Genetics of hereditary forms of primary hyperparathyroidism.
Calcium-sensing receptor
Multiple endocrine neoplasia
PHPT
Parathyroid
Journal
Hormones (Athens, Greece)
ISSN: 2520-8721
Titre abrégé: Hormones (Athens)
Pays: Switzerland
ID NLM: 101142469
Informations de publication
Date de publication:
Mar 2024
Mar 2024
Historique:
received:
04
10
2023
accepted:
07
11
2023
medline:
8
2
2024
pubmed:
1
12
2023
entrez:
1
12
2023
Statut:
ppublish
Résumé
Primary hyperparathyroidism (PHPT), a relatively common disorder characterized by hypercalcemia with raised or inappropriately normal serum parathyroid hormone (PTH) concentrations, may occur as part of a hereditary syndromic disorder or as a non-syndromic disease. The associated syndromic disorders include multiple endocrine neoplasia types 1-5 (MEN1-5) and hyperparathyroidism with jaw tumor (HPT-JT) syndromes, and the non-syndromic forms include familial hypocalciuric hypercalcemia types 1-3 (FHH1-3), familial isolated hyperparathyroidism (FIHP), and neonatal severe hyperparathyroidism (NS-HPT). Such hereditary forms may occur in > 10% of patients with PHPT, and their recognition is important for implementation of gene-specific screening protocols and investigations for other associated tumors. Syndromic PHPT tends to be multifocal and multiglandular with most patients requiring parathyroidectomy with the aim of limiting end-organ damage associated with hypercalcemia, particularly osteoporosis, nephrolithiasis, and renal failure. Some patients with non-syndromic PHPT may have mutations of the MEN1 gene or the calcium-sensing receptor (CASR), whose loss of function mutations usually cause FHH1, a disorder associated with mild hypercalcemia and may follow a benign clinical course. Measurement of the urinary calcium-to-creatinine ratio clearance (UCCR) may help to distinguish patients with FHH from those with PHPT, as the majority of FHH patients have low urinary calcium excretion (UCCR < 0.01). Once genetic testing confirms a hereditary cause of PHPT, further genetic testing can be offered to the patients' relatives and subsequent screening can be carried out in these affected family members, which prevents inappropriate testing in normal individuals.
Identifiants
pubmed: 38038882
doi: 10.1007/s42000-023-00508-9
pii: 10.1007/s42000-023-00508-9
pmc: PMC10847196
doi:
Substances chimiques
Calcium
SY7Q814VUP
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
3-14Subventions
Organisme : Cancer Research UK
ID : C2195/A28699
Pays : United Kingdom
Informations de copyright
© 2023. The Author(s).
Références
Soto-Pedre E, Newey PJ, Leese GP (2023) Stable incidence and increasing prevalence of primary hyperparathyroidism in a population-based study in Scotland. J Clin Endocrinol Metab 108(10):e1117–e1124. https://doi.org/10.1210/clinem/dgad201
doi: 10.1210/clinem/dgad201
pubmed: 37022975
pmcid: 10505547
Press DM, Siperstein AE, Berber E, Shin JJ, Metzger R, Monteiro R, Mino J, Swagel W, Mitchell JC (2013) The prevalence of undiagnosed and unrecognized primary hyperparathyroidism: a population-based analysis from the electronic medical record. Surgery 154(6):1232–7. https://doi.org/10.1016/j.surg.2013.06.051 . (discussion 7-8)
doi: 10.1016/j.surg.2013.06.051
pubmed: 24383100
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML, Endocrine S (2012) Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab 97(9):2990–3011. https://doi.org/10.1210/jc.2012-1230
doi: 10.1210/jc.2012-1230
pubmed: 22723327
Eastell R, Brandi ML, Costa AG, D’Amour P, Shoback DM, Thakker RV (2014) Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. J Clin Endocrinol Metab 99(10):3570–3579. https://doi.org/10.1210/jc.2014-1414
doi: 10.1210/jc.2014-1414
pubmed: 25162666
Bilezikian JP (2018) Primary Hyperparathyroidism. J Clin Endocrinol Metab 103(11):3993–4004. https://doi.org/10.1210/jc.2018-01225
doi: 10.1210/jc.2018-01225
