{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:23:37Z","timestamp":1791080617277,"version":"4.1.0"},"reference-count":105,"publisher":"The Endocrine Society","issue":"12","license":[{"start":{"date-parts":[[2023,6,2]],"date-time":"2023-06-02T00:00:00Z","timestamp":1685664000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,11,17]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Context<\/jats:title>\n                  <jats:p>Prader-Willi syndrome (PWS) is a complex disorder combining hypothalamic dysfunction, neurodevelopmental delay, hypotonia, and hyperphagia with risk of obesity and its complications. PWS is caused by the loss of expression of the PWS critical region, a cluster of paternally expressed genes on chromosome 15q11.2-q13. As life expectancy of patients with PWS increases, age-related diseases like malignancies might pose a new threat to health.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Objective<\/jats:title>\n                  <jats:p>To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We included 706 patients with PWS (160 children, 546 adults). We retrospectively collected data from medical records on past or current malignancies, the type of malignancy, and risk factors for malignancy. Additionally, we searched the literature for information about the relationship between genes on chromosome 15q11.2-q13 and malignancies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Seven adults (age range, 18-55 years) had been diagnosed with a malignancy (acute lymphoblastic leukemia, intracranial hemangiopericytoma, melanoma, stomach adenocarcinoma, biliary cancer, parotid adenocarcinoma, and colon cancer). All patients with a malignancy had a paternal 15q11-13 deletion. The literature review showed that several genes on chromosome 15q11.2-q13 are related to malignancies.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>Malignancies are rare in patients with PWS. Therefore, screening for malignancies is only indicated when clinically relevant symptoms are present, such as unexplained weight loss, loss of appetite, symptoms suggestive of paraneoplastic syndrome, or localizing symptoms. Given the increased cancer risk associated with obesity, which is common in PWS, participation in national screening programs should be encouraged.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad312","type":"journal-article","created":{"date-parts":[[2023,6,3]],"date-time":"2023-06-03T04:26:55Z","timestamp":1685766415000},"page":"e1720-e1730","source":"Crossref","is-referenced-by-count":14,"title":["Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review"],"prefix":"10.1210","volume":"108","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0738-0275","authenticated-orcid":false,"given":"Karlijn","family":"Pellikaan","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi Q C","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna G W","family":"Rosenberg","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muriel","family":"Coupaye","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Rare Diseases Center of Reference \u2018Prader-Willi Syndrome and Obesity with Eating Disorders\u2019 (PRADORT), Nutrition Department, Institute of Cardiometabolism and Nutrition, ICAN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, INSERM, Nutriomics , F75013 Paris , France"},{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8179-7071","authenticated-orcid":false,"given":"Anthony P","family":"Goldstone","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"PsychoNeuroEndocrinology Research Group, Division of Psychiatry, Department of Brain Sciences, Faculty of Medicine, Imperial College London , London SW7 2AZ , UK"},{"name":"Imperial Centre for Endocrinology, Imperial College Healthcare NHS Trust, Hammersmith Hospital , London W12 0NN , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charlotte","family":"H\u00f8ybye","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"},{"name":"Department of Molecular Medicine and Surgery and Department of Endocrinology, Karolinska Institute and Karolinska University Hospital , 17176 Stockholm , Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tania","family":"Markovic","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Metabolism & Obesity Services, Royal Prince Alfred Hospital , Camperdown, NSW 2050 , Australia"},{"name":"Boden Initiative, Charles Perkins Centre, University of Sydney , Camperdown, NSW 2006 , Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziano","family":"Grugni","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"},{"name":"Division of Auxology, Istituto Auxologico Italiano, IRCCS , 20095 Piancavallo VB , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonino","family":"Crin\u00f2","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Reference Center for Prader-Willi syndrome, Bambino Ges\u00f9 Hospital, Research Institute , 00165 Palidoro (Rome) , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Assumpta","family":"Caix\u00e0s","sequence":"additional","affiliation":[{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"Department of Endocrinology and Nutrition, Hospital Universitari Parc Taul\u00ed, Institut d\u2019Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT) and Department of Medicine, Universitat Aut\u00f2noma de Barcelona , 08208 Sabadell , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7769-6331","authenticated-orcid":false,"given":"Christine","family":"Poitou","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Rare Diseases Center of Reference \u2018Prader-Willi Syndrome and Obesity with Eating Disorders\u2019 (PRADORT), Nutrition Department, Institute of Cardiometabolism and Nutrition, ICAN, Piti\u00e9-Salp\u00eatri\u00e8re Hospital, Sorbonne Universit\u00e9, INSERM, Nutriomics , F75013 Paris , France"},{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference Network)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Corripio","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology, Parc Taul\u00ed Hospital Universitari, Research and Innovation Institute Parc Taul\u00ed I3PT, Autonomous University of Barcelona , 08208 Sabadell , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa M","family":"Nieuwenhuize","sequence":"additional","affiliation":[{"name":"Department of Medical Oncology, Erasmus MC, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1059-0126","authenticated-orcid":false,"given":"Aart J","family":"van der Lely","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"ENDO-ERN (European Reference Network)"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0295-7063","authenticated-orcid":false,"given":"Laura C G","family":"de Graaff","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Center for Adults with Rare Genetic Syndromes, Department of Internal Medicine, Division of Endocrinology, Erasmus Medical Center, University Medical Center Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"Dutch Center of Reference for Prader\u2013Willi Syndrome , 3015 GD Rotterdam , The Netherlands"},{"name":"Academic Center for Growth Disorders, Erasmus Medical Center, University Medical Centre Rotterdam , 3015 GD Rotterdam , The Netherlands"},{"name":"International Network for Research, Management & Education on adults with Prader-Willi Syndrome (INfoRMEd-PWS)"},{"name":"ENDO-ERN (European Reference 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