society 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, and Annual Meeting of the Endocrine Society 2022

Abstract

CONTEXT : Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome is caused by ectopic expression of GIP receptor (GIPR) in the adrenal lesions. Such ectopic expression of GIPR was also reported in other endocrine neoplasm, notably in somatotroph pituitary adenomas from acromegalic patients with paradoxical increase of GH after oral glucose load, suggesting a common molecular pathogenesis. We aimed to identify the driver event responsible for GIP-dependent PBMAH with Cushing's syndrome and ectopic GIPR expression in somatotropinomas. [...]

Published
2022

9. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, Annual Meeting of the Endocrine Society 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, and UCL - (SLuc) Service d'endocrinologie et de nutrition

Subjects
Diabetes and Metabolism, Endocrinology, Endocrinology, Diabetes and Metabolism
Abstract

Context Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome is caused by ectopic expression of GIP receptor (GIPR) in the adrenal lesions. Such ectopic expression of GIPR was also reported in other endocrine neoplasm, notably in somatotroph pituitary adenomas from acromegalic patients with paradoxical increase of GH after oral glucose load, suggesting a common molecular pathogenesis. We aimed to identify the driver event responsible for GIP-dependent PBMAH with Cushing's syndrome and ectopic GIPR expression in somatotropinomas. Methods We conducted an international, multicenter, cohort study. We collected blood and adrenal samples from patients who had undergone unilateral or bilateral adrenalectomy for GIP-dependent PBMAH with Cushing's syndrome. Adrenal samples from patients with PBMAH and Cushing's syndrome without food-dependent cortisol production were used as controls. We further collected somatotropinoma specimens from acromegaly patients followed at two expert endocrine centers in France. Results 17 patients with familial or sporadic GIP-dependent PBMAH with Cushing's syndrome were studied. We identified germline heterozygous mutations in the lysine demethylase 1A (KDM1A) gene in all 17 patients. We further identified a recurrent deletion of the short arm of chromosome 1 harboring the KDM1A locus in the adrenal lesions of affected patients. None of the 25 patients in the control group had KDM1A germline or somatic alterations. Concomitant genetic inactivation of both KDM1A alleles resulted in loss of KDM1A expression in the adrenal lesions. RNA-sequencing revealed the global impact of KDM1A loss in adrenal tissue on gene transcription and identified differentially regulated genes including those encoding for GIPR and other G-Protein-Coupled Receptors that may be involved in adrenal tumorigenesis and regulation of steroidogenesis. In vitro pharmacologic inhibition, silencing and knock-out by CRISPR-Cas9 genome editing of KDM1A led to an increase in GIPR transcripts and protein in human adrenocortical H295R cells. Somatotropinoma samples from 78 patients with acromegaly were studied. 24% of these patients presented with a paradoxical rise of GH after oral glucose load and expressed ectopically GIP-receptor in their somatotropinoma. None of the somatotropinomas harbored KDM1A pathogenic variants, but those from patients with paradoxical GH response displayed a recurrent chromosome 1p loss. Discussion We identified germline inactivating KDM1A mutations and loss of heterozygosity as a genetic predisposition to GIP-dependent PBMAH with Cushing's syndrome following a tumor suppressor gene model of tumorigenesis. We currently perform genetic screening in first-degree relatives of patients with GIP-dependent PBMAH with Cushing's syndrome and clinical examination with biochemical testing in asymptomatic KDM1A variant carriers. We did not identify somatic KDM1A mutations in somatotropinomas expressing GIPR ectopically, however their recurrent 1p chromosome loss suggests that KDM1A haploinsufficiency may contribute to GIPR expression in those tumors. Presentation: Saturday, June 11, 2022 12:15 p.m. - 12:30 p.m.

Published
2022

10. Genetic Dissection of Primary Aldosteronism in a Patient With MEN1 and Ipsilateral Adrenocortical Carcinoma and Adenoma.