pubmed: 30060226
pmcid: 6182311
Thakker RV (2016) Genetics of parathyroid tumours. J Intern Med 280(6):574–583. https://doi.org/10.1111/joim.12523
doi: 10.1111/joim.12523
pubmed: 27306766
Wermers RA, Khosla S, Atkinson EJ, Achenbach SJ, Oberg AL, Grant CS, Melton LJ 3rd (2006) Incidence of primary hyperparathyroidism in Rochester, Minnesota, 1993–2001: an update on the changing epidemiology of the disease. J Bone Miner Res 21(1):171–177. https://doi.org/10.1359/jbmr.050910
doi: 10.1359/jbmr.050910
pubmed: 16355286
Yeh MW, Ituarte PH, Zhou HC, Nishimoto S, Liu IL, Harari A, Haigh PI, Adams AL (2013) Incidence and prevalence of primary hyperparathyroidism in a racially mixed population. J Clin Endocrinol Metab 98(3):1122–1129. https://doi.org/10.1210/jc.2012-4022
doi: 10.1210/jc.2012-4022
pubmed: 23418315
pmcid: 3590475
Walker MD, Silverberg SJ (2018) Primary hyperparathyroidism. Nat Rev Endocrinol 14(2):115–125. https://doi.org/10.1038/nrendo.2017.104
doi: 10.1038/nrendo.2017.104
pubmed: 28885621
Lemos MC, Thakker RV (2008) Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29(1):22–32. https://doi.org/10.1002/humu.20605
doi: 10.1002/humu.20605
pubmed: 17879353
Hannan FM, Nesbit MA, Christie PT, Fratter C, Dudley NE, Sadler GP, Thakker RV (2008) Familial isolated primary hyperparathyroidism caused by mutations of the MEN1 gene. Nat Clin Pract Endocrinol Metab 4(1):53–58. https://doi.org/10.1038/ncpendmet0718
doi: 10.1038/ncpendmet0718
pubmed: 18084346
Hannan FM, Nesbit MA, Christie PT, Lissens W, Van der Schueren B, Bex M, Bouillon R, Thakker RV (2010) A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia. Clin Endocrinol (Oxf) 73(6):715–722. https://doi.org/10.1111/j.1365-2265.2010.03870.x
doi: 10.1111/j.1365-2265.2010.03870.x
pubmed: 20846291
Halperin R, Arnon L, Nasirov S, Friedensohn L, Gershinsky M, Telerman A, Friedman E, Bernstein-Molho R, Tirosh A (2023) Germline CDKN1B variant type and site are associated with phenotype in MEN4. Endocr Relat Cancer 30(1):e220174. https://doi.org/10.1530/erc-22-0174
doi: 10.1530/erc-22-0174
pubmed: 36256846
Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Albert L, Cano A, Pareja R, Caixàs A, Rigla M (2023) Novel germline variants of CDKN1B and CDKN2C identified during screening for familial primary hyperparathyroidism. J Endocrinol Invest 46(4):829–840. https://doi.org/10.1007/s40618-022-01948-7
doi: 10.1007/s40618-022-01948-7
pubmed: 36334246
Burnichon N, Cascon A, Schiavi F, Morales NP, Comino-Mendez I, Abermil N et al (2012) MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 18(10):2828–2837. https://doi.org/10.1158/1078-0432.CCR-12-0160
doi: 10.1158/1078-0432.CCR-12-0160
pubmed: 22452945
Seabrook AJ, Harris JE, Velosa SB, Kim E, McInerney-Leo AM, Dwight T et al (2021) Multiple endocrine tumors associated with germline MAX mutations: multiple endocrine neoplasia type 5? J Clin Endocrinol Metab 106(4):1163–1182. https://doi.org/10.1210/clinem/dgaa957
doi: 10.1210/clinem/dgaa957
pubmed: 33367756
Roszko KL, Blouch E, Blake M, Powers JF, Tischler AS, Hodin R et al (2017) Case report of a prolactinoma in a patient with a novel MAX mutation and bilateral pheochromocytomas. J Endocr Soc 1(11):1401–1407. https://doi.org/10.1210/js.2017-00135
doi: 10.1210/js.2017-00135
pubmed: 29264463
pmcid: 5686672
Petignot S, Daly AF, Castermans E, Korpershoek E, Scagnol I, Beckers P et al (2020) Pancreatic neuroendocrine neoplasm associated with a familial MAX deletion. Horm Metab Res 52(11):784–787. https://doi.org/10.1055/a-1186-0790
doi: 10.1055/a-1186-0790
pubmed: 32521546
Daly AF, Castermans E, Oudijk L, Guitelman MA, Beckers P, Potorac I et al (2018) Pheochromocytomas and pituitary adenomas in three patients with MAX exon deletions. Endocr Relat Cancer 25(5):L37-l42. https://doi.org/10.1530/erc-18-0065
doi: 10.1530/erc-18-0065
pubmed: 29535143
