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

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

Article  CAS  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  CAS  PubMed  Google Scholar 

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

Article  CAS  PubMed  Google Scholar 

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

Chasseloup F, Bourdeau I, Tabarin A, Regazzo D, Dumontet C, Ladurelle N, Tosca L, Amazit L, Proust A, Scharfmann R, Mignot T, Fiore F, Tsagarakis S, Vassiliadi D, Maiter D, Young J, Lecoq AL, Deméocq V, Salenave S, Lefebvre H, Cloix L, Emy P, Dessailloud R, Vezzosi D, Scaroni C, Barbot M, De Herder W, Pattou F, Tétreault M, Corbeil G, Dupeux M, Lambert B, Tachdjian G, Guiochon-Mantel A, Beau I, Chanson P, Viengchareun S, Lacroix A, Bouligand J, Kamenický P (2021). Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome: a multicentre, retrospective, cohort study. Lancet Diabetes Endocrinol, 9:813–824. https://doi.org/10.1016/S2213-8587(21)00236-9

Article  CAS  PubMed  Google Scholar 

Mete O, Erickson LA, Juhlin CC, de Krijger RR, Sasano H, Volante M, Papotti MG (2022). Overview of the 2022 WHO Classification of Adrenal Cortical Tumors. Endocr Pathol 33:155–196. https://doi.org/10.1007/s12022-022-09710-8

Article  CAS  PubMed  PubMed Central  Google Scholar 

Violon F, Bouys L, Berthon A, Ragazzon B, Barat M, Perlemoine K, Guignat L, Terris B, Bertherat J, Sibony M (2023). Impact of Morphology in the Genotype and Phenotype Correlation of Bilateral Macronodular Adrenocortical Disease (BMAD): A Series of Clinicopathologically Well-Characterized 35 Cases. Endocr Pathol 34:179–199. https://doi.org/10.1007/s12022-023-09751-7

Article  CAS  PubMed  Google Scholar 

De Arruda Botelho MLA, Nishi MY, Ribeiro KB, Zerbini MCN (2023). Morphological Harbingers of ARMC5-Pathogenic Variant-Related Bilateral Macronodular Adrenocortical Disease. Endocr Pathol 34:200–212. https://doi.org/10.1007/s12022-023-09761-5

Article  CAS  Google Scholar 

Correa R, Zilbermint M, Berthon A, Espiard S, Batsis M, Z Papadakis GZ, Xekouki P, Lodish MB, Bertherat J, Faucz FR, Stratakis CA (2015). The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia. Eur J Endocrinol 173:435–440. https://doi.org/10.1530/EJE-15-0205

Fragoso MCBV, Domenice S, Latronico AC, Martin RM, Pereira MAA, Zerbini MCN, Lucon AM, Mendonca BB (2003). Cushing’s Syndrome Secondary to Adrenocorticotropin-Independent Macronodular Adrenocortical Hyperplasia due to Activating Mutations of GNAS1 Gene. J Clin Endocrinol Metab 88:2147–2151. https:// doi.org/https://doi.org/10.1210/jc.2002-021362

Article  CAS  PubMed  Google Scholar 

Rege J, Hoxie J, Liu C-J, Liu CJ, Cash MN, Luther JM, Gellert L, Turcu AF, Else T, J Giordano TJ, Udager AM, Rainey WE, Nanba K (2022). Targeted Mutational Analysis of Cortisol-Producing Adenomas. J Clin Endocrinol Metab, 107:e594–e603. https://doi.org/10.1210/clinem/dgab682

Horvath A, Mericq V, Stratakis CA (2008). Mutation in PDE8B, a Cyclic AMP–Specific Phosphodiesterase in Adrenal Hyperplasia. N Engl J Med 358:750–752. https://doi.org/10.1056/NEJMc0706182

Article  CAS  PubMed  Google Scholar 

Boikos S, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney J, Stratakis C (2008). Phosphodiesterase 11A Expression in the Adrenal Cortex, Primary Pigmented Nodular Adrenocortical Disease, and other Corticotropin-independent Lesions. Horm Metab Res 40:347–353. https://doi.org/10.1055/s-2008-1076694

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bouys L, Violon F, Louiset E, Sibony M, Lefebvre H, Bertherat J (2024). Bilateral Adrenocortical Nodular Disease and Cushing’s Syndrome. J Clin Endocrinol Metab. https://doi.org/10.1210/clinem/dgae419

Wong SQ, Li J, Tan AY-C, Vedururu R, Pang JMB, Do H, Ellul J, Doig K, Bell A, MacArthur GA, Fox SB, Thomas DM, Fellowes A, Parisot JP, Dobrovic A; CANCER 2015 Cohort (2014). Sequence artefacts in a prospective series of formalin-fixed tumours tested for mutations in hotspot regions by massively parallel sequencing. BMC Med Genomics 13:7:23. https://doi.org/10.1186/1755-8794-7-23

Fragoso MCBV, Wanichi IQ, Cavalcante IP, Mariani BMDP (2016). The Role of gsp Mutations on the Development of Adrenocortical Tumors and Adrenal Hyperplasia. Front Endocrinol 27:7:104. https://doi.org/10.3389/fendo.2016.00104

