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Tiina Vesterinen HUSLAB, Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science, University of Helsinki, Helsinki, Finland

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Teijo Kuopio Department of Biological and Environmental Science, University of Jyväskylä and Department of Pathology, Central Finland Health Care District, Jyväskylä, Finland

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Maarit Ahtiainen Department of Education and Research, Central Finland Central Hospital, Jyväskylä, Finland

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Aija Knuuttila Department of Pulmonary Medicine, Heart and Lung Center, and Cancer Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Harri Mustonen Department of Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Kaisa Salmenkivi HUSLAB, Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Johanna Arola HUSLAB, Department of Pathology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland

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Caj Haglund Department of Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland
Translational Cancer Medicine Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland

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), which interacts with programmed death ligand 1 (PD-L1) expressed for example on the surface of various tumor cells and antigen-presenting cells ( 11 ). This interaction of PD-1 and PD-L1 inhibits an antitumor immune response in the tumor microenvironment

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Boju Pan Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Anqi Wang Clinical Biobank, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Junyi Pang Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Yuhan Zhang Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Ming Cui Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Jian Sun Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Zhiyong Liang Department of Pathology, Molecular Pathology Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

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Introduction Programmed death-1 (PD-1) and its ligand PD-L1 have been described as key regulators of T cell responses, and the interaction between PD-1 on T-cells and PD-L1 on cancer cells provides a mechanism for cancer cells to evade proper

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Erik Rösner Institute of Pharmacology and Toxicology, Jena University Hospital, Jena, Germany

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Daniel Kaemmerer Department of General and Visceral Surgery, Zentralklinik Bad Berka, Bad Berka, Germany

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Elisa Neubauer Institute of Pharmacology and Toxicology, Jena University Hospital, Jena, Germany

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Jörg Sänger Laboratory of Pathology and Cytology Bad Berka, Bad Berka, Germany

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Amelie Lupp Institute of Pharmacology and Toxicology, Jena University Hospital, Jena, Germany

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protein 1 (PD-1) and its ligand, programmed death ligand 1 (PD-L1), has emerged as a promising treatment strategy for several tumour types. PD-1 is expressed on B and T lymphocytes, as well as on myeloid cells, and acts as a costimulatory factor leading to

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Marra Jai Aghajani Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia

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Tara Laurine Roberts Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
South West Sydney Clinical School, UNSW Sydney, Sydney, Australia

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Tao Yang School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Saint Vincent’s Clinical School, UNSW Sydney, Sydney, Australia
SydPath, Saint Vincent’s Hospital, Sydney, Australia

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Charles Eugenio McCafferty Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia

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Nicole J Caixeiro Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Centre for Oncology Education and Research Translation (CONCERT), Liverpool, New South Wales, Australia

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Paul DeSouza Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
South West Sydney Clinical School, UNSW Sydney, Sydney, Australia

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Navin Niles Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Department of Head & Neck Surgery, Liverpool Hospital, Liverpool, New South Wales, Australia
Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia

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activated T, B and natural killer (NK) cells ( 6 ). PD-1 interacts with two ligands, programmed cell death-ligand 1 (PD-L1/B7H1/CD274) and programmed cell death-ligand 2 (PD-L2/B7DC/CD273) ( 7 ). PD-L1 is expressed on specific tumour and immune cells

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Marra Jai Aghajani Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia

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Tao Yang School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Saint Vincent’s Clinical School, UNSW Sydney, Sydney, Australia
SydPath, Saint Vincent’s Hospital, Sydney, Australia

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Ulf Schmitz Computational BioMedicine Laboratory Centenary Institute, The University of Sydney, Camperdown, New South Wales, Australia
Gene & Stem Cell Therapy Program Centenary Institute, The University of Sydney, Camperdown, New South Wales, Australia
Faculty of Medicine & Health, The University of Sydney, Camperdown, New South Wales, Australia

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Alexander James Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia

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Charles Eugenio McCafferty Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia

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Paul de Souza Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
School of Medicine, University of Wollongong, New South Wales, Australia

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Navin Niles Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
Department of Head & Neck Surgery, Liverpool Hospital, Liverpool, New South Wales, Australia
Department of Clinical Medicine, Faculty of Medicine and Health Sciences, Macquarie University, Sydney, Australia

