Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review

Abstract Context 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 expresse...

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Veröffentlicht in:The journal of clinical endocrinology and metabolism 2023-12, Vol.108 (12), p.e1720-e1730
Hauptverfasser: Pellikaan, Karlijn, Nguyen, Naomi Q C, Rosenberg, Anna G W, Coupaye, Muriel, Goldstone, Anthony P, Høybye, Charlotte, Markovic, Tania, Grugni, Graziano, Crinò, Antonino, Caixàs, Assumpta, Poitou, Christine, Corripio, Raquel, Nieuwenhuize, Rosa M, van der Lely, Aart J, de Graaff, Laura C G
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container_issue 12
container_start_page e1720
container_title The journal of clinical endocrinology and metabolism
container_volume 108
creator Pellikaan, Karlijn
Nguyen, Naomi Q C
Rosenberg, Anna G W
Coupaye, Muriel
Goldstone, Anthony P
Høybye, Charlotte
Markovic, Tania
Grugni, Graziano
Crinò, Antonino
Caixàs, Assumpta
Poitou, Christine
Corripio, Raquel
Nieuwenhuize, Rosa M
van der Lely, Aart J
de Graaff, Laura C G
description Abstract Context 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. Objective To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. Methods 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. Results 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. Conclusion 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.
doi_str_mv 10.1210/clinem/dgad312
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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. Objective To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. Methods 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. Results 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. Conclusion 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.</description><identifier>ISSN: 0021-972X</identifier><identifier>ISSN: 1945-7197</identifier><identifier>EISSN: 1945-7197</identifier><identifier>DOI: 10.1210/clinem/dgad312</identifier><identifier>PMID: 37267430</identifier><language>eng</language><publisher>US: Oxford University Press</publisher><subject>Acute lymphoblastic leukemia ; Adenocarcinoma ; Adolescent ; Adult ; Age ; Appetite loss ; Autoimmune diseases ; Body weight loss ; Cancer ; Cancer screening ; Child ; Chromosome 15 ; Chromosome deletion ; Chromosomes ; Colon cancer ; Colorectal cancer ; Diagnosis ; Fathers ; Genes ; Health aspects ; Humans ; Hyperphagia ; Hypothalamus ; Life span ; Literature reviews ; Lymphatic leukemia ; Malignancy ; Medical records ; Medical screening ; Melanoma ; Middle Aged ; Neurodevelopmental disorders ; Obesity ; Paraneoplastic syndrome ; Patients ; Prader-Willi syndrome ; Prader-Willi Syndrome - complications ; Prader-Willi Syndrome - diagnosis ; Prader-Willi Syndrome - epidemiology ; Retrospective Studies ; Risk factors ; Weight control ; Young Adult</subject><ispartof>The journal of clinical endocrinology and metabolism, 2023-12, Vol.108 (12), p.e1720-e1730</ispartof><rights>The Author(s) 2023. Published by Oxford University Press on behalf of the Endocrine Society. 2023</rights><rights>The Author(s) 2023. 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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. Objective To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. Methods 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. Results 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. Conclusion 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.</description><subject>Acute lymphoblastic leukemia</subject><subject>Adenocarcinoma</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Appetite loss</subject><subject>Autoimmune diseases</subject><subject>Body weight loss</subject><subject>Cancer</subject><subject>Cancer screening</subject><subject>Child</subject><subject>Chromosome 15</subject><subject>Chromosome deletion</subject><subject>Chromosomes</subject><subject>Colon cancer</subject><subject>Colorectal cancer</subject><subject>Diagnosis</subject><subject>Fathers</subject><subject>Genes</subject><subject>Health aspects</subject><subject>Humans</subject><subject>Hyperphagia</subject><subject>Hypothalamus</subject><subject>Life span</subject><subject>Literature reviews</subject><subject>Lymphatic leukemia</subject><subject>Malignancy</subject><subject>Medical records</subject><subject>Medical screening</subject><subject>Melanoma</subject><subject>Middle Aged</subject><subject>Neurodevelopmental disorders</subject><subject>Obesity</subject><subject>Paraneoplastic syndrome</subject><subject>Patients</subject><subject>Prader-Willi syndrome</subject><subject>Prader-Willi Syndrome - complications</subject><subject>Prader-Willi Syndrome - diagnosis</subject><subject>Prader-Willi Syndrome - epidemiology</subject><subject>Retrospective Studies</subject><subject>Risk factors</subject><subject>Weight control</subject><subject>Young Adult</subject><issn>0021-972X</issn><issn>1945-7197</issn><issn>1945-7197</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2023</creationdate><recordtype>article</recordtype><sourceid>TOX</sourceid><sourceid>EIF</sourceid><sourceid>D8T</sourceid><recordid>eNqFks2LFDEQxYMo7jh69SgBL3ro3Xx0J93elsHVhRHFD_QWatLVY9Z0MibdLvvfm2HGFWRBckhS-b3iPVKEPOXslAvOzqx3Acezfgu95OIeWfCubirNO32fLBgTvOq0-HZCHuV8xRiv60Y-JCdSC6VryRZkeAfebQME6zBTF-iHBD2m6qvz3tFPN6FPccRX9CPm2U-ZXpQrBbqGtEV6GSZMASYXA3i6it9jmiiEnq5deYBpTliEvxxePyYPBvAZnxz3Jfly8frz6m21fv_mcnW-rmzDxFS84gBYW7CDrJtGIu9kLTpVXNcKsN0opaHfaOD7aJ3iG-C61e3AlRhUbeWSVIe--Rp388bskhsh3ZgIzhxLP8oJjVKtlKrwLw78LsWfM-bJjC5b9B4Cxjkb0QohdccaWdDn_6BXcS7pfaG64pXxlrG_1BY8GheGOCWw-6bmXOuma9qmhFmS0zuosnocnY0BB1fqdwlsijknHG6TcWb2g2AOg2COg1AEz45u582I_S3-5-cL8PIAxHn3v2a_AXRgvPw</recordid><startdate>20231201</startdate><enddate>20231201</enddate><creator>Pellikaan, Karlijn</creator><creator>Nguyen, Naomi