Charoenngam N, Mannstadt M (2023) Primary hyperparathyroidism in a patient with bilateral pheochromocytoma and a mutation in the tumor suppressor MAX. JCEM Case Rep 1(1). https://doi.org/10.1210/jcemcr/luad006
Kobza AO, Dizon S, Arnaout A (2018) Case report of bilateral pheochromocytomas due to a novel max mutation in a patient known to have a pituitary prolactinoma. AACE Clinical Case Rep 4(6):e453–e456. https://doi.org/10.4158/ACCR-2018-0146
doi: 10.4158/ACCR-2018-0146
Mamedova E, Vasilyev E, Petrov V, Buryakina S, Tiulpakov A, Belaya Z (2021) Familial acromegaly and bilateral asynchronous pheochromocytomas in a female patient with a MAX mutation: a case report. Front Endocrinol (Lausanne) 12:683492. https://doi.org/10.3389/fendo.2021.683492
doi: 10.3389/fendo.2021.683492
pubmed: 34135865
Tora R, Welch J, Sun J, Agarwal SK, Bell DA, Merino M, Weinstein LS, Simonds WF, Jha S (2023) Phenotypic profiling and molecular mechanisms in hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab dgad368. https://doi.org/10.1210/clinem/dgad368
van der Tuin K, Tops CMJ, Adank MA, Cobben J-M, Hamdy NAT, Jongmans MC et al (2017) CDC73-related disorders: clinical manifestations and case detection in primary hyperparathyroidism. J Clin Endocrinol Metab 102(12):4534–4540. https://doi.org/10.1210/jc.2017-01249
doi: 10.1210/jc.2017-01249
pubmed: 29040582
Erickson LA, Mete O, Juhlin CC, Perren A, Gill AJ (2022) Overview of the 2022 WHO classification of parathyroid tumors. Endocrine Pathol 33(1):64–89. https://doi.org/10.1007/s12022-022-09709-1
doi: 10.1007/s12022-022-09709-1
Shattuck TM, Valimaki S, Obara T, Gaz RD, Clark OH, Shoback D, Wierman ME, Tojo K, Robbins CM, Carpten JD, Farnebo LO, Larsson C, Arnold A (2003) Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349(18):1722–1729. https://doi.org/10.1056/NEJMoa031237
doi: 10.1056/NEJMoa031237
pubmed: 14585940
Hannan FM, Nesbit MA, Zhang C, Cranston T, Curley AJ, Harding B, Fratter C, Rust N, Christie PT, Turner JJ, Lemos MC, Bowl MR, Bouillon R, Brain C, Bridges N, Burren C, Connell JM, Jung H, Marks E, McCredie D, Mughal Z, Rodda C, Tollefsen S, Brown EM, Yang JJ, Thakker RV (2012) Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites. Hum Mol Genet 21(12):2768–2778. https://doi.org/10.1093/hmg/dds105
doi: 10.1093/hmg/dds105
pubmed: 22422767
Newey PJ, Bowl MR, Cranston T, Thakker RV (2010) Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat 31(3):295–307. https://doi.org/10.1002/humu.21188
doi: 10.1002/humu.21188
pubmed: 20052758
Bricaire L, Odou MF, Cardot-Bauters C, Delemer B, North MO, Salenave S, Vezzosi D, Kuhn JM, Murat A, Caron P, Sadoul JL, Silve C, Chanson P, Barlier A, Clauser E, Porchet N, Groussin L, GroupGTE (2013) Frequent large germline HRPT2 deletions in a French national cohort of patients with primary hyperparathyroidism. J Clin Endocrinol Metab 98(2):E403-8. https://doi.org/10.1210/jc.2012-2789
doi: 10.1210/jc.2012-2789
pubmed: 23293331
Khosla S, Ebeling PR, Firek AF, Burritt MM, Kao PC, Heath H 3rd (1993) Calcium infusion suggests a “set-point” abnormality of parathyroid gland function in familial benign hypercalcemia and more complex disturbances in primary hyperparathyroidism. J Clin Endocrinol Metab 76(3):715–720. https://doi.org/10.1210/jcem.76.3.8445032
doi: 10.1210/jcem.76.3.8445032
pubmed: 8445032
Singh P, Bhadada SK, Dahiya D, Arya AK, Saikia UN, Sachdeva N, Kaur J, Brandi ML, Rao SD (2020) Reduced calcium sensing receptor (CaSR) expression is epigenetically deregulated in parathyroid adenomas. J Clin Endocrinol Metab 105(9):3015–3024. https://doi.org/10.1210/clinem/dgaa419
doi: 10.1210/clinem/dgaa419
pubmed: 32609827
pmcid: 7500582
Eldeiry LS, Ruan DT, Brown EM, Gaglia JL, Garber JR (2012) Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications. Endocr Pract 18(3):412–417. https://doi.org/10.4158/EP11272.RA
doi: 10.4158/EP11272.RA
pubmed: 22232026
