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Isadora Pontes Cavalcante, Anna Vaczlavik, Ludivine Drougat, Claudimara Ferini Pacicco Lotfi, Karine Perlemoine, Christopher Ribes, Marthe Rizk-Rabin, Eric Clauser, Maria Candida Barisson Villares Fragoso, Jérôme Bertherat, and Bruno Ragazzon

Introduction Germline mutations of Armadillo repeat containing 5 gene ( ARMC5 ) were identified in patients diagnosed with multiple bilateral adrenocortical tumors (PBMAH or primary bilateral macronodular adrenal hyperplasia) ( Assie et al

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Andrea Gutierrez Maria, Christina Tatsi, Annabel Berthon, Ludivine Drougat, Nikolaos Settas, Fady Hannah-Shmouni, Jerome Bertherat, Fabio R Faucz, and Constantine A Stratakis

. 2008 , Vezzosi et al. 2012 ). Mutations of the armadillo repeat-containing 5 ( ARMC5 ) gene are the main causative genetic defect of PBMAH ( Assié et al. 2013 , Faucz et al. 2014 ), although others exist too, from GNAS1 to MEN1 and GIPR

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Fady Hannah-Shmouni, Annabel Berthon, Fabio R Faucz, Juan Medina Briceno, Andrea Gutierrez Maria, Andrew Demidowich, Mirko Peitzsch, Jimmy Masjkur, Fidéline Bonnet-Serrano, Anna Vaczlavik, Jérôme Bertherat, Martin Reincke, Graeme Eisenhofer, and Constantine A Stratakis

development of PBMAH, which is consistent with the Knudson two-hit model of tumorigenesis. Individuals with pathogenic variants in ARMC5 manifest with more severe hypercortisolism and larger adrenal glands when compared to predicted benign variants ( Faucz

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Fidéline Bonnet-Serrano and Jérôme Bertherat

one gene affected in more than one tumor sample, ARMC5 , mapping to 16p11.2. Direct sequencing of tumor DNA further identified ARMC5 mutations in a total of 18/33 patients. All tumor DNA samples of these 18 patients harbored 2 genetic alterations in

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Dimitra A Vassiliadi and Stylianos Tsagarakis

the majority of PBMAH cases have a sporadic presentation, it has recently been shown that a fair number of patients carry germline mutations of the ARMC5 gene ( Assie et al. 2013 ). Interestingly, tumorigenesis follows the ‘two-hit’ model since

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Simon Faillot, Thomas Foulonneau, Mario Néou, Stéphanie Espiard, Simon Garinet, Anna Vaczlavik, Anne Jouinot, Windy Rondof, Amandine Septier, Ludivine Drougat, Karine Hécale-Perlemoine, Bruno Ragazzon, Marthe Rizk-Rabin, Mathilde Sibony, Fidéline Bonnet-Serrano, Jean Guibourdenche, Rosella Libé, Lionel Groussin, Bertrand Dousset, Aurélien de Reyniès, Jérôme Bertherat, and Guillaume Assié

). Finally, ARMC5 mutations were recently identified in PMAH (review in Faillot & Assie 2016 ). Beyond mutations, few studies reported other genomic features of these tumors. Chromosome alterations in adrenal adenomas have reported common gains in 9q

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Ravi Kumar Dutta, Peter Söderkvist, and Oliver Gimm

different genes are linked to these diseases. Next-generation sequencing of APA samples has uncovered mutations in several novel genes: KCNJ5 , ATP1A1 , ATP2B3 , CTNNB1 , CACNA1D , CACNA1H and ARMC5 ( Choi et al . 2011 , Mulatero et al . 2012

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Catherine Goudie, Fady Hannah-Shmouni, Mahmure Kavak, Constantine A Stratakis, and William D Foulkes

other factors ( Bourdeau et al . 2001 , Lacroix et al . 2010 ). Pathogenic variants in the tumour suppressor ARMC5 were identified >50% of apparent sporadic and familial PBMAH cases, where both alleles carried one germline and one somatic mutation

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Carole Guerin, David Taieb, Giorgio Treglia, Thierry Brue, André Lacroix, Frederic Sebag, and Frederic Castinetti

unilateral adrenal lesion (adenoma or carcinoma) or bilateral hyperplasias: primary bilateral macronodular adrenal hyperplasia (BMAH), a condition in which adrenal production of ACTH and ARMC5 mutations have been recently evidenced ( Assie et al . 2013

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Marcela Rassi-Cruz, Andrea G Maria, Fabio R Faucz, Edra London, Leticia A P Vilela, Lucas S Santana, Anna Flavia F Benedetti, Tatiana S Goldbaum, Fabio Y Tanno, Vitor Srougi, Jose L Chambo, Maria Adelaide A Pereira, Aline C B S Cavalcante, Francisco C Carnevale, Bruna Pilan, Luiz A Bortolotto, Luciano F Drager, Antonio M Lerario, Ana Claudia Latronico, Maria Candida B V Fragoso, Berenice B Mendonca, Maria Claudia N Zerbini, Constantine A Stratakis, and Madson Q Almeida

of 48 years ( Daniil et al. 2016 ). Interestingly, ARMC5 variants, predicted to be damaged in silico , were identified in African Americans with sporadic PA ( Zilbermint et al. 2015 ). This link between ARMC5 and PA increased the spectrum of