Q C</creator><creator>Rosenberg, Anna G W</creator><creator>Coupaye, Muriel</creator><creator>Goldstone, Anthony P</creator><creator>Høybye, Charlotte</creator><creator>Markovic, Tania</creator><creator>Grugni, Graziano</creator><creator>Crinò, Antonino</creator><creator>Caixàs, Assumpta</creator><creator>Poitou, Christine</creator><creator>Corripio, Raquel</creator><creator>Nieuwenhuize, Rosa M</creator><creator>van der Lely, Aart J</creator><creator>de Graaff, Laura C G</creator><general>Oxford University Press</general><scope>TOX</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7TM</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><scope>ADTPV</scope><scope>AOWAS</scope><scope>D8T</scope><scope>ZZAVC</scope><orcidid>https://orcid.org/0000-0002-0738-0275</orcidid><orcidid>https://orcid.org/0000-0001-7769-6331</orcidid><orcidid>https://orcid.org/0000-0002-0295-7063</orcidid><orcidid>https://orcid.org/0000-0001-8179-7071</orcidid><orcidid>https://orcid.org/0000-0002-1059-0126</orcidid></search><sort><creationdate>20231201</creationdate><title>Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review</title><author>Pellikaan, Karlijn ; Nguyen, Naomi Q C ; Rosenberg, Anna G W ; Coupaye, Muriel ; Goldstone, Anthony P ; Høybye, Charlotte ; Markovic, Tania ; Grugni, Graziano ; Crinò, Antonino ; Caixàs, Assumpta ; Poitou, Christine ; Corripio, Raquel ; Nieuwenhuize, Rosa M ; van der Lely, Aart J ; de Graaff, Laura C G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c502t-97efae4cacf34553e193429645346ae8b667adb7a10021961ba17878f162f64c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2023</creationdate><topic>Acute lymphoblastic leukemia</topic><topic>Adenocarcinoma</topic><topic>Adolescent</topic><topic>Adult</topic><topic>Age</topic><topic>Appetite loss</topic><topic>Autoimmune diseases</topic><topic>Body weight loss</topic><topic>Cancer</topic><topic>Cancer screening</topic><topic>Child</topic><topic>Chromosome 15</topic><topic>Chromosome deletion</topic><topic>Chromosomes</topic><topic>Colon cancer</topic><topic>Colorectal cancer</topic><topic>Diagnosis</topic><topic>Fathers</topic><topic>Genes</topic><topic>Health aspects</topic><topic>Humans</topic><topic>Hyperphagia</topic><topic>Hypothalamus</topic><topic>Life span</topic><topic>Literature reviews</topic><topic>Lymphatic leukemia</topic><topic>Malignancy</topic><topic>Medical records</topic><topic>Medical screening</topic><topic>Melanoma</topic><topic>Middle Aged</topic><topic>Neurodevelopmental disorders</topic><topic>Obesity</topic><topic>Paraneoplastic syndrome</topic><topic>Patients</topic><topic>Prader-Willi syndrome</topic><topic>Prader-Willi Syndrome - complications</topic><topic>Prader-Willi Syndrome - diagnosis</topic><topic>Prader-Willi Syndrome - epidemiology</topic><topic>Retrospective Studies</topic><topic>Risk factors</topic><topic>Weight control</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Pellikaan, Karlijn</creatorcontrib><creatorcontrib>Nguyen, Naomi Q C</creatorcontrib><creatorcontrib>Rosenberg, Anna G W</creatorcontrib><creatorcontrib>Coupaye, Muriel</creatorcontrib><creatorcontrib>Goldstone, Anthony P</creatorcontrib><creatorcontrib>Høybye, Charlotte</creatorcontrib><creatorcontrib>Markovic, Tania</creatorcontrib><creatorcontrib>Grugni, Graziano</creatorcontrib><creatorcontrib>Crinò, Antonino</creatorcontrib><creatorcontrib>Caixàs, Assumpta</creatorcontrib><creatorcontrib>Poitou, Christine</creatorcontrib><creatorcontrib>Corripio, Raquel</creatorcontrib><creatorcontrib>Nieuwenhuize, Rosa M</creatorcontrib><creatorcontrib>van der Lely, Aart J</creatorcontrib><creatorcontrib>de Graaff, Laura C G</creatorcontrib><collection>Oxford Journals Open Access Collection</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium &amp; 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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. Objective To investigate the prevalence and risk factors of malignancies in patients with PWS and to provide clinical recommendations for cancer screening. Methods 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. Results 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. Conclusion 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. 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subjects Acute lymphoblastic leukemia
Adenocarcinoma
Adolescent
Adult
Age
Appetite loss
Autoimmune diseases
Body weight loss
Cancer
Cancer screening
Child
Chromosome 15
Chromosome deletion
Chromosomes
Colon cancer
Colorectal cancer
Diagnosis
Fathers
Genes
Health aspects
Humans
Hyperphagia
Hypothalamus
Life span
Literature reviews
Lymphatic leukemia
Malignancy
Medical records
Medical screening
Melanoma
Middle Aged
Neurodevelopmental disorders
Obesity
Paraneoplastic syndrome
Patients
Prader-Willi syndrome
Prader-Willi Syndrome - complications
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - epidemiology
Retrospective Studies
Risk factors
Weight control
Young Adult
title Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review
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