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et al. 2022 ). Mutations in the MEN1 , DAXX (death domain associated protein), and ATRX (ATRX chromatin remodeler) genes are commonly found in NETs, especially in PNETs ( Jiao et al. 2011 , Puccini et al. 2020 ). MEN1 (menin 1) codes
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Neuroendocrine Tumour Unit and Department of Oncology, Royal Free Hospital, London, UK
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disease pathogenesis. Approximately 43% of tumours were found to carry mutations in DAXX (25%) or ATRX (17.6%). Within the cohort, 23.5% of tumours were found to harbour MEN1 mutations in the presence of either DAXX or ATRX , while 20.6% tumours
Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
ICBAS – Instituto de Ciências Biomédicas Abel Salazar da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
Department of Pathology, Centro Hospitalar e Universitário de São João, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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Ipatimup – Instituto de Patologia e Imunologia Molecular da Universidade do Porto, Porto, Portugal
FMUP – Faculdade de Medicina da Universidade do Porto, Porto, Portugal
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et al. 2019 , Hong et al. 2020 , Song et al. 2021 ). Besides the menin 1 gene ( MEN1 ) (mutated in 21–44%), novel genes started to be regarded as essential players in PanNEN tumorigenesis, such as the ATRX chromatin remodeler ( ATRX ) (11
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Department of Endocrinology, Amsterdam University Medical Centers, VU University Medical Center, Amsterdam, The Netherlands
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insulinoma. Indolent Aggressive Cases (%) Cases (%) YY1 92/396 (23%) 6/35 (17%) MEN1 10/198 (5%) 1/9 (11%) ALT-phenotype 3/41 (7%) 5/7 (71%) ATRX or DAXX 3/212 (1%) 5/10 (50%) CDKN2A
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the correlation between proliferative activity and tumor response. Clinically aggressive pNETs are also characterized by chromosomal instability (CIN) ( Jonkers et al . 2005 ), which has been recently associated with loss of DAXX/ATRX and activation
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GCB Graduate School Bern, Bern, Switzerland
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GCB Graduate School Bern, Bern, Switzerland
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Introduction The molecular pathways and mechanisms underlying initiation and progression of pancreatic neuroendocrine tumors (PanNET) are still poorly understood. Mutations in DAXX (death domain-associated protein) and ATRX (ATR-X) with
Section of Endocrinology, Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands
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sequenced tumors. Additionally, DAXX was found to be mutated in 22–25% of all tumor samples, while ATRX was mutated in 10–17% of all tumors. Menin (the MEN1 protein), DAXX and ATRX are epigenetic regulators. Menin is involved in histone modification
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Department of Pathology and laboratory medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
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Weill Medical College of Cornell University, New York, New York, USA
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Weill Medical College of Cornell University, New York, New York, USA
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-differentiated panNENs more frequently harbor alterations in the tumor suppressor gene MEN1 , the chromatin remodeling genes ( DAXX / ATRX ), and in the mTOR pathway ( Jiao et al. 2011 ). In contrast, genetic profiling of poorly differentiated neuroendocrine
Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland
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Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland
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chromatin remodelling and gene expression ( Agarwal et al . 1999 ). The first WES in PanNET reported, in 43% of the cases, mutations in DAXX (death-domain-associated protein) or ATRX (alpha thalassemia/mental retardation syndrome X-linked) ( Jiao et
University College London Cancer Institute, Neuroendocrine Tumour Unit, 72 Huntley Street, London WC1E 6BT, UK
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University College London Cancer Institute, Neuroendocrine Tumour Unit, 72 Huntley Street, London WC1E 6BT, UK
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discovery of mutations in the novel tumour suppressor genes and chromatin remodellers ATRX/DAXX through exome sequencing represent significant progress in our understanding of neuroendocrine tumour (NET) development. NETs are a heterogenous group of