Al-Salameh A, Cadiot G, Calender A, Goudet P, Chanson P (2021) Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol 17(4):207–224. https://doi.org/10.1038/s41574-021-00468-3
doi: 10.1038/s41574-021-00468-3
pubmed: 33564173
Romanet P, Mohamed A, Giraud S, Odou MF, North MO, Pertuit M, Pasmant E, Coppin L, Guien C, Calender A, Borson-Chazot F, Beroud C, Goudet P, Barlier A (2019) UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1676 patients from the French population. J Clin Endocrinol Metab 104(3):753–764. https://doi.org/10.1210/jc.2018-01170
doi: 10.1210/jc.2018-01170
pubmed: 30339208
Machens A, Schaaf L, Karges W, Frank-Raue K, Bartsch DK, Rothmund M, Schneyer U, Goretzki P, Raue F, Dralle H (2007) Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers. Clin Endocrinol (Oxf) 67(4):613–622. https://doi.org/10.1111/j.1365-2265.2007.02934.x
doi: 10.1111/j.1365-2265.2007.02934.x
pubmed: 17590169
Concolino P, Costella A, Capoluongo E (2016) Multiple endocrine neoplasia type 1 (MEN1): an update of 208 new germline variants reported in the last nine years. Cancer Gene 209(1–2):36–41. https://doi.org/10.1016/j.cancergen.2015.12.002
doi: 10.1016/j.cancergen.2015.12.002
Dreijerink KM, Varier RA, van Nuland R, Broekhuizen R, Valk GD, van der Wal JE, Lips CJ, Kummer JA, Timmers HT (2009) Regulation of vitamin D receptor function in MEN1- related parathyroid adenomas. Mol Cell Endocrinol 313(1–2):1–8. https://doi.org/10.1016/j.mce.2009.08.020
doi: 10.1016/j.mce.2009.08.020
pubmed: 19729047
Yuan Z, Sánchez Claros C, Suzuki M, Maggi EC, Kaner JD, Kinstlinger N, Gorecka J, Quinn TJ, Geha R, Corn A, Pastoriza J, Jing Q, Adem A, Wu H, Alemu G, Du YC, Zheng D, Greally JM, Libutti SK (2016) Loss of MEN1 activates DNMT1 implicating DNA hypermethylation as a driver of MEN1 tumorigenesis. Oncotarget 7(11):12633–12650. https://doi.org/10.18632/oncotarget.7279
doi: 10.18632/oncotarget.7279
pubmed: 26871472
pmcid: 4914310
de Laat JM, van der Luijt RB, Pieterman CR, Oostveen MP, Hermus AR, Dekkers OM, de Herder WW, van der Horst-Schrivers AN, Drent ML, Bisschop PH, Havekes B, Vriens MR, Valk GD (2016) MEN1 redefined, a clinical comparison of mutation-positive and mutation- negative patients. BMC Med 14(1):182. https://doi.org/10.1186/s12916-016-0708-1
doi: 10.1186/s12916-016-0708-1
pubmed: 27842554
pmcid: 5109674
Agarwal SK, Mateo CM, Marx SJ (2009) Rare germline mutations in cyclin-dependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab 94(5):1826–1834. https://doi.org/10.1210/jc.2008-2083
doi: 10.1210/jc.2008-2083
pubmed: 19141585
pmcid: 2684477
Kooblall KG, Boon H, Cranston T, Stevenson M, Pagnamenta AT, Rogers A, Grozinsky- Glasberg S, Richardson T, Flanagan DE, Genomics England Research C, Taylor JC, Lines KE, Thakker RV (2021) Multiple endocrine neoplasia type 1 (MEN1) 5′UTR deletion, in MEN1 family, decreases menin expression. J Bone Miner Res 36(1):100–9. https://doi.org/10.1002/jbmr.4156
doi: 10.1002/jbmr.4156
pubmed: 32780883
de Laat JM, van Leeuwaarde RS, Valk GD (2018) The importance of an early and accurate MEN1 diagnosis. Front Endocrinol (Lausanne) 9:533. https://doi.org/10.3389/fendo.2018.00533
doi: 10.3389/fendo.2018.00533
pubmed: 30254610
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U (2022) Multiple endocrine neoplasia type 2: a review. Semin Cancer Biol 79:163–179. https://doi.org/10.1016/j.semcancer.2021.03.035
doi: 10.1016/j.semcancer.2021.03.035
pubmed: 33812987
Raue F, Frank-Raue K (2012) Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics (Sao Paulo) 67(Suppl 1):69–75. https://doi.org/10.6061/clinics/2012(sup01)13
doi: 10.6061/clinics/2012(sup01)13
pubmed: 22584709
Mulligan LM, Eng C, Healey CS, Clayton D, Kwok JBJ, Gardner E, Ponder MA, Frilling A, Jackson CE, Lehnert H, Neumann HPH, Thibodeau SN, Ponder BAJ (1994) Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nature Genet 6(1):70–74. https://doi.org/10.1038/ng0194-70
