Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups-Reference-Cited by-同舟云学术

Somatic Molecular Heterogeneity in Bilateral Macronodular Adrenocortical Disease (BMAD) Differs Among the Pathological Subgroups

Published:2024-08-24 Issue:3 Volume:35 Page:194-206
ISSN:1046-3976
Container-title:Endocrine Pathology
language:en
Short-container-title:Endocr Pathol

Author:

Violon Florian^ORCID,Bouys Lucas^ORCID,Vaduva Patricia^ORCID,Chansavang Albain^ORCID,Vaquier Louis^ORCID,Letourneur Franck^ORCID,Izac Brigitte^ORCID,Giannone Gaëtan^ORCID,De Murat Daniel,Gaillard Martin^ORCID,Berthon Annabel^ORCID,Ragazzon Bruno^ORCID,Pasmant Eric^ORCID,Sibony Mathilde^ORCID,Bertherat Jérôme^ORCID

Funder

Association de Recherche contre le Cancer

Cancer research for personalized medicine

Filière maladies rares endocriniennes

Société française d’endocrinologie

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s12022-024-09824-1.pdf

Reference31 articles.

1. Cavalcante IP, Berthon A, Fragoso MC, Reincke M, Stratakis CA, Ragazzon B, Bertherat J (2022). Primary bilateral macronodular adrenal hyperplasia: definitely a genetic disease. Nat Rev Endocrinol 18:699–711. https://doi.org/10.1038/s41574-022-00718-y

2. Bertherat J, Bourdeau I, Bouys L, Chasseloup F, Kamenický P, Lacroix A (2023). Clinical, Pathophysiologic, Genetic, and Therapeutic Progress in Primary Bilateral Macronodular Adrenal Hyperplasia. Endocr Rev, 44:567–628. https://doi.org/10.1210/endrev/bnac034

3. Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J (2021). Update on primary bilateral macronodular adrenal hyperplasia (PBMAH). Endocrine 71:595–603. https://doi.org/10.1007/s12020-021-02645-w

4. Vaczlavik A, Bouys L, Violon F, Giannone G, Jouinot A, Armignacco R, Cavalcante IP, Berthon A, Letouzé E, Vaduva P, Barat M, Bonnet F, Perlemoine K, Ribes C, Sibony M, North MO, Espiard S, Emy P, Haissaguerre M, Tauveron I, Guignat L, Groussin L, Dousset B, Reincke M, Fragoso M, Stratakis CA, Pasmant E, Libé R, Assié G, Ragazzon B, Bertherat J (2022). KDM1A inactivation causes hereditary food-dependent Cushing syndrome. Genet Med 24:374–383. https://doi.org/10.1016/j.gim.2021.09.018

5. Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J (2013). ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing’s Syndrome. N Engl J Med, 28;369(22):2105–14. https://doi.org/10.1056/NEJMoa1304603