Genetic Profiling of a Cohort of Italian Patients with ACTH-Secreting Pituitary Tumors and Characterization of a Novel

ACTH-secreting pituitary tumor Cushing’s disease USP48 USP8 mutation

Journal

Cancers
ISSN: 2072-6694
Titre abrégé: Cancers (Basel)
Pays: Switzerland
ID NLM: 101526829

Informations de publication

Date de publication:
10 Aug 2021
Historique:
received: 07 05 2021
revised: 17 06 2021
accepted: 07 08 2021
entrez: 27 8 2021
pubmed: 28 8 2021
medline: 28 8 2021
Statut: epublish

Résumé

Cushing's Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor, resulting in an excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases

Identifiants

pubmed: 34439178
pii: cancers13164022
doi: 10.3390/cancers13164022
pmc: PMC8392476
pii:
doi:

Types de publication

Journal Article

Langues

eng

Subventions

Organisme : Associazione Italiana per la Ricerca sul Cancro
ID : IG 2017-20594
Organisme : Ministero della Salute
ID : PE-2016-02361797
Organisme : Progetti di Ricerca di Interesse Nazionale
ID : 2017N8CK4K

Références

J Endocr Soc. 2018 Feb 19;2(3):266-278
pubmed: 29600293
Cancers (Basel). 2019 Sep 04;11(9):
pubmed: 31487906
Endocrine. 2019 Feb;63(2):240-246
pubmed: 30315484
Exp Cell Res. 2007 Oct 1;313(16):3624-34
pubmed: 17720156
J Endocrinol Invest. 2020 May;43(5):631-639
pubmed: 31773581
Nat Commun. 2018 Aug 9;9(1):3171
pubmed: 30093687
Nat Med. 2008 May;14(5):579-84
pubmed: 18408729
Cancers (Basel). 2019 Nov 08;11(11):
pubmed: 31717455
Pituitary. 1998 Apr;1(1):33-43
pubmed: 11081181
Neuroendocrinology. 2020;110(1-2):119-129
pubmed: 31280266
Front Endocrinol (Lausanne). 2021 Feb 16;11:611752
pubmed: 33664708
Haematologica. 2009 Aug;94(8):1049-59
pubmed: 19644137
Pituitary. 2019 Aug;22(4):435-442
pubmed: 31273566
PLoS One. 2016 Mar 17;11(3):e0151760
pubmed: 26986070
Blood. 1998 Sep 15;92(6):2157-63
pubmed: 9731075
Front Endocrinol (Lausanne). 2020 Dec 08;11:648
pubmed: 33363514
J Clin Endocrinol Metab. 2015 Jul;100(7):E997-1004
pubmed: 25942478
Endocrinology. 2004 Apr;145(4):1718-29
pubmed: 14670995
J Clin Med. 2021 Jan 20;10(3):
pubmed: 33498176
Endocr J. 2007 Dec;54(6):961-8
pubmed: 18079591
Nat Genet. 2015 Jan;47(1):31-8
pubmed: 25485838
Pituitary. 2020 Oct;23(5):595-609
pubmed: 32691356
Endocr J. 2019 Jun 28;66(6):515-522
pubmed: 30880293
J Neuroendocrinol. 2018 Sep;30(9):e12628
pubmed: 29920815
Mol Cell Endocrinol. 2019 Mar 1;483:31-38
pubmed: 30611770
J Clin Endocrinol Metab. 1999 Oct;84(10):3823-30
pubmed: 10523037
Annu Rev Biochem. 2017 Jun 20;86:159-192
pubmed: 28498721
Mol Cell Endocrinol. 2021 Mar 15;524:111159
pubmed: 33428965
J Clin Invest. 2011 Dec;121(12):4712-21
pubmed: 22105169
Cell. 1994 Jul 29;78(2):335-42
pubmed: 7913883
Eur J Endocrinol. 2018 Jan;178(1):57-63
pubmed: 28982703
Cell Res. 2015 Mar;25(3):306-17
pubmed: 25675982
Endocr Connect. 2020 Feb 1;:
pubmed: 32101529
Horm Metab Res. 2020 Feb;52(2):117-123
pubmed: 32053843
Eur J Endocrinol. 2006 Aug;155(2):371-9
pubmed: 16868153
FEBS Lett. 2018 Apr;592(7):1211-1220
pubmed: 29473952
Biochem Soc Trans. 2019 Dec 20;47(6):1867-1879
pubmed: 31845722
J Clin Endocrinol Metab. 2017 Aug 1;102(8):2836-2843
pubmed: 28505279
Eur J Endocrinol. 2016 Feb;174(2):213-26
pubmed: 26578638
Front Endocrinol (Lausanne). 2021 Jan 18;11:601984
pubmed: 33537004
J Clin Endocrinol Metab. 2019 Jul 1;104(7):2535-2546
pubmed: 30844069
Eur J Endocrinol. 2019 Dec;181(6):615-627
pubmed: 31581124
Neuro Oncol. 2019 Oct 9;21(10):1273-1283
pubmed: 31222332
Eur J Endocrinol. 1999 Mar;140(3):250-5
pubmed: 10216521
Mol Biol Cell. 2005 Nov;16(11):5163-74
pubmed: 16120644
Front Endocrinol (Lausanne). 2017 Mar 22;8:55
pubmed: 28382019

Auteurs

Donatella Treppiedi (D)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Anna Maria Barbieri (AM)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Genesio Di Muro (G)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Giusy Marra (G)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Federica Mangili (F)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Rosa Catalano (R)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Emanuela Esposito (E)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Emanuele Ferrante (E)

Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Andreea Liliana Serban (AL)

Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Marco Locatelli (M)

Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Neurosurgery Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Andrea Gerardo Lania (AG)

Endocrinology, Diabetology and Medical Andrology Unit, Humanitas Clinical and Research Center, IRCCS, 20089 Rozzano, Italy.
Department of Biomedical Sciences, Humanitas University, 20089 Rozzano, Italy.

Anna Spada (A)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Maura Arosio (M)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Erika Peverelli (E)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.

Giovanna Mantovani (G)

Department of Clinical Sciences and Community Health, University of Milan, 20122 Milan, Italy.
Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.

Classifications MeSH