problendoПроблемы ЭндокринологииProblems of Endocrinology0375-96602308-1430Endocrinology Research Centre10.14341/probl13543problendo-13543Research ArticleКлиническая эндокринологияClinical endocrinologyГенетический профиль образований околощитовидных желез: приоткрывая завесу тайныGenetic profiling of parathyroid tumours: lifting the veil of mysteryhttps://orcid.org/0009-0002-0383-5583БагироваХ. В.BagirovaH. V.

Багирова Ханум Вугаровна

117036, г. Москва, ул. Дмитрия Ульянова, д. 11

Hanum V. Bagirova

11 Dm.Ulyanova street, 117036 Moscow

hb1998@mail.ruhttps://orcid.org/0009-0009-6630-5871СпасскаяО. Ю.SpasskayaO. Yu.

Спасская Ольга Юрьевна

Москва

Olga Yu. Spasskaya

Moscow

ospasskaa@gmail.comhttps://orcid.org/0000-0001-7879-8495КимЕ. И.KimE. I.

Ким Екатерина Игоревна

Москва

Ekaterina I. Kim, MD

Moscow

kat-alex2007@mail.ruhttps://orcid.org/0000-0002-7285-6874ЛавренюкА. А.LavreniukA. A.

Лавренюк Анастасия Андреевна

Москва

Anastasiia A. Lavreniuk, MD

Moscow

lavrenyuk.anastasiya@endocrincentr.ruhttps://orcid.org/0000-0001-6667-062XЕремкинаА. К.EremkinaA. K.

Еремкина Анна Константиновна, к.м.н.

Москва

Anna K. Eremkina, MD, PhD

Moscow

eremkina.anna@endocrincentr.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна, д.м.н., профессор

Москва

Natalia G. Mokrysheva, MD, PhD, Professor 

Moscow

parathyroid.enc@gmail.comНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology research centreRussian Federation2025200520257123544Copyright © Багирова Х.В., Спасская О.Ю., Ким Е.И., Лавренюк А.А., Еремкина А.К., Мокрышева Н.Г., 20252025Багирова Х.В., Спасская О.Ю., Ким Е.И., Лавренюк А.А., Еремкина А.К., Мокрышева Н.Г.Bagirova H.V., Spasskaya O.Y., Kim E.I., Lavreniuk A.A., Eremkina A.K., Mokrysheva N.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.probl-endojournals.ru/jour/article/view/13543

Первичный гиперпаратиреоз (ПГПТ) — частое эндокринное нарушение, характеризующееся автономной секрецией паратгормона измененными околощитовидными железами (ОЩЖ). В большинстве случаев ПГПТ является спорадическим заболеванием, 5–10% наблюдений приходится на долю генетически детерминированных синдромальных и несиндромальных форм. Изучение семей с наследственными формами ПГПТ привело к открытию основных генов-онкосупрессоров и протоноонкогенов, соматические мутации которых лежат в основе развития многих спорадических опухолей ОЩЖ. Отдельный интерес в контексте патогенеза первичного гиперпаратиреоза уделяется изучению механизмов эпигенетической регуляции в ткани опухоли. В первой части обзора будут рассмотрены вопросы классификации, морфологии и этиологии ПГПТ. Во второй мы представим резюме основных исследований с применением генетического анализа, разделив их в зависимости от применяемого метода.

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterized by autonomous secretion of parathyroid hormone by altered parathyroid glands. In most cases PHPT is a sporadic disease, 5-10% of observations are genetically determined syndromal and non-syndromal forms. Studies of families with hereditary forms of PHPT have led to the discovery of key oncosuppressor genes and proto-oncogenes whose somatic mutations underlie the development of many sporadic parathyroid tumors. Another interest in the pathogenesis of primary hyperparathyroidism is studying mechanisms of epigenetic regulation in tumor tissue. In the first part of this review, we will discuss the classification, morphology, and etiology of PHPT. In the second part, we will present a summary of the most important studies using genetic analysis, classified according to the method used.