Article  Google Scholar 

Fukumoto T, Umakoshi H, Iwahashi N, et al (2024). Steroids-producing nodules: a two-layered adrenocortical nodular structure as a precursor lesion of cortisol-producing adenoma. eBioMedicine 103:105087. https://doi.org/10.1016/j.ebiom.2024.105087

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nanba K, Omata K, Else T, Beck PCC, Nanba AT, Turcu AF, Miller BS, Giordano TJ, Tomlins SA, Rainey WE (2018). Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans. J Clin Endocrinol Metab 103:3869–3876 https://doi.org/10.1210/jc.2018-01004

Article  PubMed  PubMed Central  Google Scholar 

Cappello F, Angerilli V, Munari G, Ceccon C, Sabbadin M, Pagni F, Fusco N, Malapelle U, Fassan M (2022). FFPE-Based NGS Approaches into Clinical Practice: The Limits of Glory from a Pathologist Viewpoint. J Pers Med 12:750. https://doi.org/10.3390/jpm12050750

Article  PubMed  PubMed Central  Google Scholar 

McDonough SJ, Bhagwate A, Sun Z, Wang C, Zschunke M, Gorman JA, Kopp KJ, Cunningham JM (2019). Use of FFPE-derived DNA in next generation sequencing: DNA extraction methods. PLoS ONE 14:e0211400. https://doi.org/10.1371/journal.pone.0211400

Article  CAS  PubMed  PubMed Central  Google Scholar 

Groelz D, Viertler C, Pabst D, Dettmann N, Zatloukal K (2018). Impact of storage conditions on the quality of nucleic acids in paraffin embedded tissues. PLoS ONE 13:e0203608. https://doi.org/10.1371/journal.pone.0203608

Article  CAS  PubMed  PubMed Central  Google Scholar 

Jin P, Janjua MU, Zhang Q, Dong C, Yang Y, Mo Z (2018). Extensive ARMC5 genetic variance in primary bilateral macronodular adrenal hyperplasia that started with exophthalmos: a case report. J Med Case Reports 12:13. https://doi.org/10.1186/s13256-017-1529-3

Article  Google Scholar 

Lao L, Bourdeau I, Gagliardi L, He X, Shi W, Hao B, Tan M, Hu Y, Peng J, Coulombe B, Torpy DJ, Scott HS, Lacroix A, Juo H, Wu J (2022). ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia. Nucleic Acids Res 50:6343–6367. https://doi.org/10.1093/nar/gkac483

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cavalcante IP, Rizk-Rabin M, Ribes C, Perlemoine K, Hantel C, Berthon A, Bertherat J, Ragazzon B (2022). Tumor suppressor gene ARMC5 controls adrenal redox state through NRF1 turnover. Endocr Relat Cancer 30;29(11):615–624. https://doi.org/10.1530/ERC-22-0099

Morelli V, Elli FM, Frigerio S, Vena W, Palmieri S, Lucca C, Maffini MA, Contarino A, Bagnaresi F, Mantovani G, Arosio M (2023). Prevalence and clinical features of armadillo repeat-containing 5 mutations carriers in a single center cohort of patients with bilateral adrenal incidentalomas. Eur J Endocrinol 189:242–251. https://doi.org/10.1093/ejendo/lvad088

Article  PubMed  Google Scholar 

Lacroix A, Bolté E, Tremblay J, Dupré J, Poitras P, Fournier H, Garon J, Garrel D, Bayard F, Taillefer R, Flanagan RJ, Hamet P (1992). Gastric Inhibitory Polypeptide–Dependent Cortisol Hypersecretion — A New Cause of Cushing’s Syndrome. N Engl J Med 327:974–980. https://doi.org/10.1056/NEJM199210013271402

Article  CAS  PubMed  Google Scholar 

Chasseloup F, Regazzo D, Tosca L, Proust A, Kuhn E, Hage M, Jublanc C, Mokhtari K, Dalle Nogare M, Avallone S, Ceccato F, Tachdjian G, Salenave S, Young J, Gaillard S, Parker F, Boch AL, Chanson P, Boulignand J, Occhi G, Kamenický P (2024). KDM1A genotyping and expression in 146 sporadic somatotroph pituitary adenomas. European Journal of Endocrinology 190:173–181.https://doi.org/10.1056/10.1093/ejendo/lvae013

Article  PubMed  Google Scholar 

Elbelt U, Trovato A, Kloth M, Gentz E, Finke R, Spranger J, Galas D, Weber S, Wolf C, Köning K, Arlt W, Büttner R, May P, Allolio B, Schneider JG (2015). Molecular and Clinical Evidence for an ARMC5 Tumor Syndrome: Concurrent Inactivating Germline and Somatic Mutations Are Associated With Both Primary Macronodular Adrenal Hyperplasia and Meningioma. J Clin Endocrinol Metab 100(1):E119-28. https://doi.org/10.1210/jc.2014-2648

Article  CAS  PubMed  Google Scholar 

Ferreira MJ, Pedro J, Salazar D, Costa C, Aragão Rodrigues J, Costa MM, Grangeia A, Castedo JL, Carvalho D (2020). ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report. Case Rep Endocrinol 2:2020:8848151. https://doi.org/10.1155/2020/8848151

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