doi: 10.1038/ng0194-70
pubmed: 7907913
Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjöld M, Komminoth P, Hendy GN, Mulligan LM et al (1996) The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis JAMA 276(19):1575–1579
pubmed: 8918855
Thakker RV (2014) Multiple endocrine neoplasia type 1 (MEN1) and type 4 (MEN4). Mol Cell Endocrinol 386(1–2):2–15. https://doi.org/10.1016/j.mce.2013.08.002
doi: 10.1016/j.mce.2013.08.002
pubmed: 23933118
pmcid: 4082531
Singeisen H, Renzulli MM, Pavlicek V, Probst P, Hauswirth F, Muller MK, Adamczyk M, Weber A, Kaderli RM, Renzulli P (2023) Multiple endocrine neoplasia type 4: a new member of the MEN family. Endocr Connect 12(2):e220411. https://doi.org/10.1530/ec-22-0411
doi: 10.1530/ec-22-0411
pubmed: 36520683
pmcid: 9874964
Fritz A, Walch A, Piotrowska K, Rosemann M, Schäffer E, Weber K, Timper A, Wildner G, Graw J, Höfler H (2002) Recessive transmission of a multiple endocrine neoplasia syndrome in the rat. Cancer Res 62(11):3048–3051
pubmed: 12036912
Pellegata N, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Höfler H, Fend F, Graw J, Atkinson M (2006) Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 103(42):15558-15563. https://doi.org/10.1073/pnas.0603877103
Carroll PA, Freie BW, Mathsyaraja H, Eisenman RN (2018) The MYC transcription factor network: balancing metabolism, proliferation and oncogenesis. Front Med 12(4):412–425. https://doi.org/10.1007/s11684-018-0650-z
doi: 10.1007/s11684-018-0650-z
pubmed: 30054853
pmcid: 7358075
Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, Landa I, Leandro-García LJ, Letón R et al (2011) Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43(7):663–667. https://doi.org/10.1038/ng.861
doi: 10.1038/ng.861
pubmed: 21685915
Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL, Lacroix A, Liberman U, Palermo A, Pepe J, Rizzoli R, Wermers R, Thakker RV (2022) Epidemiology, pathophysiology, and genetics of primary hyperparathyroidism. J Bone Miner Res 37(11):2315–2329. https://doi.org/10.1002/jbmr.4665
doi: 10.1002/jbmr.4665
pubmed: 36245271
Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J et al (2002) HRPT2, encoding parafibromin, is mutated in hyperparathyroidism–jaw tumor syndrome. Nat Genet 32(4):676–680. https://doi.org/10.1038/ng1048
doi: 10.1038/ng1048
pubmed: 12434154
Cavaco BM, Barros L, Pannett AA, Ruas L, Carvalheiro M, Ruas MM, Krausz T, Santos MA, Sobrinho LG, Leite V, Thakker RV (2001) The hyperparathyroidism-jaw tumour syndrome in a Portuguese kindred. QJM 94(4):213–222. https://doi.org/10.1093/qjmed/94.4.213
doi: 10.1093/qjmed/94.4.213
pubmed: 11294964
Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, Mallette LE (1990) Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery 108(6):1006–12 (discussion 12-3)
pubmed: 2123361
Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ, Shanmugam KS, Copeland TD, Guszczynski T, Resau JH, Meyerson M (2005) The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol Cell Biol 25(2):612–620. https://doi.org/10.1128/MCB.25.2.612-620.2005
doi: 10.1128/MCB.25.2.612-620.2005
pubmed: 15632063
pmcid: 543415
Yart A, Gstaiger M, Wirbelauer C, Pecnik M, Anastasiou D, Hess D, Krek W (2005) The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol Cell Biol 25(12):5052–5060. https://doi.org/10.1128/MCB.25.12.5052-5060.2005
doi: 10.1128/MCB.25.12.5052-5060.2005
pubmed: 15923622
pmcid: 1140601
Woodard GE, Lin L, Zhang J-H, Agarwal SK, Marx SJ, Simonds WF (2005) Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Oncogene 24(7):1272–1276. https://doi.org/10.1038/sj.onc.1208274
doi: 10.1038/sj.onc.1208274
pubmed: 15580289
Yang Y-J, Han J-W, Youn H-D, Cho E (2009) The tumor suppressor, parafibromin, mediates histone H3 K9 methylation for cyclin D1 repression. Nucleic Acids Res 38(2):382–390. https://doi.org/10.1093/nar/gkp991
doi: 10.1093/nar/gkp991
pubmed: 19906718
pmcid: 2811029