первичный гиперпаратиреозобразования околощитовидных железгенетические методы исследованиясравнительная геномная гибридизацияполноэкзомное секвенированиеполногеномное секвенированиеРНК-секвенированиеэпигенетикаprimary hyperparathyroidismparathyroid tumoursgenetic research methodscomparative genomic hybridisationwhole exome sequencingwhole genome sequencingRNA sequencingepigeneticsИсследование выполнено за счет средств гранта РНФ. Название проекта “Геномный, транскриптомный и иммуногистохимический профиль при первично множественном поражении околощитовидных желез”. Номер проекта: 24-15-00269.Mokrysheva NG, Eremkina AK, Elfimova AR, et al. The Russian registry of primary hyperparathyroidism, latest update. Front Endocrinol (Lausanne). 2023;14:1203437. doi: https://doi.org/10.3389/FENDO.2023.1203437/BIBTEXFraser William D Hyperparathyroidism The Lancet 2009 07 145 158 374 9684 10.1016/s0140-6736(09)60507-9Silverberg Shonni J. Primary Hyperparathyroidism Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism 2013 08 543 552 10.1002/9781118453926.ch68Mamedova Elizaveta Mokrysheva Natalya Vasilyev Evgeny Petrov Vasily Pigarova Ekaterina Kuznetsov Sergey Kuznetsov Nikolay Rozhinskaya Liudmila Melnichenko Galina Dedov Ivan Tiulpakov Anatoly Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome Endocrine Connections 2017 09 557 565 6 8 10.1530/ec-17-0126Chandran Manju Primary Hyperparathyroidism Evidence-Based Endocrine Surgery 2018 09 217 233 10.1007/978-981-10-1124-5_18Barakat Maha T Ashrafian Houman Todd Jeannie F Meeran Karim Williams Graham R Severe hypercalcaemia from secretion of parathyroid hormone-related peptide The Lancet Oncology 2004 09 633 635 5 10 10.1016/s1470-2045(04)01599-2Pepe Jessica Cipriani Cristiana Sonato Chiara Raimo Orlando Biamonte Federica Minisola Salvatore Cardiovascular manifestations of primary hyperparathyroidism: a narrative review European Journal of Endocrinology 2017 09 R297 R308 177 6 10.1530/eje-17-0485Chai Young Chae Heejoon Kim Kwangsoo Lee Heonyi Choi Seongmin Lee Kyu Kim Sang Comparative Gene Expression Profiles in Parathyroid Adenoma and Normal Parathyroid Tissue Journal of Clinical Medicine 2019 03 297 8 3 10.3390/jcm8030297Newey Paul J. Nesbit M. Andrew Rimmer Andrew J. Attar Moustafa Head Rosie T. Christie Paul T. Gorvin Caroline M. Stechman Michael Gregory Lorna Mihai Radu Sadler Greg McVean Gil Buck David Thakker Rajesh V. Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas The Journal of Clinical Endocrinology & Metabolism 2012 10 E1995 E2005 97 10 10.1210/jc.2012-2303Evangelista Laura FDG-PET/CT and parathyroid carcinoma: Review of literature and illustrative case series World Journal of Clinical Oncology 2011 10 348 2 10 10.5306/wjco.v2.i10.348Severskaya N. V. Ilyin A. A. Chebotareva I. V. Zhelonkina N. V. Polkin V. V. Isaev P. A. Derbugov D. N. Podvyaznikov S. O. Parathyroid carcinoma. The experience of treatment of 15 patients and a review Head and Neck Tumors (HNT) 2020 11 19 26 10 3 10.17650/2222-1468-2020-10-3-19-26Erickson Lori A. Mete Ozgur Juhlin C. Christofer Perren Aurel Gill Anthony J. Overview of the 2022 WHO Classification of Parathyroid Tumors Endocrine Pathology 2022 02 64 89 33 1 10.1007/s12022-022-09709-1Venkatachala Sandhya Kumar SRajesh Premkumar S Double adenoma of the parathyroid: Reinforcing the existence