The Genomic Landscape of Corticotroph Tumors: From Silent Adenomas to ACTH-Secreting Carcinomas.
ACTH-secreting carcinoma
Cushing disease
copy number variation
corticotroph
exome
single nucleotide variation
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Apr 2022
27 Apr 2022
Historique:
received:
24
02
2022
revised:
18
04
2022
accepted:
23
04
2022
entrez:
14
5
2022
pubmed:
15
5
2022
medline:
18
5
2022
Statut:
epublish
Résumé
Corticotroph cells give rise to aggressive and rare pituitary neoplasms comprising ACTH-producing adenomas resulting in Cushing disease (CD), clinically silent ACTH adenomas (SCA), Crooke cell adenomas (CCA) and ACTH-producing carcinomas (CA). The molecular pathogenesis of these tumors is still poorly understood. To better understand the genomic landscape of all the lesions of the corticotroph lineage, we sequenced the whole exome of three SCA, one CCA, four ACTH-secreting PA causing CD, one corticotrophinoma occurring in a CD patient who developed Nelson syndrome after adrenalectomy and one patient with an ACTH-producing CA. The ACTH-producing CA was the lesion with the highest number of single nucleotide variants (SNV) in genes such as
Identifiants
pubmed: 35563252
pii: ijms23094861
doi: 10.3390/ijms23094861
pmc: PMC9106092
pii:
doi:
Substances chimiques
Melanocortins
0
Multienzyme Complexes
0
Nucleotides
0
Adrenocorticotropic Hormone
9002-60-2
ErbB Receptors
EC 2.7.10.1
Aurora Kinase A
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Consejo Nacional de Ciencia y Tecnología
ID : 289499
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