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Pheochromocytoma, susceptibility to

MedGen UID:
461061
Concept ID:
C3149711
Finding
Synonym: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO
 
OMIM®: 154950; 171300; 613403

Professional guidelines

PubMed

Armaiz-Pena G, Flores SK, Cheng ZM, Zhang X, Esquivel E, Poullard N, Vaidyanathan A, Liu Q, Michalek J, Santillan-Gomez AA, Liss M, Ahmadi S, Katselnik D, Maldonado E, Salgado SA, Jimenez C, Fishbein L, Hamidi O, Else T, Lechan R, Tischler AS, Benn DE, Dwight T, Clifton-Bligh R, Sanso G, Barontini M, Vincent D, Aronin N, Biondi B, Koops M, Bowhay-Carnes E, Gimenez-Roqueplo AP, Alvarez-Eslava A, Bruder JM, Kitano M, Burnichon N, Ding Y, Dahia PLM
J Clin Endocrinol Metab 2021 Jan 1;106(1):e350-e364. doi: 10.1210/clinem/dgaa741. PMID: 33051659Free PMC Article
Cascón A, López-Jiménez E, Landa I, Leskelä S, Leandro-García LJ, Maliszewska A, Letón R, de la Vega L, García-Barcina MJ, Sanabria C, Alvarez-Escolá C, Rodríguez-Antona C, Robledo M
Horm Metab Res 2009 Sep;41(9):672-5. Epub 2009 Apr 2 doi: 10.1055/s-0029-1202814. PMID: 19343621

Recent clinical studies

Etiology

Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L
Eur J Med Genet 2022 Aug;65(8):104538. Epub 2022 Jun 13 doi: 10.1016/j.ejmg.2022.104538. PMID: 35709961
Nölting S, Bechmann N, Taieb D, Beuschlein F, Fassnacht M, Kroiss M, Eisenhofer G, Grossman A, Pacak K
Endocr Rev 2022 Mar 9;43(2):199-239. doi: 10.1210/endrev/bnab019. PMID: 34147030Free PMC Article
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
Jain A, Baracco R, Kapur G
Pediatr Nephrol 2020 Apr;35(4):581-594. Epub 2019 Jan 2 doi: 10.1007/s00467-018-4181-2. PMID: 30603807
Gunawardane PTK, Grossman A
Adv Exp Med Biol 2017;956:239-259. doi: 10.1007/5584_2016_76. PMID: 27888488

Diagnosis

Nölting S, Bechmann N, Taieb D, Beuschlein F, Fassnacht M, Kroiss M, Eisenhofer G, Grossman A, Pacak K
Endocr Rev 2022 Mar 9;43(2):199-239. doi: 10.1210/endrev/bnab019. PMID: 34147030Free PMC Article
Carrasquillo JA, Chen CC, Jha A, Ling A, Lin FI, Pryma DA, Pacak K
J Nucl Med 2021 Aug 1;62(8):1033-1042. doi: 10.2967/jnumed.120.259689. PMID: 34330739Free PMC Article
Moon JK, Mattei P
Semin Pediatr Surg 2020 Jun;29(3):150926. Epub 2020 May 28 doi: 10.1016/j.sempedsurg.2020.150926. PMID: 32571511
Farrugia FA, Charalampopoulos A
Endocr Regul 2019 Jul 1;53(3):191-212. doi: 10.2478/enr-2019-0020. PMID: 31517632
Gunawardane PTK, Grossman A
Adv Exp Med Biol 2017;956:239-259. doi: 10.1007/5584_2016_76. PMID: 27888488

Therapy

Lewis MA
Curr Treat Options Oncol 2020 Apr 30;21(6):50. doi: 10.1007/s11864-020-00749-5. PMID: 32350690
Corssmit EPM, Snel M, Kapiteijn E
Curr Opin Oncol 2020 Jan;32(1):20-26. doi: 10.1097/CCO.0000000000000589. PMID: 31599769
Padmanabhan S, Caulfield M, Dominiczak AF
Circ Res 2015 Mar 13;116(6):937-59. doi: 10.1161/CIRCRESAHA.116.303647. PMID: 25767282
Capodimonti S, Teofili L, Martini M, Cenci T, Iachininoto MG, Nuzzolo ER, Bianchi M, Murdolo M, Leone G, Larocca LM
J Clin Oncol 2012 May 1;30(13):e137-9. Epub 2012 Mar 5 doi: 10.1200/JCO.2011.38.6797. PMID: 22393103
Fernández-Cruz L, Puig-Domingo M, Halperin I, Sesmilo G
Scand J Surg 2004;93(4):302-9. doi: 10.1177/145749690409300409. PMID: 15658672