Lin L, Zhang J-H, Panicker LM, Simonds WF (2008) The parafibromin tumor suppressor protein inhibits cell proliferation by repression of the <i>c-myc</i> proto- oncogene. Proc Natl Acad Sci USA 105(45):17420-5 https://doi.org/10.1073/pnas.0710725105
Bradley KJ, Cavaco BM, Bowl MR, Harding B, Cranston T, Fratter C, Besser GM, Conceicao Pereira M, Davie MW, Dudley N, Leite V, Sadler GP, Seller A, Thakker RV (2006) Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin Endocrinol (Oxf) 64(3):299–306. https://doi.org/10.1111/j.1365-2265.2006.02460.x
doi: 10.1111/j.1365-2265.2006.02460.x
pubmed: 16487440
Weaver TD, Shakir MKM, Hoang TD (2021) Hyperparathyroidism-Jaw Tumor Syndrome. Case Rep Oncol 14(1):29–33. https://doi.org/10.1159/000510002
doi: 10.1159/000510002
pubmed: 33790762
pmcid: 7989853
Frank-Raue K, Leidig-Bruckner G, Haag C, Schulze E, Lorenz A, Schmitz-Winnenthal H, Raue F (2011) Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism. Clin Endocrinol (Oxf) 75(1):50–5. https://doi.org/10.1111/j.1365-2265.2011.04059.x
doi: 10.1111/j.1365-2265.2011.04059.x
pubmed: 21521328
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK (2016) GCM2-activating mutations in familial isolated hyperparathyroidism. Am J Hum Genet 99(5):1034–1044. https://doi.org/10.1016/j.ajhg.2016.08.018
doi: 10.1016/j.ajhg.2016.08.018
pubmed: 27745835
pmcid: 5097944
Guan B, Welch JM, Vemulapalli M, Li Y, Ling H, Kebebew E, Simonds WF, Marx SJ, Agarwal SK (2017) Ethnicity of patients with germline GCM2-activating variants and primary hyperparathyroidism. J Endocr Soc 1(5):488–499. https://doi.org/10.1210/js.2017-00043
doi: 10.1210/js.2017-00043
pubmed: 29264504
pmcid: 5686704
Gunther T, Chen ZF, Kim J, Priemel M, Rueger JM, Amling M, Moseley JM, Martin TJ, Anderson DJ, Karsenty G (2000) Genetic ablation of parathyroid glands reveals another source of parathyroid hormone. Nature 406(6792):199–203. https://doi.org/10.1038/35018111
doi: 10.1038/35018111
pubmed: 10910362
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y et al (2021) Five patients with disorders of calcium metabolism presented with GCM2 gene variants. Sci Rep 11(1):2968. https://doi.org/10.1038/s41598-021-82661-y
doi: 10.1038/s41598-021-82661-y
pubmed: 33536578
pmcid: 7859196
Riccardi A, Aspir T, Shen L, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Parham K, Carling T, Costa-Guda J, Arnold A (2019) Analysis of activating GCM2 sequence variants in sporadic parathyroid adenomas. J Clin Endocrinol Metab 104(6):1948–1952. https://doi.org/10.1210/jc.2018-02517
doi: 10.1210/jc.2018-02517
pubmed: 30624640
Vincze S, Peters NV, Kuo CL, Brown TC, Korah R, Murtha TD, Bellizzi J, Riccardi A, Parham K, Carling T, Costa-Guda J, Arnold A (2022) GCM2 variants in familial and multiglandular primary hyperparathyroidism. J Clin Endocrinol Metab 107(5):e2021–e2026. https://doi.org/10.1210/clinem/dgab929
doi: 10.1210/clinem/dgab929
pubmed: 34967908
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE, Regeneron Genetics C (2020) Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population. Am J Hum Genet 106(6):734–747. https://doi.org/10.1016/j.ajhg.2020.04.006
doi: 10.1016/j.ajhg.2020.04.006
pubmed: 32386559
pmcid: 7273533
Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N, Hobbs MR, Heath H 3rd, Thakker RV (2013) Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia. N Engl J Med 368(26):2476–2486. https://doi.org/10.1056/NEJMoa1300253
doi: 10.1056/NEJMoa1300253
pubmed: 23802516
pmcid: 3773604
Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV (2013) Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet 45(1):93–97. https://doi.org/10.1038/ng.2492
doi: 10.1038/ng.2492
pubmed: 23222959
Conigrave AD, Ward DT (2013) Calcium-sensing receptor (CaSR): pharmacological properties and signaling pathways. Best Pract Res Clin Endocrinol Metab 27(3):315–331. https://doi.org/10.1016/j.beem.2013.05.010
