USP8 and TP53 Drivers are Associated with CNV in a Corticotroph Adenoma Cohort Enriched for Aggressive Tumors.

The Journal of Clinical Endocrinology and Metabolism
Andrew V UzilovEliza B Geer

Abstract

Pituitary corticotroph adenomas are rare tumors that can be associated with excess adrenocorticotropin (ACTH) and adrenal cortisol production, resulting in the clinically debilitating endocrine condition Cushing disease. A subset of corticotroph tumors behave aggressively, and genomic drivers behind the development of these tumors are largely unknown. To investigate genomic drivers of corticotroph tumors at risk for aggressive behavior. Whole-exome sequencing of patient-matched corticotroph tumor and normal deoxyribonucleic acid (DNA) from a patient cohort enriched for tumors at risk for aggressive behavior. Tertiary care center. Twenty-seven corticotroph tumors from 22 patients were analyzed. Twelve tumors were macroadenomas, of which 6 were silent ACTH tumors, 2 were Crooke's cell tumors, and 1 was a corticotroph carcinoma. Whole-exome sequencing. Somatic mutation genomic biomarkers. We found recurrent somatic mutations in USP8 and TP53 genes, both with higher allelic fractions than other somatic mutations. These mutations were mutually exclusive, with TP53 mutations occurring only in USP8 wildtype (WT) tumors, indicating they may be independent driver genes. USP8-WT tumors were characterized by extensive somatic copy number ...Continue Reading

References

Feb 19, 2004·Journal of the National Cancer Institute·Asad UmarSudhir Srivastava
Dec 2, 2004·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Greisa VilaMarcelo Paez-Pereda
Feb 9, 2007·European Journal of Endocrinology·Wolfgang SaegerStephan Petersenn
Nov 21, 2007·Endocrine Pathology·Yoshinori TanizakiRicard V Lloyd
Sep 6, 2008·Clinical Endocrinology·Sachiko-Tsukamoto KawashimaAkira Shimatsu
May 21, 2010·Neurological Research·Paulo Henrique Pires de AguiarLaurence Katznelson
Jan 12, 2011·Nature Biotechnology·James T RobinsonJill P Mesirov
Mar 8, 2011·Cell·Douglas Hanahan, Robert A Weinberg
Jul 15, 2011·The American Journal of Surgical Pathology·Helen MadsenBette Kay Kleinschmidt-DeMasters
Apr 21, 2012·Briefings in Bioinformatics·Helga ThorvaldsdóttirJill P Mesirov
Mar 22, 2014·Cancer Cell·Patricia A J Muller, Karen H Vousden
Mar 25, 2014·Current Opinion in Genetics & Development·Ludmil B Alexandrov, Michael R Stratton
Apr 18, 2014·Nature Reviews. Cancer·Kathryn T BiegingLaura D Attardi
May 27, 2014·Biochimica Et Biophysica Acta·Daniel DiolaitiRobert N Eisenman
Jul 2, 2014·Nature Reviews. Genetics·Thomas HelledaySerena Nik-Zainal
Dec 9, 2014·Nature Genetics·Martin ReinckeMasayuki Komada
Feb 14, 2015·Cell Research·Zeng-Yi MaYao Zhao
May 6, 2015·The Journal of Clinical Endocrinology and Metabolism·Luis G Perez-RivasMartin Reincke
May 26, 2015·Lancet·André LacroixLynnette K Nieman
Jul 1, 2015·Nature Reviews. Molecular Cell Biology·Flore KruiswijkKaren H Vousden
Jul 26, 2015·Journal of Endocrinological Investigation·L G Perez-Rivas, M Reincke
Nov 19, 2015·European Journal of Endocrinology·Kyohei HayashiShozo Yamada
Mar 5, 2016·Human Mutation·Johan T den DunnenPeter E M Taschner
Jun 12, 2016·Bioinformatics·Zachary L SkidmoreMalachi Griffith
Jun 25, 2016·Database : the Journal of Biological Databases and Curation·Bronwen L AkenStephen M J Searle
Nov 5, 2016·Cell Research·Zhi-Jian SongYao Zhao
Oct 7, 2016·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Wenya Linda BiIan F Dunn
May 16, 2017·The Journal of Clinical Endocrinology and Metabolism·Fabio R FauczConstantine A Stratakis
May 20, 2017·European Journal of Endocrinology·Florian W KieferAlois Gessl
Oct 7, 2017·European Journal of Endocrinology·Luis G Pérez-RivasMartin Reincke
Oct 14, 2017·Bioinformatics·Xiaoqing HuangTeresa M Przytycka
Dec 22, 2017·Journal of the Endocrine Society·Laura C Hernández-RamírezConstantine A Stratakis
Feb 24, 2018·The Journal of Clinical Endocrinology and Metabolism·Mirella HagePeter Kamenický
Mar 31, 2018·Journal of the Endocrine Society·Cora BallmannUte I Scholl
Apr 7, 2018·Cancer Cell·Alison M TaylorMatthew Meyerson
Apr 27, 2018·Genome Medicine·Francis BlokzijlEdwin Cuppen
Jun 30, 2018·Clinical Endocrinology·Adriana AlbaniMarily Theodoropoulou

❮ Previous
Next ❯

Citations

Jul 6, 2021·Frontiers in Endocrinology·Masaaki YamamotoHidenori Fukuoka

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.