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Hereditary Adrenal Gland Pheochromocytoma

MedGen UID:
1678364
Concept ID:
C4763508
Neoplastic Process
Synonym: Familial Adrenal Gland Pheochromocytoma

Definition

A hereditary adrenal gland pheochromocytoma caused by mutations in SDHB, SDHC, and SDHD genes. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary Adrenal Gland Pheochromocytoma

Professional guidelines

PubMed

Shah MH, Goldner WS, Benson AB, Bergsland E, Blaszkowsky LS, Brock P, Chan J, Das S, Dickson PV, Fanta P, Giordano T, Halfdanarson TR, Halperin D, He J, Heaney A, Heslin MJ, Kandeel F, Kardan A, Khan SA, Kuvshinoff BW, Lieu C, Miller K, Pillarisetty VG, Reidy D, Salgado SA, Shaheen S, Soares HP, Soulen MC, Strosberg JR, Sussman CR, Trikalinos NA, Uboha NA, Vijayvergia N, Wong T, Lynn B, Hochstetler C
J Natl Compr Canc Netw 2021 Jul 28;19(7):839-868. doi: 10.6004/jnccn.2021.0032. PMID: 34340212
Muth A, Crona J, Gimm O, Elmgren A, Filipsson K, Stenmark Askmalm M, Sandstedt J, Tengvar M, Tham E
J Intern Med 2019 Feb;285(2):187-204. Epub 2019 Jan 15 doi: 10.1111/joim.12869. PMID: 30536464
Reisch N, Peczkowska M, Januszewicz A, Neumann HP
J Hypertens 2006 Dec;24(12):2331-9. doi: 10.1097/01.hjh.0000251887.01885.54. PMID: 17082709

Recent clinical studies

Etiology

Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M
Nat Commun 2023 Feb 28;14(1):1122. doi: 10.1038/s41467-023-36769-6. PMID: 36854674Free PMC Article
Shah MH, Goldner WS, Benson AB, Bergsland E, Blaszkowsky LS, Brock P, Chan J, Das S, Dickson PV, Fanta P, Giordano T, Halfdanarson TR, Halperin D, He J, Heaney A, Heslin MJ, Kandeel F, Kardan A, Khan SA, Kuvshinoff BW, Lieu C, Miller K, Pillarisetty VG, Reidy D, Salgado SA, Shaheen S, Soares HP, Soulen MC, Strosberg JR, Sussman CR, Trikalinos NA, Uboha NA, Vijayvergia N, Wong T, Lynn B, Hochstetler C
J Natl Compr Canc Netw 2021 Jul 28;19(7):839-868. doi: 10.6004/jnccn.2021.0032. PMID: 34340212
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, Gimenez-Roqueplo AP, Eisenhofer G
J Hypertens 2020 Aug;38(8):1443-1456. doi: 10.1097/HJH.0000000000002438. PMID: 32412940Free PMC Article
Taïeb D, Hicks RJ, Hindié E, Guillet BA, Avram A, Ghedini P, Timmers HJ, Scott AT, Elojeimy S, Rubello D, Virgolini IJ, Fanti S, Balogova S, Pandit-Taskar N, Pacak K
Eur J Nucl Med Mol Imaging 2019 Sep;46(10):2112-2137. Epub 2019 Jun 29 doi: 10.1007/s00259-019-04398-1. PMID: 31254038Free 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

Diagnosis

Shah MH, Goldner WS, Benson AB, Bergsland E, Blaszkowsky LS, Brock P, Chan J, Das S, Dickson PV, Fanta P, Giordano T, Halfdanarson TR, Halperin D, He J, Heaney A, Heslin MJ, Kandeel F, Kardan A, Khan SA, Kuvshinoff BW, Lieu C, Miller K, Pillarisetty VG, Reidy D, Salgado SA, Shaheen S, Soares HP, Soulen MC, Strosberg JR, Sussman CR, Trikalinos NA, Uboha NA, Vijayvergia N, Wong T, Lynn B, Hochstetler C
J Natl Compr Canc Netw 2021 Jul 28;19(7):839-868. doi: 10.6004/jnccn.2021.0032. PMID: 34340212
Lenders JWM, Kerstens MN, Amar L, Prejbisz A, Robledo M, Taieb D, Pacak K, Crona J, Zelinka T, Mannelli M, Deutschbein T, Timmers HJLM, Castinetti F, Dralle H, Widimský J, Gimenez-Roqueplo AP, Eisenhofer G
J Hypertens 2020 Aug;38(8):1443-1456. doi: 10.1097/HJH.0000000000002438. PMID: 32412940Free PMC Article
Farrugia FA, Charalampopoulos A
Endocr Regul 2019 Jul 1;53(3):191-212. doi: 10.2478/enr-2019-0020. PMID: 31517632
Muth A, Crona J, Gimm O, Elmgren A, Filipsson K, Stenmark Askmalm M, Sandstedt J, Tengvar M, Tham E
J Intern Med 2019 Feb;285(2):187-204. Epub 2019 Jan 15 doi: 10.1111/joim.12869. PMID: 30536464
Reisch N, Peczkowska M, Januszewicz A, Neumann HP
J Hypertens 2006 Dec;24(12):2331-9. doi: 10.1097/01.hjh.0000251887.01885.54. PMID: 17082709

