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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)
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.
Autosomal dominant inheritance (Orphanet)
 
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.
See: Feature record | Search on this feature
Neoplasm of the gastrointestinal tract
MedGen UID:
4846
•Concept ID:
C0017185
•
Neoplastic Process
A tumor (abnormal growth of tissue) of the gastrointestinal tract.
See: Feature record | Search on this feature
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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

Current management of succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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

Recent clinical studies

Etiology

Gastrointestinal Stromal Tumors: The GIST of Precision Medicine.
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
"Wild type" GIST: Clinicopathological features and clinical practice.
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
Update on Paragangliomas and Pheochromocytomas.
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Gastrointestinal stromal tumors in the setting of multiple tumor syndromes.
Burgoyne AM, Somaiah N, Sicklick JK
Curr Opin Oncol 2014 Jul;26(4):408-14. doi: 10.1097/CCO.0000000000000089. PMID: 24840526
Hereditary paragangliomas.
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

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
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
Paragangliomas in Carney-Stratakis Syndrome.
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
"Wild type" GIST: Clinicopathological features and clinical practice.
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
Carney triad can be (rarely) associated with germline succinate dehydrogenase defects.
Boikos SA, Xekouki P, Fumagalli E, Faucz FR, Raygada M, Szarek E, Ball E, Kim SY, Miettinen M, Helman LJ, Carney JA, Pacak K, Stratakis CA
Eur J Hum Genet 2016 Apr;24(4):569-73. Epub 2015 Jul 15 doi: 10.1038/ejhg.2015.142. PMID: 26173966Free PMC Article
Update on Paragangliomas and Pheochromocytomas.
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321

Therapy

Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor.
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
Key Issues in the Clinical Management of Gastrointestinal Stromal Tumors: An Expert Discussion.
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
Succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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
Significance of surgery for prognosis of GIST in cohort from transitional healthcare settings.
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
Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
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

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
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
"Wild type" GIST: Clinicopathological features and clinical practice.
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
Update on Paragangliomas and Pheochromocytomas.
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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
Hereditary paragangliomas.
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

"Wild type" GIST: Clinicopathological features and clinical practice.
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
Conventional Risk Stratification Fails to Predict Progression of Succinate Dehydrogenase-deficient Gastrointestinal Stromal Tumors: A Clinicopathologic Study of 76 Cases.
Mason EF, Hornick JL
Am J Surg Pathol 2016 Dec;40(12):1616-1621. doi: 10.1097/PAS.0000000000000685. PMID: 27340750
Update on Paragangliomas and Pheochromocytomas.
Lam AK
Turk Patoloji Derg 2015;31 Suppl 1:105-12. doi: 10.5146/tjpath.2015.01318. PMID: 26177321
Significance of surgery for prognosis of GIST in cohort from transitional healthcare settings.
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
Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors.
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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