U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
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
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 tumor (abnormal growth of tissue) of the gastrointestinal tract.

Term Hierarchy

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

Professional guidelines

PubMed

Neppala P, Banerjee S, Fanta PT, Yerba M, Porras KA, Burgoyne AM, Sicklick JK
Cancer Metastasis Rev 2019 Sep;38(3):525-535. doi: 10.1007/s10555-019-09818-0. PMID: 31773431Free PMC Article

Curated

NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

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
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Burgoyne AM, Somaiah N, Sicklick JK
Curr Opin Oncol 2014 Jul;26(4):408-14. doi: 10.1097/CCO.0000000000000089. PMID: 24840526
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article

Diagnosis

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
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
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
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Gaal J, Stratakis CA, Carney JA, Ball ER, Korpershoek E, Lodish MB, Levy I, Xekouki P, van Nederveen FH, den Bakker MA, O'Sullivan M, Dinjens WN, de Krijger RR
Mod Pathol 2011 Jan;24(1):147-51. Epub 2010 Oct 1 doi: 10.1038/modpathol.2010.185. PMID: 20890271Free PMC Article

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
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
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
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free 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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NCCN, 2024
      NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®), Soft Tissue Sarcoma, 2024

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...