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Tara L Roberts Ingham Institute for Applied Medical Research, Liverpool, New South Wales, Australia
School of Medicine, Western Sydney University, Campbelltown, New South Wales, Australia
South West Sydney Clinical School, UNSW Sydney, Sydney, Australia

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role in the regulation of peripheral tolerance ( 9 ). Two PD1 binding ligands have been identified; programmed death ligand 1 (PD‐L1) and programmed death ligand 2 (PD‐L2) ( 9 ). PD‐L1 is expressed by various human tumours and, following binding to PD

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Maria Stelmachowska-Banaś Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

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Izabella Czajka-Oraniec Department of Endocrinology, The Centre of Postgraduate Medical Education, Warsaw, Polska, Poland

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(PD-L1) (atezolizumab, avelumab), resulting in T-cell activation and anti-tumor activity. However, immune checkpoints also play a crucial role in maintaining immunological self-tolerance and preventing autoimmune disorders. Interfering with this

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Jaafar Jaafar Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Eugenio Fernandez Department of Oncology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Heba Alwan Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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Jacques Philippe Division of Endocrinology and Diabetology, Geneva University Hospitals and Faculty of Medicine, Geneva, Switzerland

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-1 antibodies (PD-1 Ab) and its ligand programmed cell death ligand 1 antibodies (PD-L1 Ab), has undoubtedly been proven in the management of several advanced cancers, namely melanoma, non-small cell lung cancers (NSCLC), urothelial cancers, head and

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Zhaoxiang Liu Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Mingqiang Zhang Department of Respiratory and Critical Care Medicine, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Xiaohu Shi Department of Traditional Chinese Medicine, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China

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Wenhui Zhao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Chenxiang Cao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Lixia Jin Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Yanlei Wang Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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Jianzhong Xiao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, China

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(PD-1) ( 8 ). It has been reported that programmed cell death ligand 1 (PD-L1) and programmed cell death ligand 2 (PD-L2) expressed on MDSCs play a critical suppressive role on T cells ( 9 ). The PD-1/PD-L1 or PD-L2 axis is also involved in Treg

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Qiuli Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Lin-ang Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jian Su Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China

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Dali Tong Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Weihua Lan Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Luofu Wang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Gaolei Liu Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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Jun Zhang Department of Obstetrics, Third Affiliated Hospital of Sun Yat-sen University, Guangzhou, People’s Republic of China

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Victor Wei Zhang Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
AmCare Genomics Lab, Guangzhou, People’s Republic of China

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Dianzheng Zhang Department of Bio-Medical Sciences, Philadelphia College of Osteopathic Medicine, Philadelphia, Pennsylvania, USA

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Rongrong Chen Geneplus-Beijing Institute, Beijing, People’s Republic of China

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Qingyi Zhu Department of Urology, Affiliated Hospital of Nanjing University of Traditional Chinese Medical, Nanjing, People’s Republic of China

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Jun Jiang Department of Urology, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing, People’s Republic of China

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mutation, consisting of c.1118A>T, p.H373L, and c.1459_1467del9, p.D487_F489del in the CYP17A1 gene ( Fig. 2B ). Sanger sequencing was conducted on the family members, and the patient’s two sisters were found to have the same compound heterozygous

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Shih-Rong Lin Institute of Medical Sciences, Tzu Chi University, Hualien, Taiwan

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Shih-Fen Chen Department of Obstetrics and Gynecology, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan

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Yu-Cih Yang Management Office for Health Data, China Medical University Hospital, Taichung, Taiwan

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Chung-Y Hsu Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan

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Yu-Chih Shen Institute of Medical Sciences, Tzu Chi University, Hualien, Taiwan
Department of Psychiatry, Hualien Tzu Chi Hospital, Buddhist Tzu Chi Medical Foundation, Hualien, Taiwan
School of Medicine, Tzu Chi University, Hualien, Taiwan

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( 4 ). Epidemiological evidence has suggested a link between hyperthyroidism and incident PD. A nationwide population-based cohort study in Sweden that followed 34,735 patients with Graves’ disease/hyperthyroidism has reported a 1.42-fold increased

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