Adrenal Mass in Carney Triad

Wintermark, Pia; Boubaker, Ariane; Gebhard, Susanne; Meuli, Reto; Bettschart, Vincent; Mosimann, F.; Pralong, François P.; Gaillard, Rolf C.; Gómez, Fulgencio

doi:10.1515/ijdhd.2001.2.4.229

Cited by 4 publications

(3 citation statements)

References 23 publications

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“…Four patients had normal levels of plasma cortisol, and 2 others had normal results from dexamethasone suppression testing. One patient had elevated levels of plasma cortisol before and after adrenalectomy; they were interpreted as resulting from estrogen therapy (11). Patient 1 had normal 24-hour urinary free cortisol levels 4 years before adrenalectomy, but adrenal insufficiency (confirmed by laboratory testing) developed after adrenalectomy; cortical function normalized in 3 months.…”

Section: Resultsmentioning

confidence: 99%

Adrenal Cortical Adenoma

Carney¹,

Stratakis

Young

2013

American Journal of Surgical Pathology

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Carney triad is the combination of gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma. Herein, we describe the clinical, imaging, pathologic, and follow-up findings from 14 patients for a fourth component of the syndrome, adrenal adenoma, and clinical and imaging findings consistent with the tumor from 14 others. The adrenal neoplasm was asymptomatic and usually a late finding. Results of adrenocortical function tests were normal. Computed tomography revealed low-density adrenal masses that were consistent with adenomas. Bilateral lesions were present in 4 patients. In 13 of the 14 patients who underwent surgery, resected adrenal glands and biopsy specimens featured 1 or more circumscribed, yellow tumors, up to 3.5 cm in diameter, composed of well-differentiated polygonal cells with clear vacuolated cytoplasm and a smaller component of eosinophilic cells. The extratumoral cortex had combinations normal histologic features, discrete clear cell micronodules, zonal clear cell hypertrophy, or marked atrophy. The lesion in the 14th patient was different, grossly and microscopically resembling the usual sporadic cortisol-secreting adenoma. After the tumor was excised, the patient required glucocorticoid support. None of the tumors recurred or metastasized. Fourteen additional patients had unilateral or bilateral adrenal tumors consistent with adenomas detected by imaging studies.

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Section: Resultsmentioning

confidence: 99%

Adrenal Cortical Adenoma

Carney¹,

Stratakis

Young

2013

American Journal of Surgical Pathology

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“…[17]. CTR06.01 had also ACA [15]. Patients CTRS21, CTRS23, CTRS42 and CTR07.03 and the archived specimens CT.1 to CT.24 were included in the last series on CT by Carney [4]; sample B177/B178 was from the proband with CT, parotid gland tumours and breast cancer; the patient also had a brother with Hirschprung disease.…”

Section: Patients and Candidate Gene Sequencingmentioning

confidence: 99%

The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney–Stratakis syndrome): molecular genetics and clinical implications

Stratakis

Carney

2009

Journal of Internal Medicine

275

232

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Carney triad (CT) describes the association of paragangliomas (PGLs) with gastrointestinal stromal tumours (GISTs) and pulmonary chondromas (PCH). A number of other lesions have been described in the condition including pheochromocytomas, oesophageal leiomyomas and adrenocortical adenomas; CT is a novel form of multiple endocrine neoplasia (MEN), a genetic condition with a female predilection. Inactivating mutations of the mitochondrial complex II succinate dehydrogenase (SDH) enzyme subunits SDHB, SDHC and SDHD have been found in familial and sporadic PGLs, and gain-of-function mutations of the oncogenes c-kit (KIT) and platelet-derived growth factor receptor A (PDGFRA) cause sporadic and familial GISTs. We recently reported an international series of patients with CT, 34 females and three males (median age of presentation 21 years) who did not carry SDHA, SDHB, SDHC, SDHD, KIT or PDGFRA gene mutations. Comparative genomic hybridization revealed a number of DNA copy number changes. The most frequent and greatest contiguous change was a deletion within the 1pcen13-q21 region, which harbours the SDHC gene. Another frequent change was loss of 1p. Although GISTs showed more frequent losses of 1p than PGLs, the pattern of chromosomal changes was similar in the two tumours despite their different tissue origin and histology; the findings were consistent with a common genetic aetiology of these two tumours in CT. In a separate condition, in which the association (or dyad) of GISTs with PGLs is inherited in an autosomal dominant manner (Carney–Stratakis syndrome, CSS), germline mutations of the SDHB, SDHC and SDHD genes (but not KIT or PDFGRA) were found; GISTs in this condition were caused by SDH deficiency. We conclude that CT is a novel MEN syndrome whose genetic defect remains elusive. CSS is caused by SDH defects, suggesting that sarcomas (GISTs) can be caused by defective mitochondrial oxidation, consistent with recent data implicating this enzyme in a variety of endocrine and other tumours. The above have clinical implications (i) for patients with GISTs that are cKIT- and PDGFRA-mutation negative: these tumours are usually resistant to treatment with currently available tyrosine kinase inhibitors and may be part of a syndrome such as CT or CSS; and (ii) for patients with an inherited PGL syndrome, family history should be explored to identify any other tumours in the family, and in particular other endocrine lesions and GISTs.

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“…CPGs very rarely occur in these syndromes. HLD [30,32,35,41,45] and the Carney triad [27,28,43] are the least rare situations (five and nine cases, respectively). They reflect the complexity of these associations, which prompt the need to detect the different tumours, establish therapeutic priorities, and always make joint treatment decisions with other specialisms.…”

Section: N Patients Cpg and Syndromes -Genetic + / -/ Nr Cpg And Diseasesmentioning

confidence: 98%