of this entity Indian Journal of Pathology and Microbiology 2013 10 328 56 3 10.4103/0377-4929.120420Gunasekaran S Wallace H Snowden C Mikl D England R J A Parathyroid ectopia: development of a surgical algorithm based on operative findings The Journal of Laryngology & Otology 2015 09 1115 1120 129 11 10.1017/s0022215115002273Cetani Filomena Marcocci Claudio Torregrossa Liborio Pardi Elena Atypical parathyroid adenomas: challenging lesions in the differential diagnosis of endocrine tumors Endocrine-Related Cancer 2019 05 R441 R464 26 7 10.1530/erc-19-0135Sandelin Kerstin Tullgren Owe Farnebo Lars Ove Clinical course of metastatic parathyroid cancer World Journal of Surgery 2004 10 594 598 18 4 10.1007/bf00353773Wassif W S Moniz C F Friedman E Wong S Weber G Nordenskjöld M Peters T J Larsson C Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. The Journal of Clinical Endocrinology & Metabolism 2014 01 1485 1489 77 6 10.1210/jcem.77.6.7903311Barczyński Marcin Bränström Robert Dionigi Gianlorenzo Mihai Radu Sporadic multiple parathyroid gland disease—a consensus report of the European Society of Endocrine Surgeons (ESES) Langenbeck's Archives of Surgery 2015 11 887 905 400 8 10.1007/s00423-015-1348-1Baloch Zubair W. LiVolsi Virginia A. Double Adenoma of the Parathyroid Gland Archives of Pathology & Laboratory Medicine 2021 01 178 179 125 2 10.5858/2001-125-0178-daotpgDeLellis Ronald A Mangray Shamlal Heritable forms of primary hyperparathyroidism: a current perspective Histopathology 2017 12 117 132 72 1 10.1111/his.13306Brook Itzhak Late side effects of radiation treatment for head and neck cancer Radiation Oncology Journal 2020 06 84 92 38 2 10.3857/roj.2020.00213Imanishi Yasuo Hosokawa Yoshitaka Yoshimoto Katsuhiko Schipani Ernestina Mallya Sanjay Papanikolaou Alexandros Kifor Olga Tokura Takehiko Sablosky Marilyn Ledgard Felicia Gronowicz Gloria Wang Timothy C. Schmidt Emmett V. Hall Charles Brown Edward M. Bronson Roderick Arnold Andrew Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice Journal of Clinical Investigation 2008 02 1093 1102 107 9 10.1172/jci10523Bertolino Philippe Tong Wei-Min Galendo Dominique Wang Zhao-Qi Zhang Chang-Xian HeterozygousMen1Mutant Mice Develop a Range of Endocrine Tumors Mimicking Multiple Endocrine Neoplasia Type 1 Molecular Endocrinology 2003 06 1880 1892 17 9 10.1210/me.2003-0154Miedlich S Krohn K Lamesch P Muller A Paschke R Frequency of somatic MEN1 gene mutations in monoclonal parathyroid tumours of patients with primary hyperparathyroidism European Journal of Endocrinology 2005 01 47 54 10.1530/eje.0.1430047Heppner Christina Kester Mary Beth Agarwal Sunita K. Debelenko Larisa V. Emmert-Buck Michael R. Guru Siradanahalli C. Manickam Pachiappan Olufemi Shodimu-Emmanuel Skarulis Monica C. Doppman John L. Alexander Richard H. Kim Young S. Saggar Suraj K. Lubensky Irina A. Zhuang Zhengping Liotta Lance A. Chandrasekharappa Settara C. Collins Francis S. Spiegel Alien M. Burns A. Lee Marx Stephen J. Somatic mutation of the MEN1 gene in parathyroid tumours Nature Genetics 2004 08 375 378 16 4 10.1038/ng0897-375Chandrasekharappa Settara C. Guru Siradanahalli C. Manickam Pachiappan Olufemi Shodimu-Emmanuel Collins Francis S. Emmert-Buck Michael R. Debelenko Larisa V. Zhuang Zhengping Lubensky Irina A. Liotta Lance A. Crabtree Judy S. Wang