Prognosis

Nölting S, Bechmann N, Taieb D, Beuschlein F, Fassnacht M, Kroiss M, Eisenhofer G, Grossman A, Pacak K
Endocr Rev 2022 Mar 9;43(2):199-239. doi: 10.1210/endrev/bnab019. PMID: 34147030Free PMC Article
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U
Semin Cancer Biol 2022 Feb;79:163-179. Epub 2021 Apr 1 doi: 10.1016/j.semcancer.2021.03.035. PMID: 33812987
Gunawardane PTK, Grossman A
Adv Exp Med Biol 2017;956:239-259. doi: 10.1007/5584_2016_76. PMID: 27888488
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Safo AO, Pambuccian SE
Arch Pathol Lab Med 2010 Jul;134(7):1080-3. doi: 10.5858/2009-0172-RS.1. PMID: 20586642

Clinical prediction guides

Buckley M, Terwagne C, Ganner A, Cubitt L, Brewer R, Kim DK, Kajba CM, Forrester N, Dace P, De Jonghe J, Shepherd STC, Sawyer C, McEwen M, Diederichs S, Neumann-Haefelin E, Turajlic S, Ivakine EA, Findlay GM
Nat Genet 2024 Jul;56(7):1446-1455. Epub 2024 Jul 5 doi: 10.1038/s41588-024-01800-z. PMID: 38969834Free PMC Article
Kluckova K, Tennant DA
Cell Tissue Res 2018 May;372(2):367-378. Epub 2018 Feb 15 doi: 10.1007/s00441-018-2801-6. PMID: 29450727Free PMC Article
Andrews KA, Ascher DB, Pires DEV, Barnes DR, Vialard L, Casey RT, Bradshaw N, Adlard J, Aylwin S, Brennan P, Brewer C, Cole T, Cook JA, Davidson R, Donaldson A, Fryer A, Greenhalgh L, Hodgson SV, Irving R, Lalloo F, McConachie M, McConnell VPM, Morrison PJ, Murday V, Park SM, Simpson HL, Snape K, Stewart S, Tomkins SE, Wallis Y, Izatt L, Goudie D, Lindsay RS, Perry CG, Woodward ER, Antoniou AC, Maher ER
J Med Genet 2018 Jun;55(6):384-394. Epub 2018 Jan 31 doi: 10.1136/jmedgenet-2017-105127. PMID: 29386252Free PMC Article
Bausch B, Schiavi F, Ni Y, Welander J, Patocs A, Ngeow J, Wellner U, Malinoc A, Taschin E, Barbon G, Lanza V, Söderkvist P, Stenman A, Larsson C, Svahn F, Chen JL, Marquard J, Fraenkel M, Walter MA, Peczkowska M, Prejbisz A, Jarzab B, Hasse-Lazar K, Petersenn S, Moeller LC, Meyer A, Reisch N, Trupka A, Brase C, Galiano M, Preuss SF, Kwok P, Lendvai N, Berisha G, Makay Ö, Boedeker CC, Weryha G, Racz K, Januszewicz A, Walz MK, Gimm O, Opocher G, Eng C, Neumann HPH; European-American-Asian Pheochromocytoma-Paraganglioma Registry Study Group
JAMA Oncol 2017 Sep 1;3(9):1204-1212. doi: 10.1001/jamaoncol.2017.0223. PMID: 28384794Free PMC Article
Gunawardane PTK, Grossman A
Adv Exp Med Biol 2017;956:239-259. doi: 10.1007/5584_2016_76. PMID: 27888488

Recent systematic reviews

Davidoff DF, De Abreu Lourenco R, Tsang VHM, Benn DE, Clifton-Bligh RJ
J Clin Endocrinol Metab 2024 Aug 13;109(9):2400-2410. doi: 10.1210/clinem/dgae233. PMID: 38605204Free PMC Article
Zhang ZW, Guo X, Qi XP
Endocr Metab Immune Disord Drug Targets 2021;21(3):534-543. doi: 10.2174/1871530320666200910112230. PMID: 32914730

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