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Carney triad

MedGen UID:
388099
•Concept ID:
C1858592
•
Disease or Syndrome
Synonym: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA
SNOMED CT: Carney triad (733492003)
 
Monarch Initiative: MONDO:0011424
OMIM®: 604287
Orphanet: ORPHA139411

Definition

A rare non-hereditary condition characterised by gastrointestinal stromal tumours (GIST), pulmonary chondromas and extraadrenal paragangliomas. Less than 100 cases have been reported worldwide. The disease primarily affects young women (mean age of onset 20 years). Most patients initially present with two of the three tumours (incomplete Carney''s triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anaemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Pulmonary chondromas occur in approximately 80% of cases. Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients. The aetiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney''s triad. [from SNOMEDCT_US]

Term Hierarchy

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

Professional guidelines

PubMed

Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

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
Gastrointestinal stromal tumour.
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Carney triad: a syndrome featuring paraganglionic, adrenocortical, and possibly other endocrine tumors.
Carney JA
J Clin Endocrinol Metab 2009 Oct;94(10):3656-62. Epub 2009 Sep 1 doi: 10.1210/jc.2009-1156. PMID: 19723753
Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma.
Rodriguez FJ, Aubry MC, Tazelaar HD, Slezak J, Carney JA
Am J Surg Pathol 2007 Dec;31(12):1844-53. doi: 10.1097/PAS.0b013e3180caa0b5. PMID: 18043038

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
Endobronchial chondromas.
Fernandez-Bussy S, Labarca G, Descalzi F, Pires Y, Santos M, Folch E, Majid A
Respir Care 2014 Dec;59(12):e193-6. Epub 2014 Jul 15 doi: 10.4187/respcare.02673. PMID: 25233382
Gastrointestinal stromal tumour.
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Carney's triad.
Noushif M, Chandra A, Gupta V, Kumar A
Indian J Gastroenterol 2013 Jul;32(4):281-2. Epub 2013 Mar 5 doi: 10.1007/s12664-013-0310-9. PMID: 23460241
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Therapy

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
Gastrointestinal stromal tumour.
Joensuu H, Hohenberger P, Corless CL
Lancet 2013 Sep 14;382(9896):973-83. Epub 2013 Apr 24 doi: 10.1016/S0140-6736(13)60106-3. PMID: 23623056
Carney's triad.
Noushif M, Chandra A, Gupta V, Kumar A
Indian J Gastroenterol 2013 Jul;32(4):281-2. Epub 2013 Mar 5 doi: 10.1007/s12664-013-0310-9. PMID: 23460241
Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours.
Lasota J, Miettinen M
Histopathology 2008 Sep;53(3):245-66. Epub 2008 Feb 28 doi: 10.1111/j.1365-2559.2008.02977.x. PMID: 18312355
KIT and PDGFRA mutations in gastrointestinal stromal tumors (GISTs).
Lasota J, Miettinen M
Semin Diagn Pathol 2006 May;23(2):91-102. doi: 10.1053/j.semdp.2006.08.006. PMID: 17193822

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
Imaging pediatric gastrointestinal stromal tumor (GIST).
Herzberg M, Beer M, Anupindi S, Vollert K, Kröncke T
J Pediatr Surg 2018 Sep;53(9):1862-1870. Epub 2018 Mar 29 doi: 10.1016/j.jpedsurg.2018.03.022. PMID: 29685489
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
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
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Clinical prediction guides

SDHC Methylation Pattern in Patients With Carney Triad.
Daumova M, Svajdler M, Fabian P, Kren L, Babankova I, Jezova M, Sedivcova M, Vanecek T, Behenska K, Michal M, Daum O
Appl Immunohistochem Mol Morphol 2021 Sep 1;29(8):599-605. doi: 10.1097/PAI.0000000000000920. PMID: 33624983
Succinate dehydrogenase (SDH)-deficient neoplasia.
Gill AJ
Histopathology 2018 Jan;72(1):106-116. doi: 10.1111/his.13277. PMID: 29239034
"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
Somatic and germline mutations in NETs: Implications for their diagnosis and management.
Minnetti M, Grossman A
Best Pract Res Clin Endocrinol Metab 2016 Jan;30(1):115-27. Epub 2015 Oct 9 doi: 10.1016/j.beem.2015.09.007. PMID: 26971848
Gastrointestinal stromal tumors: review on morphology, molecular pathology, prognosis, and differential diagnosis.
Miettinen M, Lasota J
Arch Pathol Lab Med 2006 Oct;130(10):1466-78. doi: 10.5858/2006-130-1466-GSTROM. PMID: 17090188

Recent systematic reviews

Imaging pediatric gastrointestinal stromal tumor (GIST).
Herzberg M, Beer M, Anupindi S, Vollert K, Kröncke T
J Pediatr Surg 2018 Sep;53(9):1862-1870. Epub 2018 Mar 29 doi: 10.1016/j.jpedsurg.2018.03.022. PMID: 29685489
Gastrointestinal stromal tumors (GIST) in children and adolescents: A comprehensive review of the current literature.
Benesch M, Wardelmann E, Ferrari A, Brennan B, Verschuur A
Pediatr Blood Cancer 2009 Dec 15;53(7):1171-9. doi: 10.1002/pbc.22123. PMID: 19499582

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