Yingping Roe Bruce A. Weisemann Jane Boguski Mark S. Agarwal Sunita K. Kester Mary Beth Kim Young S. Heppner Christina Dong Qihan Spiegel Allen M. Burns A. Lee Marx Stephen J. Positional Cloning of the Gene for Multiple Endocrine Neoplasia-Type 1 Science 2002 07 404 407 276 5311 10.1126/science.276.5311.404Iacobone Maurizio Carnaille Bruno Palazzo F. Fausto Vriens Menno Hereditary hyperparathyroidism—a consensus report of the European Society of Endocrine Surgeons (ESES) Langenbeck's Archives of Surgery 2015 10 867 886 400 8 10.1007/s00423-015-1342-7Yi Y. Nowak Norma J. Pacchia Annmarie L. Morrison Carl Chromosome 11 genomic changes in parathyroid adenoma and hyperplasia: Array CGH, FISH, and tissue microarrays Genes, Chromosomes and Cancer 2008 04 639 648 47 8 10.1002/gcc.20565Mallya Sanjay, M. Cyclin D1 in parathyroid disease Frontiers in Bioscience 2007 05 d367 5 1 10.2741/mallyaMarini F Molecular genetics in primary hyperparathyroidism: the role of genetic tests in differential diagnosis, disease prevention strategy, and therapeutic planning. A 2017 update Clinical Cases in Mineral and Bone Metabolism 2017 07 60 14 1 10.11138/ccmbm/2017.14.1.060Newey Paul J. Bowl Michael R. Cranston Treena Thakker Rajesh V. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors Human Mutation 2010 01 295 307 31 3 10.1002/humu.21188Marini F, Giusti F, Palmini G, Perigli G, Santoro R, Brandi ML. Genetics and Epigenetics of Parathyroid Carcinoma. Front Endocrinol (Lausanne). 2022;13:834362. doi: https://doi.org/10.3389/FENDO.2022.834362/BIBTEXMcCoy Kelly L. Seethala Raja R. Armstrong Michaele J. Nikiforova Marina N. Stang Michael T. Carty Sally E. Yip Linwah The clinical importance of parathyroid atypia: Is long-term surveillance necessary? Surgery 2015 07 929 936 158 4 10.1016/j.surg.2015.06.022Cardoso Luís Stevenson Mark Thakker Rajesh V. Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma Human Mutation 2017 09 1621 1648 38 12 10.1002/humu.23337Knudson Alfred G. Mutation and Cancer: Statistical Study of Retinoblastoma Proceedings of the National Academy of Sciences 2006 05 820 823 68 4 10.1073/pnas.68.4.820Kallioniemi Anne Kallioniemi Olli-P. Sudar Damir Rutovitz Denis Gray Joe W. Waldman Fred Pinkel Dan Comparative Genomic Hybridization for Molecular Cytogenetic Analysis of Solid Tumors Science 2006 10 818 821 258 5083 10.1126/science.1359641Agarwal Sunita K. Schröck Evelin Kester Mary Beth Burns A.Lee Heffess Clara S. Ried Thomas Marx Stephen J. Comparative Genomic Hybridization Analysis of Human Parathyroid Tumors Cancer Genetics and Cytogenetics 2002 07 30 36 106 1 10.1016/s0165-4608(98)00049-1Farnebo Filip Kytölä Soili Teh Bin Tean Dwight Trisha Wong Fung Ki Höög Anders Elvius Maria Wassif Wassif S. Thompson Norman W. Farnebo Lars-Ove Sandelin Kerstin Larsson Catharina Alternative Genetic Pathways in Parathyroid Tumorigenesis* The Journal of Clinical Endocrinology & Metabolism 2014 01 3775 3780 84 10 10.1210/jcem.84.10.6057Kytölä Soili Farnebo Filip Obara Takao Isola Jorma Grimelius Lars Farnebo Lars-Ove Sandelin Kerstin Larsson Catharina Patterns of Chromosomal Imbalances in Parathyroid Carcinomas The American Journal of Pathology 2011 01 579 586 157 2 10.1016/s0002-9440(10)64568-3Dwight Trisha Nelson Anne E. Theodosopoulos George Richardson Anne Louise Learoyd Diana L. Philips