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Endocrine Abstracts (2019) 63 P433 | DOI: 10.1530/endoabs.63.P433


1Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy, Villejuif, France; 2Dipartimento di Medicina Clinica e Chirurgia Università Federico, Naples, Italy; 3Department Medical Biology and Pathology, Gustave Roussy, Villejuif, France; 4Translational Research Laboratory and Biobank, Gustave Roussy, Villejuif, France; 5Institut de Pathologie, CHRU, Lille, France; 6Institut Cochin, INSERM U1016, CNRS UMR8104, Université Paris Descartes, & Department of Endocrinology Assistance Publique Hôpitaux de Paris, Hôpital Cochin, Paris, France; 7French Adrenal Cancer Network, Institut National du Cancer, F-75014, Paris, France; 8Centre Léon Bérard, Lyon, France. 9Inserm U693, Faculté de Médecine Paris-Sud, Le Kremlin Bicêtre, France; 10Inserm U1052, Université Lyon 1, Lyon, France; 11Service de Chirurgie Endocrine, Hôpital Claude Huriez, CHRU de Lille, Lille, France.

Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and scant treatment options.

Purpose: To look for new therapeutic approaches issued from the screening for common genetic variants in a large series of advanced ACC.

Experimental design: Whole exome sequencing have been performed in 10 advanced (stage III and IV) ACC samples to identify the recurrent variants. The presence and the frequency of most interesting variants on this series together with the results of the literature were confirmed using target gene sequencing (Ion Torrent) in a validation cohortof 68 advanced ACC samples\.

Results: Among the genes explored the most commonly altered gene was TP53 (35.5%) followed by CTNNB1 (22.1%); APC (19.1%); ZNRF3 (11.8%); RB1 (5.9%) and DAXX (5.9%); MED12 (2.9%); MEN1 (1.5%). Twenty percent of the evaluated samples presented a genetic variants in both Wnt and cell cycle pathways, while 33.8% did not have any genetic variants in the explored genes of these pathways.

Conclusion: Based on DNA alteration analyses performed in the largest series of advanced ACC, Wnt and cell cycle pathway alterations represent critical targets for future therapeutic development.

Volume 63

21st European Congress of Endocrinology

Lyon, France
18 May 2019 - 21 May 2019

European Society of Endocrinology 

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