doi: 10.1016/j.beem.2013.05.010
pubmed: 23856262
Gorvin CM, Rogers A, Hastoy B, Tarasov AI, Frost M, Sposini S, Inoue A, Whyte MP, Rorsman P, Hanyaloglu AC, Breitwieser GE, Thakker RV (2018) AP2sigma mutations impair calcium-sensing receptor trafficking and signaling, and show an endosomal pathway to spatially direct G-protein selectivity. Cell Rep 22(4):1054–1066. https://doi.org/10.1016/j.celrep.2017.12.089
doi: 10.1016/j.celrep.2017.12.089
pubmed: 29420171
pmcid: 5792449
Lee JY, Shoback DM (2018) Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab 32(5):609–619. https://doi.org/10.1016/j.beem.2018.05.004
doi: 10.1016/j.beem.2018.05.004
pubmed: 30449544
pmcid: 6767927
Hannan FM, Babinsky VN, Thakker RV (2016) Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis. J Mol Endocrinol 57(3):R127–R142. https://doi.org/10.1530/JME-16-0124
doi: 10.1530/JME-16-0124
pubmed: 27647839
pmcid: 5064759
Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV (2016) A G-protein subunit-α11 loss-of-function mutation, Thr54Met, causes familial hypocalciuric hypercalcemia Type 2 (FHH2). J Bone Miner Res 31(6):1200–1206. https://doi.org/10.1002/jbmr.2778
doi: 10.1002/jbmr.2778
pubmed: 26729423
Gorvin CM, Hannan FM, Cranston T, Valta H, Makitie O, Schalin-Jantti C, Thakker RV (2018) Cinacalcet rectifies hypercalcemia in a patient with familial hypocalciuric hypercalcemia type 2 (FHH2) caused by a germline loss-of-function Gα11 mutation. J Bone Miner Res 33(1):32–41. https://doi.org/10.1002/jbmr.3241
doi: 10.1002/jbmr.3241
pubmed: 28833550
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV (2023) GNA11 variants identified in patients with hypercalcemia or hypocalcemia. J Bone Miner Res 38(6):907–917. https://doi.org/10.1002/jbmr.4803
doi: 10.1002/jbmr.4803
pubmed: 36970776
Gorvin CM, Metpally R, Stokes VJ, Hannan FM, Krishnamurthy SB, Overton JD, Reid JG, Breitwieser GE, Thakker RV (2018) Large-scale exome datasets reveal a new class of adaptor-related protein complex 2 sigma subunit (AP2sigma) mutations, located at the interface with the AP2 alpha subunit, that impair calcium-sensing receptor signalling. Hum Mol Genet 27(5):901–911. https://doi.org/10.1093/hmg/ddy010
doi: 10.1093/hmg/ddy010
pubmed: 29325022
pmcid: 5982735
Hannan FM, Thakker RV (2013) Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism. Best Pract Res Clin Endocrinol Metab 27(3):359–371. https://doi.org/10.1016/j.beem.2013.04.007
doi: 10.1016/j.beem.2013.04.007
pubmed: 23856265
Marx SJ (2017) Calcimimetic use in familial hypocalciuric hypercalcemia—a perspective in endocrinology. J Clin Endocrinol Metab 102(11):3933–3936. https://doi.org/10.1210/jc.2017-01606
doi: 10.1210/jc.2017-01606
pubmed: 28945857
pmcid: 5673268
Howles SA, Hannan FM, Babinsky VN, Rogers A, Gorvin CM, Rust N, Richardson T, McKenna MJ, Nesbit MA, Thakker RV (2016) Cinacalcet for symptomatic hypercalcemia caused by AP2S1 mutations. New Engl J Med 374(14):1396–1398. https://doi.org/10.1056/NEJMc1511646
doi: 10.1056/NEJMc1511646
pubmed: 27050234
Gannon AW, Monk HM, Levine MA (2014) Cinacalcet monotherapy in neonatal severe hyperparathyroidism: a case study and review. J Clin Endocrinol Metab 99(1):7–11. https://doi.org/10.1210/jc.2013-2834
doi: 10.1210/jc.2013-2834
pubmed: 24203066
Reh CM, Hendy GN, Cole DE, Jeandron DD (2011) Neonatal hyperparathyroidism with a heterozygous calcium-sensing receptor (CASR) R185Q mutation: clinical benefit from cinacalcet. J Clin Endocrinol Metab 96(4):E707–E712. https://doi.org/10.1210/jc.2010-1306
doi: 10.1210/jc.2010-1306
pubmed: 21289269
Fisher MM, Cabrera SM, Imel EA (2015) Successful treatment of neonatal severe hyperparathyroidism with cinacalcet in two patients. Endocrinol Diabetes Metab Case Rep 2015:150040. https://doi.org/10.1530/EDM-15-0040
doi: 10.1530/EDM-15-0040
pubmed: 26161261
pmcid: 4496565