Jeanette Delbridge Leigh Zedenius Jan Teh Bin T. Larsson Catharina Marsh Deborah J. Robinson Bruce G. Independent Genetic Events Associated with the Development of Multiple Parathyroid Tumors in Patients with Primary Hyperparathyroidism The American Journal of Pathology 2011 01 1299 1306 161 4 10.1016/s0002-9440(10)64406-9Newey Paul J. Nesbit M. Andrew Rimmer Andrew J. Attar Moustafa Head Rosie T. Christie Paul T. Gorvin Caroline M. Stechman Michael Gregory Lorna Mihai Radu Sadler Greg McVean Gil Buck David Thakker Rajesh V. Whole-Exome Sequencing Studies of Nonhereditary (Sporadic) Parathyroid Adenomas The Journal of Clinical Endocrinology & Metabolism 2012 10 E1995 E2005 97 10 10.1210/jc.2012-2303Toska Eneda Osmanbeyoglu Hatice U. Castel Pau Chan Carmen Hendrickson Ronald C. Elkabets Moshe Dickler Maura N. Scaltriti Maurizio Leslie Christina S. Armstrong Scott A. Baselga José PI3K pathway regulates ER-dependent transcription in breast cancer through the epigenetic regulator KMT2D Science 2017 03 1324 1330 355 6331 10.1126/science.aah6893Tao Xiaohui Xu Tian Lin Xiaoyun Xu Shuqin Fan Youben Guo Bomin Deng Xianzhao Jiao Qiong Chen Lihui Wei Zhe Chen Chengkun Yang Wendi Zhang Zhenlin Yu Xiangtian Yue Hua Genomic Profiling Reveals the Variant Landscape of Sporadic Parathyroid Adenomas in Chinese Population The Journal of Clinical Endocrinology & Metabolism 2023 01 1768 1775 108 7 10.1210/clinem/dgad002Yu Willie McPherson John R Stevenson Mark van Eijk Ronald Heng Hong Lee Newey Paul Gan Anna Ruano Dina Huang Dachuan Poon Song Ling Ong Choon Kiat van Wezel Tom Cavaco Branca Rozen Steven G Tan Patrick Teh Bin T Thakker Rajesh V Morreau Hans Whole-Exome Sequencing Studies of Parathyroid Carcinomas Reveal NovelPRUNE2Mutations, Distinctive Mutational Spectra Related to APOBEC-Catalyzed DNA Mutagenesis and Mutational Enrichment in Kinases Associated With Cell Migration and Invasion The Journal of Clinical Endocrinology & Metabolism 2014 11 E360 E364 100 2 10.1210/jc.2014-3238Fischer Joachim Palmedo Gabriele von Knobloch Rolf Bugert Peter Prayer-Galetti Thomas Pagano Francesco Kovacs Gyula Duplication and overexpression of the mutant allele of the MET proto-oncogene in multiple hereditary papillary renal cell tumours Oncogene 2002 09 733 739 17 6 10.1038/sj.onc.1201983Pandya Chetanya Uzilov Andrew V. Bellizzi Justin Lau Chun Yee Moe Aye S. Strahl Maya Hamou Wissam Newman Leah C. Fink Marc Y. Antipin Yevgeniy Yu Willie Stevenson Mark Cavaco Branca M. Teh Bin T. Thakker Rajesh V. Morreau Hans Schadt Eric E. Sebra Robert Li Shuyu D. Arnold Andrew Chen Rong Genomic profiling reveals mutational landscape in parathyroid carcinomas JCI Insight 2017 03 2 6 10.1172/jci.insight.92061Clarke Callisia N Katsonis Panagiotis Hsu Teng-Kuei Koire Amanda M Silva-Figueroa Angelica Christakis Ioannis Williams Michelle D Kutahyalioglu Merve Kwatampora Lily Xi Yuanxin Lee Jeffrey E Koptez E Scott Busaidy Naifa L Perrier Nancy D Lichtarge Olivier Comprehensive Genomic Characterization of Parathyroid Cancer Identifies Novel Candidate Driver Mutations and Core Pathways Journal of the Endocrine Society 2018 09 544 559 3 3 10.1210/js.2018-00043Hu Ya Zhang Xiang Wang Ou Bi Yalan Xing Xiaoping Cui Ming Wang Mengyi Tao Wei Liao Quan Zhao Yupei The genomic profile of parathyroid carcinoma based on whole‐genome sequencing