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Department of Hepatobiliary and Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
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Department of Hepatobiliary and Pancreatic Surgery, Graduate School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan
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somatic mutations in the MEN1 , DAXX , ATRX and PTEN by whole exome sequencing analysis, resulting in loss of their functions ( Jiao et al . 2011 ). Since recurrent mutations of MEN1 - and PTEN -related genes are detected in pulmonary and
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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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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–17%), the death domain-associated protein ( DAXX ) (14–25%), and members of the mechanistic target of rapamycin kinase (mTOR) (9–15%) ( Jiao et al. 2011 , Scarpa et al. 2017 , Cives et al. 2019 , Hong et al. 2020 ). Currently, it is recognized
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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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Medical Genomics Laboratory, University College London Cancer Institute, University College London, 72 Huntley Street, London, WC1E 6BT, UK
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Medical Genomics Laboratory, University College London Cancer Institute, University College London, 72 Huntley Street, London, WC1E 6BT, UK
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Medical Genomics Laboratory, University College London Cancer Institute, University College London, 72 Huntley Street, London, WC1E 6BT, UK
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Dear Editor, Exome sequencing of sporadic pancreatic neuroendocrine tumours (PNETs) has identified mutually exclusive mutations in the chromatin regulators α-thalassaemia/mental retardation X-linked (ATRX) and death-associated protein 6 (DAXX
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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
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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