Wilhelm-Bals A, Parvex P, Magdelaine C, Girardin E (2012) Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism. Pediatrics 129(3):e812–e816. https://doi.org/10.1542/peds.2011-0128
doi: 10.1542/peds.2011-0128
pubmed: 22331334
Gulcan-Kersin S, Kirkgoz T, Eltan M, Rzayev T, Ata P, Bilgen H, Ozek E, Bereket A, Turan S (2020) Cinacalcet as a first-line treatment in neonatal severe hyperparathyroidism secondary to calcium sensing receptor (CaSR) mutation. Horm Res Paediatr 93(5):313–321. https://doi.org/10.1159/000510623
doi: 10.1159/000510623
pubmed: 33147586
Gupta P, Tak SA, S AV, Misgar RA, Agarwala S, Jain V, Sharma R (2022) A case of neonatal severe hyperparathyroidism: challenges in management. Indian J Pediatr 89(10):1025-7 https://doi.org/10.1007/s12098-022-04169-1
Sadacharan D, Mahadevan S, Rao SS, Kumar AP, Swathi S, Kumar S, Kannan S (2020) Neonatal severe primary hyperparathyroidism: a series of four cases and their long-term management in India. Indian J Endocrinol Metab 24(2):196–201. https://doi.org/10.4103/ijem.IJEM_53_20
doi: 10.4103/ijem.IJEM_53_20
pubmed: 32699790
pmcid: 7333741
Özgüç Çömlek F, Demir S, Gürkan H, İnan M, Sezer A, Dilek E, Kökenli F (2022) The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene. Pediatr Endocrinol Diabetes Metab 28(2):168–174. https://doi.org/10.5114/pedm.2022.115070
doi: 10.5114/pedm.2022.115070
pubmed: 35399047
Leunbach TL, Hansen AT, Madsen M, Cipliene R, Christensen PS, Schou AJ (2021) A novel case of neonatal severe hyperparathyroidism successfully treated with a type II calcimimetic drug. Bone Rep 14:100761. https://doi.org/10.1016/j.bonr.2021.100761
doi: 10.1016/j.bonr.2021.100761
pubmed: 33748353
pmcid: 7972953
Capozza M, Chinellato I, Guarnieri V, Di Lorgi N, Accadia M, Traggiai C, Mattioli G, Di Mauro A, Laforgia N (2018) Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation. BMC Pediatr 18(1):340. https://doi.org/10.1186/s12887-018-1319-0
doi: 10.1186/s12887-018-1319-0
pubmed: 30376845
pmcid: 6208175
Haider A, Sommayya A, Chaudhary S, Qadir M, Anjum MN, Saeed A et al (2021) Lack of Cinacalcet response in Neonatal Severe Hyperparathyroidism (NSHPT) due to homozygous CASR mutation. Horm Res Paediatr 94(Suppl. 1):1–445. https://doi.org/10.1159/000518849
doi: 10.1159/000518849
Bilezikian JP, Khan AA, Clarke BL, Mannstadt M, Potts JT, Brandi ML (2022) The Fifth International Workshop on the Evaluation and Management of Primary Hyperparathyroidism. J Bone Miner Res 37(11):2290–2292. https://doi.org/10.1002/jbmr.4670
doi: 10.1002/jbmr.4670
pubmed: 36245277
Giusti F, Cianferotti L, Gronchi G, Cioppi F, Masi L, Faggiano A, Colao A, Ferolla P, Brandi ML (2016) Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to multiple endocrine neoplasia syndrome type 1 (MEN1). Endocrine 52(3):495–506. https://doi.org/10.1007/s12020-015-0696-5
doi: 10.1007/s12020-015-0696-5
pubmed: 26224587
Moyes VJ, Monson JP, Chew SL, Akker SA (2010) Clinical use of cinacalcet in MEN1 hyperparathyroidism. Int J Endocrinol 2010:906163. https://doi.org/10.1155/2010/906163
doi: 10.1155/2010/906163
pubmed: 20585352
pmcid: 2877200
Falchetti A, Cilotti A, Vaggelli L, Masi L, Amedei A, Cioppi F, Tonelli F, Brandi ML (2008) A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol Metab 4(6):351–357. https://doi.org/10.1038/ncpendmet0816
doi: 10.1038/ncpendmet0816
pubmed: 18414463
Larsen LV, Mirebeau-Prunier D, Imai T, Alvarez-Escola C, Hasse-Lazar K, Censi S et al (2020) Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study. Endocr Connect 9(6):489–497. https://doi.org/10.1530/ec-20-0163
doi: 10.1530/ec-20-0163
pubmed: 32375120
pmcid: 7354718
Mariathasan S, Andrews KA, Thompson E, Challis BG, Wilcox S, Pierce H et al (2020) Genetic testing for hereditary hyperparathyroidism and familial hypocalciuric hypercalcaemia in a large UK cohort. Clin Endocrinol (Oxf) 93(4):409–418. https://doi.org/10.1111/cen.14254
doi: 10.1111/cen.14254
pubmed: 32430905