International Journal of Cancer 2020 06 2446 2457 147 9 10.1002/ijc.33166Kasaian Katayoon Wiseman Sam M Thiessen Nina Mungall Karen L Corbett Richard D Qian Jenny Q Nip Ka Ming He Ann Tse Kane Chuah Eric Varhol Richard J Pandoh Pawan McDonald Helen Zeng Thomas Tam Angela Schein Jacquie Birol Inanc Mungall Andrew J Moore Richard A Zhao Yongjun Hirst Martin Marra Marco A Walker Blair A Jones Steven JM Complete genomic landscape of a recurring sporadic parathyroid carcinoma The Journal of Pathology 2013 04 249 260 230 3 10.1002/path.4203Vivanco Igor Sawyers Charles L. The phosphatidylinositol 3-Kinase–AKT pathway in human cancer Nature Reviews Cancer 2002 07 489 501 2 7 10.1038/nrc839Cieślik Marcin Chinnaiyan Arul M. Cancer transcriptome profiling at the juncture of clinical translation Nature Reviews Genetics 2017 12 93 109 19 2 10.1038/nrg.2017.96Jo Se-Young Hong Namki Lee Seunghyun Jeong Jong Ju Won Jeongsoo Park Jiho Kim Gi Jeong Kim Sang Kyum Kim Sangwoo Rhee Yumie Genomic and transcriptomic profiling reveal molecular characteristics of parathyroid carcinoma Experimental & Molecular Medicine 2023 05 886 897 55 5 10.1038/s12276-023-00968-4Guo Xingyi Long Jirong Chen Zhishan Shu Xiao‐ou Xiang Yong‐Bing Wen Wanqing Zeng Chenjie Gao Yu‐Tang Cai Qiuyin Zheng Wei Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women International Journal of Cancer 2019 12 2175 2181 146 8 10.1002/ijc.32825Tan Ming Jie Teo Ziqiang Sng Ming Keat Zhu Pengcheng Tan Nguan Soon Emerging Roles of Angiopoietin-like 4 in Human Cancer Molecular Cancer Research 2012 06 677 688 10 6 10.1158/1541-7786.mcr-11-0519Lin Zhi-Rui Wang Meng-Yao He Shi-Yang Cai Zhi-Ming Huang Wei-Ren TACC3 transcriptionally upregulates E2F1 to promote cell growth and confer sensitivity to cisplatin in bladder cancer Cell Death & Disease 2018 01 9 2 10.1038/s41419-017-0112-6Daubon Thomas Léon Céline Clarke Kim Andrique Laetitia Salabert Laura Darbo Elodie Pineau Raphael Guérit Sylvaine Maitre Marlène Dedieu Stéphane Jeanne Albin Bailly Sabine Feige Jean-Jacques Miletic Hrvoje Rossi Marco Bello Lorenzo Falciani Francesco Bjerkvig Rolf Bikfalvi Andréas Deciphering the complex role of thrombospondin-1 in glioblastoma development Nature Communications 2019 03 10 1 10.1038/s41467-019-08480-yHaven Carola J. Howell Viive M. Eilers Paul H. C. Dunne Robert Takahashi Masayuki van Puijenbroek Marjo Furge Kyle Kievit Job Tan Min-Han Fleuren Gert Jan Robinson Bruce G. Delbridge Leigh W. Philips Jeanette Nelson Anne E. Krause Ulf Dralle Henning Hoang-Vu Cuong Gimm Oliver Morreau Hans Marsh Deborah J. Teh Bin T. Gene Expression of Parathyroid Tumors Cancer Research 2005 09 7405 7411 64 20 10.1158/0008-5472.can-04-2063Kim Jin-Man Kim Kyunghwan Punj Vasu Liang Gangning Ulmer Tobias S. Lu Wange An Woojin Linker histone H1.2 establishes chromatin compaction and gene silencing through recognition of H3K27me3 Scientific Reports 2015 11 5 1 10.1038/srep16714Forsberg Lars Björck Erik Hashemi Jamileh Zedenius Jan Höög Anders Farnebo Lars-Ove Reimers Mark Larsson Catharina Distinction in gene expression profiles demonstrated in parathyroid adenomas by high-density oligoarray technology European Journal of Endocrinology 2005 03 459 470 152 3 10.1530/eje.1.01864Guenther Matthew G. Levine Stuart S. Boyer Laurie A. Jaenisch Rudolf Young Richard A. A