Therapy

Perysinakis I, Aggeli C, Kaltsas G, Zografos GN
Hormones (Athens) 2020 Sep;19(3):317-327. Epub 2020 May 9 doi: 10.1007/s42000-020-00202-0. PMID: 32388629
Taïeb D, Hicks RJ, Hindié E, Guillet BA, Avram A, Ghedini P, Timmers HJ, Scott AT, Elojeimy S, Rubello D, Virgolini IJ, Fanti S, Balogova S, Pandit-Taskar N, Pacak K
Eur J Nucl Med Mol Imaging 2019 Sep;46(10):2112-2137. Epub 2019 Jun 29 doi: 10.1007/s00259-019-04398-1. PMID: 31254038Free PMC Article
Padmanabhan S, Caulfield M, Dominiczak AF
Circ Res 2015 Mar 13;116(6):937-59. doi: 10.1161/CIRCRESAHA.116.303647. PMID: 25767282
Walther MM
Ann N Y Acad Sci 2002 Sep;970:41-53. doi: 10.1111/j.1749-6632.2002.tb04411.x. PMID: 12381540
Eigelberger MS, Duh QY
Curr Treat Options Oncol 2001 Aug;2(4):321-9. doi: 10.1007/s11864-001-0025-5. PMID: 12057112

Prognosis

Calsina B, Piñeiro-Yáñez E, Martínez-Montes ÁM, Caleiras E, Fernández-Sanromán Á, Monteagudo M, Torres-Pérez R, Fustero-Torre C, Pulgarín-Alfaro M, Gil E, Letón R, Jiménez S, García-Martín S, Martin MC, Roldán-Romero JM, Lanillos J, Mellid S, Santos M, Díaz-Talavera A, Rubio Á, González P, Hernando B, Bechmann N, Dona M, Calatayud M, Guadalix S, Álvarez-Escolá C, Regojo RM, Aller J, Del Olmo-Garcia MI, López-Fernández A, Fliedner SMJ, Rapizzi E, Fassnacht M, Beuschlein F, Quinkler M, Toledo RA, Mannelli M, Timmers HJ, Eisenhofer G, Rodríguez-Perales S, Domínguez O, Macintyre G, Currás-Freixes M, Rodríguez-Antona C, Cascón A, Leandro-García LJ, Montero-Conde C, Roncador G, García-García JF, Pacak K, Al-Shahrour F, Robledo M
Nat Commun 2023 Feb 28;14(1):1122. doi: 10.1038/s41467-023-36769-6. PMID: 36854674Free PMC Article
Juhlin CC
Endocr Pathol 2021 Jun;32(2):228-244. Epub 2021 Mar 25 doi: 10.1007/s12022-021-09675-0. PMID: 33768452Free PMC Article
Kavinga Gunawardane PT, Grossman A
Arch Endocrinol Metab 2017 Oct;61(5):490-500. doi: 10.1590/2359-3997000000299. PMID: 29166454Free PMC Article
Crona J, Taïeb D, Pacak K
Endocr Rev 2017 Dec 1;38(6):489-515. doi: 10.1210/er.2017-00062. PMID: 28938417Free 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

Clinical prediction guides

Fischer A, Kloos S, Maccio U, Friemel J, Remde H, Fassnacht M, Pamporaki C, Eisenhofer G, Timmers HJLM, Robledo M, Fliedner SMJ, Wang K, Maurer J, Reul A, Zitzmann K, Bechmann N, Žygienė G, Richter S, Hantel C, Vetter D, Lehmann K, Mohr H, Pellegata NS, Ullrich M, Pietzsch J, Ziegler CG, Bornstein SR, Kroiss M, Reincke M, Pacak K, Grossman AB, Beuschlein F, Nölting S
J Clin Endocrinol Metab 2023 Sep 18;108(10):2676-2685. doi: 10.1210/clinem/dgad166. PMID: 36946182Free PMC Article
Chung R, O'Shea A, Sweeney AT, Mercaldo ND, McDermott S, Blake MA
AJR Am J Roentgenol 2022 Jul;219(1):97-109. Epub 2022 Jan 26 doi: 10.2214/AJR.21.26918. PMID: 35080458
Crona J, Taïeb D, Pacak K
Endocr Rev 2017 Dec 1;38(6):489-515. doi: 10.1210/er.2017-00062. PMID: 28938417Free 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
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321

Recent systematic reviews

Constantinescu G, Preda C, Constantinescu V, Siepmann T, Bornstein SR, Lenders JWM, Eisenhofer G, Pamporaki C
Front Endocrinol (Lausanne) 2022;13:1021420. Epub 2022 Oct 17 doi: 10.3389/fendo.2022.1021420. PMID: 36325453Free PMC Article
Nagaraja V, Eslick GD, Edirimanne S
Int J Surg 2015 Apr;16(Pt A):7-13. Epub 2015 Feb 11 doi: 10.1016/j.ijsu.2015.01.015. PMID: 25681039

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