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Carney-Stratakis syndrome

MedGen UID:
376098
Concept ID:
C1847319
Disease or Syndrome
Synonyms: Carney dyad; Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma; Paraganglioma and gastric stromal sarcoma; Paraganglioma and gastrointestinal stromal tumor; Paraganglioma and GIST; SDHB-Related Paraganglioma and Gastric Stromal Sarcoma; SDHC-Related Paraganglioma and Gastric Stromal Sarcoma; SDHD-Related Paraganglioma and Gastric Stromal Sarcoma
SNOMED CT: Carney Stratakis syndrome (722377004); Paraganglioma and gastric stromal sarcoma syndrome (722377004); Carney Stratakis dyad (722377004)
 
Genes (locations): SDHB (1p36.13); SDHC (1q23.3); SDHD (11q23.1)
 
Monarch Initiative: MONDO:0011740
OMIM®: 606864
Orphanet: ORPHA97286

Definition

A familial syndrome characterized by gastrointestinal stromal tumors and paragangliomas, often at multiple sites. It is a very rare syndrome presenting at a young age. The gastric stromal sarcomas are multifocal and the paragangliomas are multicentric. The clinical spectrum of this syndrome varies widely, depending on the localization and the size of the tumors. The vast majority of cases are due to germline mutations of the succinate dehydrogenase (SDH) subunit genes SDHB, SDHC and SDHD. Predisposition to developing these tumors is inherited in an autosomal dominant manner with incomplete penetrance. [from SNOMEDCT_US]

Clinical features

From HPO
Neoplasm of the gastrointestinal tract
MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
A benign or malignant neoplasm involving any part of the digestive system.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Neoplasm of the gastrointestinal tract
MedGen UID:
4846
Concept ID:
C0017185
Neoplastic Process
A benign or malignant neoplasm involving any part of the digestive system.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.
Paraganglioma
MedGen UID:
10571
Concept ID:
C0030421
Neoplastic Process
A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCarney-Stratakis syndrome
Follow this link to review classifications for Carney-Stratakis syndrome in Orphanet.

Recent clinical studies

Etiology

Mei L, Smith SC, Faber AC, Trent J, Grossman SR, Stratakis CA, Boikos SA
Trends Cancer 2018 Jan;4(1):74-91. Epub 2017 Dec 23 doi: 10.1016/j.trecan.2017.11.006. PMID: 29413424
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Mason EF, Hornick JL
Am J Surg Pathol 2016 Dec;40(12):1616-1621. doi: 10.1097/PAS.0000000000000685. PMID: 27340750
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Tirumani SH, Tirumani H, Jagannathan JP, Shinagare AB, Hornick JL, George S, Wagner AJ, Ramaiya NH
Br J Radiol 2014 Nov;87(1043):20140476. Epub 2014 Sep 5 doi: 10.1259/bjr.20140476. PMID: 25189191Free PMC Article

Diagnosis

Khurana A, Mei L, Faber AC, Smith SC, Boikos SA
Horm Metab Res 2019 Jul;51(7):437-442. Epub 2019 Jun 7 doi: 10.1055/a-0918-8340. PMID: 31174229
Nicholas RS, Quddus A, Topham C, Baker D
BMJ Case Rep 2015 Apr 16;2015 doi: 10.1136/bcr-2014-208271. PMID: 25883251Free PMC Article
Tenorio Jiménez C, Izatt L, Chang F, Moonim MT, Carroll PV, McGowan BM
Endocr Pathol 2012 Sep;23(3):181-6. doi: 10.1007/s12022-012-9213-z. PMID: 22638655
Vaughan P, Pabla L, Hobin D, Barron DJ, Parikh D
Ann Thorac Surg 2011 Nov;92(5):1877-8. Epub 2011 Oct 31 doi: 10.1016/j.athoracsur.2011.03.123. PMID: 22051283
Alrashdi I, Bano G, Maher ER, Hodgson SV
Fam Cancer 2010 Sep;9(3):443-7. doi: 10.1007/s10689-010-9323-z. PMID: 20119652

Therapy

Gasparotto D, Rossi S, Campagna D, Scavina P, Tiziano FD, Marzotto A, Toffolatti L, Vitelli CE, Amini M, Dei Tos AP, Maestro R
J Clin Oncol 2016 Apr 10;34(11):e99-e103. Epub 2014 Dec 29 doi: 10.1200/JCO.2012.44.7300. PMID: 25547508
Maki RG, Blay JY, Demetri GD, Fletcher JA, Joensuu H, Martín-Broto J, Nishida T, Reichardt P, Schöffski P, Trent JC
Oncologist 2015 Jul;20(7):823-30. Epub 2015 Jun 12 doi: 10.1634/theoncologist.2014-0471. PMID: 26070915Free PMC Article
Wang YM, Gu ML, Ji F
World J Gastroenterol 2015 Feb 28;21(8):2303-14. doi: 10.3748/wjg.v21.i8.2303. PMID: 25741136Free PMC Article
Zovak M, Boban M, Boban L, Cicek S, Madzar Z, Belev B, Tomas D
Int J Surg 2014 Nov;12(11):1167-71. Epub 2014 Aug 1 doi: 10.1016/j.ijsu.2014.07.275. PMID: 25091396
Pasini B, McWhinney SR, Bei T, Matyakhina L, Stergiopoulos S, Muchow M, Boikos SA, Ferrando B, Pacak K, Assie G, Baudin E, Chompret A, Ellison JW, Briere JJ, Rustin P, Gimenez-Roqueplo AP, Eng C, Carney JA, Stratakis CA
Eur J Hum Genet 2008 Jan;16(1):79-88. Epub 2007 Aug 1 doi: 10.1038/sj.ejhg.5201904. PMID: 17667967

Prognosis

Ibrahim A, Chopra S
Arch Pathol Lab Med 2020 May;144(5):655-660. Epub 2019 Jun 6 doi: 10.5858/arpa.2018-0370-RS. PMID: 31169996
Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Mason EF, Hornick JL
Am J Surg Pathol 2016 Dec;40(12):1616-1621. doi: 10.1097/PAS.0000000000000685. PMID: 27340750
Ghigna MR, Dorfmuller P, Crutu A, Fadel E, de Montpréville VT
Endocr Pathol 2016 Dec;27(4):332-337. doi: 10.1007/s12022-016-9422-y. PMID: 26895210
Tirumani SH, Tirumani H, Jagannathan JP, Shinagare AB, Hornick JL, George S, Wagner AJ, Ramaiya NH
Br J Radiol 2014 Nov;87(1043):20140476. Epub 2014 Sep 5 doi: 10.1259/bjr.20140476. PMID: 25189191Free PMC Article

Clinical prediction guides

Wada R, Arai H, Kure S, Peng WX, Naito Z
Pathol Int 2016 Aug;66(8):431-7. Epub 2016 Jul 18 doi: 10.1111/pin.12431. PMID: 27427238
Mason EF, Hornick JL
Am J Surg Pathol 2016 Dec;40(12):1616-1621. doi: 10.1097/PAS.0000000000000685. PMID: 27340750
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Zovak M, Boban M, Boban L, Cicek S, Madzar Z, Belev B, Tomas D
Int J Surg 2014 Nov;12(11):1167-71. Epub 2014 Aug 1 doi: 10.1016/j.ijsu.2014.07.275. PMID: 25091396
Dwight T, Benn DE, Clarkson A, Vilain R, Lipton L, Robinson BG, Clifton-Bligh RJ, Gill AJ
Am J Surg Pathol 2013 Feb;37(2):226-33. doi: 10.1097/PAS.0b013e3182671155. PMID: 23060355

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