Chromatin Landmark and Transcription Initiation at Most Promoters in Human Cells Cell 2007 07 77 88 130 1 10.1016/j.cell.2007.05.042Chai Young Chae Heejoon Kim Kwangsoo Lee Heonyi Choi Seongmin Lee Kyu Kim Sang Comparative Gene Expression Profiles in Parathyroid Adenoma and Normal Parathyroid Tissue Journal of Clinical Medicine 2019 03 297 8 3 10.3390/jcm8030297Weber Michael Hellmann Ines Stadler Michael B Ramos Liliana Pääbo Svante Rebhan Michael Schübeler Dirk Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome Nature Genetics 2007 03 457 466 39 4 10.1038/ng1990Sulaiman Luqman Juhlin C. Christofer Nilsson Inga-Lena Fotouhi Omid Larsson Catharina Hashemi Jamileh Global and gene-specific promoter methylation analysis in primary hyperparathyroidism Epigenetics 2013 06 646 655 8 6 10.4161/epi.24823Starker Lee F. Svedlund Jessica Udelsman Robert Dralle Henning Åkerström Göran Westin Gunnar Lifton Richard P. Björklund Peyman Carling Tobias The DNA methylome of benign and malignant parathyroid tumors Genes, Chromosomes and Cancer 2011 06 735 745 50 9 10.1002/gcc.20895Bajekal N. Fibroids, infertility and pregnancy wastage Human Reproduction Update 2004 02 614 620 6 6 10.1093/humupd/6.6.614Khalil Hany Tazi Mia Caution Kyle Ahmed Amr Kanneganti Apurva Assani Kaivon Kopp Benjamin Marsh Clay Dakhlallah Duaa Amer Amal O. Aging is associated with hypermethylation of autophagy genes in macrophages Epigenetics 2016 02 381 388 11 5 10.1080/15592294.2016.1144007Björklund Peyman Åkerström Göran Westin Gunnar Accumulation of Nonphosphorylated β-Catenin and c-mycin Primary and Uremic Secondary Hyperparathyroid Tumors The Journal of Clinical Endocrinology & Metabolism 2007 01 338 344 92 1 10.1210/jc.2006-1197Björklund Peyman Lindberg Daniel Åkerström Göran Westin Gunnar Stabilizing mutation of CTNNB1/beta-catenin and protein accumulation analyzed in a large series of parathyroid tumors of Swedish patients Molecular Cancer 2008 06 7 1 10.1186/1476-4598-7-53Westin G. Molecular genetics and epigenetics of nonfamilial (sporadic) parathyroid tumours Journal of Internal Medicine 2016 04 551 558 280 6 10.1111/joim.12458Juhlin C. Christofer Kiss Nimrod B. Villablanca Andrea Haglund Felix Nordenström Jörgen Höög Anders Larsson Catharina Frequent Promoter Hypermethylation of the APC and RASSF1A Tumour Suppressors in Parathyroid Tumours PLoS ONE 2010 03 e9472 5 3 10.1371/journal.pone.0009472Singh Priyanka Bhadada Sanjay Kumar Arya Ashutosh Kumar Saikia Uma Nahar Sachdeva Naresh Dahiya Divya Kaur Jyotdeep Brandi Maria Luisa Rao Sudhaker Dhanwada Aberrant Epigenetic Alteration of PAX1 Expression Contributes to Parathyroid Tumorigenesis The Journal of Clinical Endocrinology & Metabolism 2021 08 e783 e792 107 2 10.1210/clinem/dgab626Starker Lee F. Svedlund Jessica Udelsman Robert Dralle Henning Åkerström Göran Westin Gunnar Lifton Richard P. Björklund Peyman Carling Tobias The DNA methylome of benign and malignant parathyroid tumors Genes, Chromosomes and Cancer 2011 06 735 745 50 9 10.1002/gcc.20895Carling Tobias Du Yong Fang Wei Correa Pamela Huang Shi Intragenic allelic loss and promoter hypermethylation of the RIZ1 tumor suppressor gene in parathyroid tumors and pheochromocytomas Surgery 2003 12 932 939 134 6 10.1016/s0039-6060(03)00422-7

The authors declare that there are no conflicts of interest present.