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Nine PRUNE2 germline mutations (MAF \u003C 0.05) were detected via targeted panel analysis, with potentially damaging variants found across parathyroid cancer, atypical tumors, and benign adenomas. Mutation status showed no clear association with tumor group, clinical presentation, or disease severity. Rare germline PRUNE2 findings may nonetheless contribute to parathyroid neoplasm pathogenesis.",{"@graph":14,"@context":73},[15,34,56],{"@type":16,"itemListElement":17},"BreadcrumbList",[18,23,27,31],{"item":19,"name":20,"@type":21,"position":22},"https://docshare.wps.com","Home","ListItem",1,{"item":24,"name":25,"@type":21,"position":26},"https://docshare.wps.com/document/","Document",2,{"item":28,"name":29,"@type":21,"position":30},"https://docshare.wps.com/document/healthcare/","Healthcare",3,{"item":32,"name":10,"@type":21,"position":33},"https://docshare.wps.com/document/novel-prune2-germline-mutations-in-aggressive-and-benign-parathyroid-neoplasms/383360/",4,{"url":32,"name":10,"@type":35,"image":36,"author":41,"headline":10,"publisher":44,"fileFormat":47,"inLanguage":8,"description":12,"dateModified":48,"datePublished":49,"encodingFormat":47,"isAccessibleForFree":50,"interactionStatistic":51},"DigitalDocument",{"url":37,"@type":38,"width":39,"height":40},"https://docshare.wps.com/thumbnails/novel-prune2-germline-mutations-in-aggressive-and-benign-parathyroid-neoplasms/383360.png","ImageObject",300,407,{"name":42,"@type":43},"Jiven","Person",{"url":19,"name":45,"@type":46},"DocShare","Organization","application/pdf","2026-10-30","2026-09-24",true,{"@type":52,"interactionType":53,"userInteractionCount":55},"InteractionCounter",{"@type":54},"ViewAction",8,{"@type":57,"mainEntity":58},"FAQPage",[59,65,69],{"name":60,"@type":61,"acceptedAnswer":62},"What was the study aim regarding PRUNE2 in parathyroid tumors?","Question",{"text":63,"@type":64},"To investigate the germline mutation status of PRUNE2 in a large cohort of patients with parathyroid tumors from the genetically homogeneous Finnish population.","Answer",{"name":66,"@type":61,"acceptedAnswer":67},"How were PRUNE2 germline mutations identified and evaluated?",{"text":68,"@type":64},"Patients were screened using a targeted gene panel analysis, and identified PRUNE2 germline mutations were assessed with respect to minor allele frequency and predicted impact.",{"name":70,"@type":61,"acceptedAnswer":71},"Did PRUNE2 germline mutation status relate to tumor type or clinical severity?",{"text":72,"@type":64},"No. The mutational status was not associated with the tumor group and showed no relation to the clinical picture or severity of the disease.","https://schema.org",{"og:url":32,"og:type":75,"og:title":10,"og:site_name":45,"og:description":12},"article",{"robots":77,"canonical":32},"index,follow",{"doc_id":79,"site_id":7},383360,1790855418,{"code":4,"msg":82,"data":83},"success",[84,88,92,96,101,106,110,114,119,122,126],{"id":22,"doc_module":4,"doc_module_name":25,"category_name":85,"show_sort_weight":86,"slug":87},"Story & Novel",90,"story-novel",{"id":26,"doc_module":4,"doc_module_name":25,"category_name":89,"show_sort_weight":90,"slug":91},"Literature",80,"literature",{"id":33,"doc_module":4,"doc_module_name":25,"category_name":93,"show_sort_weight":94,"slug":95},"Exam",70,"exam",{"id":97,"doc_module":4,"doc_module_name":25,"category_name":98,"show_sort_weight":99,"slug":100},5,"Comic",60,"comic",{"id":102,"doc_module":4,"doc_module_name":25,"category_name":103,"show_sort_weight":104,"slug":105},6,"Technology",50,"technology",{"id":107,"doc_module":4,"doc_module_name":25,"category_name":29,"show_sort_weight":108,"slug":109},7,40,"healthcare",{"id":55,"doc_module":4,"doc_module_name":25,"category_name":111,"show_sort_weight":112,"slug":113},"Research & Report",30,"research-report",{"id":115,"doc_module":4,"doc_module_name":25,"category_name":116,"show_sort_weight":117,"slug":118},9,"Religion & Spirituality",20,"religion-spirituality",{"id":117,"doc_module":4,"doc_module_name":25,"category_name":120,"show_sort_weight":117,"slug":121},"World Cup","world-cup",{"id":123,"doc_module":4,"doc_module_name":25,"category_name":124,"show_sort_weight":123,"slug":125},10,"Lifestyle","lifestyle",{"id":127,"doc_module":4,"doc_module_name":25,"category_name":128,"show_sort_weight":97,"slug":129},19,"General","general",{"code":4,"msg":82,"data":131},{"doc_id":79,"user_id":132,"nickname":42,"user_avatar":133,"doc_module":4,"category_id":107,"category_name":29,"doc_title":10,"doc_description":12,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":55,"is_deleted":4,"is_public":22,"is_downloadable":22,"audit_status":22,"page_count":139,"language":140,"language_code":8,"site_id":7,"html_lang":8,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":12,"update_tm":144,"read_time":112},1099513958607,"https://ap-avatar.wpscdn.com/avatar/100002390cf8733938c?x-image-process=image/resize,m_fixed,w_180,h_180&k=1778829742770036399","cancers   \nArticle  \nNovel PRUNE2 Germline Mutations in Aggressive and Benign Parathyroid Neoplasms  \nSara Storvall 1, Eeva Ryhänen 1, Auli Karhu 2,3 and Camilla Schalin-Jäntti 1, *  \nCitation: Storvall, S.; Ryhänen, E.; Karhu, A.; Schalin-Jäntti, C. Novel PRUNE2 Germline Mutations in Aggressive and Benign Parathyroid Neoplasms. Cancers 2023, 15, 1405 . [https://doi.org/10.3390/](https://doi.org/10.3390/)[ ](https://doi.org/10.3390/)cancers15051405  \nAcademic Editors: Laura Giusti and Filomena Cetani  \nReceived: 28 January 2023  \nRevised: 17 February 2023  \nAccepted: 20 February 2023  \nPublished: 23 February 2023  \nCopyright: © 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ([https://](https://)[ ](https://)[creativecommons.org/licenses/by/](creativecommons.org/licenses/by/)[ ](creativecommons.org/licenses/by/)[4.0/](4.0/)) .  \n1 Department of Endocrinology, Abdominal Center, University of Helsinki, Helsinki University Hospital, Haartmaninkatu 4, 00290 Helsinki, Finland  \n2 Department of Applied Tumor Genomics, Research Programs Unit, University of Helsinki,  \n00290 Helsinki, Finland  \n3 Department of Medical and Clinical Genetics, University of Helsinki, 00290 Helsinki, Finland  \n* Correspondence: camilla.schalin-jantti@hus.fi  \nSimple Summary: Recently, PRUNE2 mutations were indicated in the pathogenesis of aggressive parathyroid neoplasms. Here, we report novel, rare PRUNE2 mutations located in exons 3, 8, 9, and 12 in patients with parathyroid tumors in the genetically homogenous Finnish population. Weidentified PRUNE2 mutations in patients with parathyroid carcinoma, atypical parathyroid tumors, and adenomas. While further research is needed, mutations of the PRUNE2 gene could play a role in the pathogenesis of parathyroid tumors.  \nAbstract: Parathyroid tumors are mostly sporadic but can also occur in familial forms, including different kinds of genetic syndromes with varying phenotypes and penetrance. Recently, somatic mutations of the tumor suppressor gene PRUNE2 were found to be frequent in parathyroid cancer (PC) . The germline mutation status of PRUNE2 was investigated in a large cohort of patients with parathyroid tumors from the genetically homogenous Finnish population, 15 of which had PC, 16 atypical parathyroid tumors (APT), and 6 benign parathyroid adenomas (PA) . Mutations in previously established hyperparathyroidism-related genes were screened with a targeted gene panel analysis. Nine PRUNE2 germline mutations with a minor allele frequency (MAF) of \u003C0.05 were found in our cohort. Five of these were predicted to be potentially damaging and were identified in two patients with PC, two with APT, and three with PA. The mutational status was not associated with the tumor group nor related to the clinical picture or severity of the disease. Still, the frequent finding of rare germline mutations of PRUNE2 may point to the gene playing a role in the pathogenesis of parathyroid neoplasms.  \nKeywords: primary hyperparathyroidism; parathyroid carcinoma; whole-exome sequencing; PRUNE2; germline; mutation  \n1. Introduction  \nParathyroid carcinoma (PC) is a rare cause of primary hyperparathyroidism (PHPT) . In Finland, around 2–3 new cases are diagnosed every year [1] . In contrast, PHPT due to benign adenomas is very common with an incidence of 1–2/1000 people [2,3] . The clinical picture of PC is similar to that of PHPT caused by benign parathyroid adenomas (PA) . However, PC tumors are often larger than benign adenomas, and the clinical picture is usually more severe. PHPT due to benign adenomas is most common in postmenopausal women (gender ratio 3:1), while for PC, there is no gender difference, and incidence peaks at 40–50 years [4,5] . The diagnosis of PC is set based on unequivocal invasive characteristics on histopathological examination. Surgery is the only possible curative","cbCaipwP65wFI6wh","https://ap.wps.com/l/cbCaipwP65wFI6wh","pdf",841930,12,"English","# Introduction\n## Disease background and clinical features\n## Genetic syndromes and known germline drivers\n# Methods and cohort design\n## Targeted gene panel analysis\n# Results\n## PRUNE2 germline mutation findings\n## Predicted functional impact\n## Associations with clinical variables\n# Discussion and implications\n## Potential role of PRUNE2 in pathogenesis","[{\"question\":\"What was the study aim regarding PRUNE2 in parathyroid tumors?\",\"answer\":\"To investigate the germline mutation status of PRUNE2 in a large cohort of patients with parathyroid tumors from the genetically homogeneous Finnish population.\"},{\"question\":\"How were PRUNE2 germline mutations identified and evaluated?\",\"answer\":\"Patients were screened using a targeted gene panel analysis, and identified PRUNE2 germline mutations were assessed with respect to minor allele frequency and predicted impact.\"},{\"question\":\"Did PRUNE2 germline mutation status relate to tumor type or clinical severity?\",\"answer\":\"No. The mutational status was not associated with the tumor group and showed no relation to the clinical picture or severity of the disease.\"}]","Novel PRUNE2 Germline Mutations in Aggressive and Benign Parathyroid Neoplasms | PDF",1790256355]