Author

Salle, Stéfanie Parisien-La, Corbeil, Gilles, El-Haffaf, Zaki, Duranceau, Caroline, Latour, Mathieu, Karakiewicz, Pierre I., Lacroix, André, and Bourdeau, Isabelle

Subjects
HYPERALDOSTERONISM, ADRENAL tumors
Abstract

Background: Adrenal tumors are found in up to 40% of patients with multiple endocrine neoplasia type 1 (MEN1). However, adrenocortical carcinomas (ACC) and primary aldosteronism (PA) are rare in MEN1. Case: A 48-year-old woman known to have primary hyperparathyroidism and hypertension with hypokalemia was referred for a right complex 8-cm adrenal mass with a 38.1 SUVmax uptake on 18F-FDG PET/CT. PA was confirmed by saline suppression test (aldosterone 1948 pmol/L- 1675 pmol/L; normal range [N]: <165 post saline infusion) and suppressed renin levels (<5 ng/L; N: 5-20). Catecholamines, androgens, 24- hour urinary cortisol, and pituitary panel were normal. A right open adrenalectomy revealed a concomitant 4-cm oncocytic ACC and a 2.3-cm adrenocortical adenoma. Immunohistochemistry showed high expression of aldosterone synthase protein in the adenoma but not in the ACC, supporting excess aldosterone production by the adenoma. Genetic analysis: After genetic counseling, the patient underwent genetic analysis of leucocyte and tumoral DNA. Sequencing of MEN1 revealed a heterozygous germline pathogenic variant in MEN1 (c.1556delC, p.Pro519Leufs*40). The wild-type MEN1 allele was lost in the tumoral DNA of both the resected adenoma and carcinoma. Sequencing analysis of driver genes in PA revealed a somatic pathogenic variant in exon 2 of the KCNJ5 gene (c.451G>A, p.Gly151Arg) only in the aldosteronoma. Conclusion: To our knowledge, we describe the first case of adrenal collision tumors in a patient carrying a germline pathogenic variant of the MEN1 gene associated with MEN1 loss of heterozygosity in both oncocytic ACC and adenoma and a somatic KCNJ5 pathogenic variant leading to aldosterone-producing adenoma. This case gives new insights on adrenal tumorigenesis in MEN1 patients. [ABSTRACT FROM AUTHOR]

Published
2023
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11. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, Kamenický, Peter, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Abstract

BACKGROUND: GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. METHODS: We conducted a multicentre, retrospective, cohort study at endocrine hospitals and university hospitals in France, Canada, Italy, Greece, Belgium, and the Netherlands. We collected blood and adrenal samples from patients who had undergone unilateral or bilateral adrenalectomy for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. Adrenal samples from patients with primary bilateral macronodular adrenal hyperplasia who had undergone an adrenalectomy for overt or mild Cushing's syndrome without evidence of food-dependent cortisol production and those with GIP-dependent unilateral adrenocortical adenomas were used as control groups. We performed whole genome, whole exome, and targeted next generation sequencing, and copy number analyses of blood and adrenal DNA from patients with familial or sporadic disease. We performed RNA sequencing on adrenal samples and functional analyses of the identified genetic defect in the human adrenocortical cell line H295R. FINDINGS: 17 patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome were studied. The median age of patients was 43·3 (95% CI 38·8-47·8) years and most patients (15 [88%]) were women. We identified germline heterozygous pathogenic or most likely pathogenic variants in the KDM1A gene in all 17 patients. We also identified a recurrent deletion in the short p arm of chromosome 1 harboring the KDM1A locus in adrenal lesions of these patients. None of the 29 patients in the control groups had KDM1A germline or somatic alterations.

Published
2021

13. SUN-373 Small Adrenal Incidentaloma Stable in Size Becoming a Stage IV Adrenocortical Carcinoma 10 Years Later in a Young Patient Carrying a Germline APC Variant of Uncertain Significance (VUS)

Author

Boily, Pascale, primary, Gagnon, Nadia, additional, Alguire, Catherine, additional, Corbeil, Gilles, additional, Latour, Mathieu, additional, Bancos, Irina, additional, Beauregard, Catherine, additional, Nolet, Serge, additional, Saad, Fred, additional, Caceres, Katia, additional, El Haffaf, Zaki, additional, Olney, Harold J, additional, and Bourdeau, Isabelle, additional

Published
2019
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14. Loss of KDM1Ain GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study

Author

Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Abstract

GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome.

Published
2021
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17. 70 17q21.31 CNV DOSE DEPENDENT EFFECT ON THE PREVALENCE OF HYPERTENSION AND DYSLIPIDEMIA COMORBIDITY

Author

Ivanga, Mahine, primary, Sandoval, Johanna, additional, Idaghdour, Youssef, additional, Corbeil, Gilles, additional, Awadalla, Philip, additional, Seda, Ondrej, additional, Chalmers, John, additional, Harrap, Stephen, additional, McMahon, Stephen, additional, Marre, Michel, additional, Gaudet, Daniel, additional, Tremblay, Johanne, additional, and Hamet, Pavel, additional

Published
2012
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