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Familial Adrenal Gland Pheochromocytoma

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

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial 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
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
Farrugia FA, Martikos G, Tzanetis P, Charalampopoulos A, Misiakos E, Zavras N, Sotiropoulos D
Endocr Regul 2017 Jul 1;51(3):168-181. doi: 10.1515/enr-2017-0018. PMID: 28858847

Recent clinical studies

Etiology

Corral de la Calle MA, Encinas de la Iglesia J, Fernández-Pérez GC, Repollés Cobaleda M, Fraino A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002. PMID: 36030082
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
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
Farrugia FA, Martikos G, Tzanetis P, Charalampopoulos A, Misiakos E, Zavras N, Sotiropoulos D
Endocr Regul 2017 Jul 1;51(3):168-181. doi: 10.1515/enr-2017-0018. PMID: 28858847
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

Corral de la Calle MA, Encinas de la Iglesia J, Fernández-Pérez GC, Repollés Cobaleda M, Fraino A
Radiologia (Engl Ed) 2022 Jul-Aug;64(4):348-367. doi: 10.1016/j.rxeng.2022.07.002. PMID: 36030082
Buffet A, Burnichon N, Favier J, Gimenez-Roqueplo AP
Best Pract Res Clin Endocrinol Metab 2020 Mar;34(2):101416. Epub 2020 Mar 10 doi: 10.1016/j.beem.2020.101416. PMID: 32295730
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
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
Farrugia FA, Martikos G, Tzanetis P, Charalampopoulos A, Misiakos E, Zavras N, Sotiropoulos D
Endocr Regul 2017 Jul 1;51(3):168-181. doi: 10.1515/enr-2017-0018. PMID: 28858847

Therapy

Iglesias P, Santacruz E, García-Sancho P, Marengo AP, Guerrero-Pérez F, Pian H, Fajardo C, Villabona C, Díez JJ
Rev Clin Esp (Barc) 2021 Jan;221(1):18-25. Epub 2020 Nov 25 doi: 10.1016/j.rceng.2019.12.011. PMID: 33998473
Farrugia FA, Martikos G, Tzanetis P, Charalampopoulos A, Misiakos E, Zavras N, Sotiropoulos D
Endocr Regul 2017 Jul 1;51(3):168-181. doi: 10.1515/enr-2017-0018. PMID: 28858847
Sisson JC, Yanik GA
Semin Nucl Med 2012 May;42(3):171-84. doi: 10.1053/j.semnuclmed.2011.11.004. PMID: 22475426
Yeo H, Roman S
Curr Opin Oncol 2005 Jan;17(1):13-8. doi: 10.1097/01.cco.0000147900.12325.d9. PMID: 15608506
Ram CV, Engelman K
Curr Probl Cardiol 1979 Apr;4(1):1-37. doi: 10.1016/s0146-2806(79)80003-1. PMID: 42512

Prognosis

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
Kavinga Gunawardane PT, Grossman A
Arch Endocrinol Metab 2017 Oct;61(5):490-500. doi: 10.1590/2359-3997000000299. PMID: 29166454Free 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
Bissada MA, Safwat AS, Seyam RM, Al Sobhi S, Hanash KA, Bissada NK
Urol Oncol 2008 Jul-Aug;26(4):361-3. Epub 2007 Dec 21 doi: 10.1016/j.urolonc.2007.03.025. PMID: 18367101
Ram CV, Engelman K
Curr Probl Cardiol 1979 Apr;4(1):1-37. doi: 10.1016/s0146-2806(79)80003-1. PMID: 42512

Clinical prediction guides

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
Dhir M, Li W, Hogg ME, Bartlett DL, Carty SE, McCoy KL, Challinor SM, Yip L
Ann Surg Oncol 2017 Nov;24(12):3624-3630. Epub 2017 Sep 7 doi: 10.1245/s10434-017-6074-1. PMID: 28884434
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
Karasek D, Shah U, Frysak Z, Stratakis C, Pacak K
J Hum Hypertens 2013 Mar;27(3):141-7. Epub 2012 May 31 doi: 10.1038/jhh.2012.20. PMID: 22648268Free PMC Article
Irvin GL 3rd, Fishman LM, Sher JA
Surgery 1983 Dec;94(6):938-40. PMID: 6648808

Recent systematic reviews

Rowe NE, Kumar R, Schieda N, Siddiqi F, McGregor T, McAlpine K, Violette P, Bathini V, Eng M, Izard J
J Urol 2023 Oct;210(4):590-599. Epub 2023 Aug 9 doi: 10.1097/JU.0000000000003644. PMID: 37556768
Loh HH, Yee A, Loh HS, Sukor N, Kamaruddin NA
Minerva Endocrinol 2017 Mar;42(1):77-87. Epub 2015 Dec 23 doi: 10.23736/S0391-1977.16.02394-4. PMID: 26698544
Wing LA, Conaglen JV, Meyer-Rochow GY, Elston MS
J Clin Endocrinol Metab 2015 Aug;100(8):3202-9. Epub 2015 Jun 17 doi: 10.1210/jc.2015-2122. PMID: 26083822
Rufini V, Treglia G, Castaldi P, Perotti G, Giordano A
Q J Nucl Med Mol Imaging 2013 Jun;57(2):122-33. PMID: 23822989

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