Carney triad
Authors:
L. Fiala 1; I. Kocáková 2; R. Šimůnek 1; E. Krejčí 3; I. Babánková 3; R. Šefr 1
Authors place of work:
Klinika operační onkologie, Masarykův onkologický ústav a LF Masarykovy univerzity Brno
přednosta: doc. MUDr. R. Šefr, Ph. D.
1; Klinika komplexní onkologické péče, Masarykův onkologický ústav a LF Masarykovy univerzity Brno
přednosta: prof. MUDr. R. Vyzula, CSc.
2; Oddělení onkologické patologie, Masarykův onkologický ústav Brno
primář: MUDr. P. Fabian, Ph. D.
3
Published in the journal:
Rozhl. Chir., 2017, roč. 96, č. 6, s. 267-272.
Category:
Case Report
Summary
Carney triad is a synchronous or metachronous association of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma and extra-adrenal paraganglioma. The majority of patients have only one or two components of the triad, all three tumors being found in only about 2% of the patients at the time of the first diagnosis. The most common combination is gastric and pulmonary tumors. We report a case of Carney triad which was diagnosed at Masaryk Memorial Cancer Institute. A 57-year-old female patient with a history of gastric resection for leiomyosarcoma at the age of 14 and with an unclear pulmonary lesion evident on chest X-ray since as early as 2003. She was referred to our Clinic of Comprehensive Cancer Care after being diagnosed with unspecified tumors of the stomach, the left retroperitoneum and two liver metastases. Biopsy of the retroperitoneal mass was performed and histological examination showed pheochromocytoma. The patient underwent resection of the retroperitoneal tumor and wedge resection of the gastric tumor, left hemihepatectomy and left adrenalectomy (in two separate operations). The excised gastric tumor was a gastrointestinal stromal tumor (GIST) with a low risk of malignancy. Analysis of a liver specimen, however, showed two GIST metastases. No pathology was found in the left adrenal gland and the retroperitoneal tumor was positive for chromogranin A. Paraganglioma was thus diagnosed. Subsequently, mutational analysis of genes coding for succinate dehydrogenase subunits B, C and D (SDHB, SDHC, SDHD) and analysis of DNA methylation at the gene locus of SDHC was made. Carney triad was thus confirmed and the unclear pulmonary lesion could be described as benign chondroma. This report demonstrates the difficulty in distinguishing between Carney triad and Carney-Stratakis syndrome. Molecular information should improve the diagnosis of Carney triad.
Key words:
Carney triad – GIST − pulmonary chondroma − extraadrenal paraganglioma−Carney-Stratakis syndrome
Zdroje
1. Carney JA, Sheps SG, Go VL, et al. The triad of gastric leiomyosarcoma, functioning extra-adrenal paraganglioma and pulmonary chondroma. N Engl J Med 1977;296:1517−18.
2. Carney JA. Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence. Mayo Clin Proc 1999;74:543−52.
3. Rodriguez FJ, Aubry M, Tazelaar HD, et al. Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. Am J Surg Pathol 2007;31:1844−53.
4. Alrashdi I, Bano G, Maher ER, et al. Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. Familial Cancer 2010;9:443−7.
5. Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet 2002; 108:132−9.
6. Rubin BP, Heinrich MC, Corless CL. Gastrointestinal stromal tumour. Lancet 2007;369:1731–41.
7. Kocáková I, Fiala L, Kocák I. Gastrointestinální stromální nádory. Aktualizovaný pohled na personalizaci léčby. Mol Target Ther News 2016;2:16−21.
8. Pasini B, McWhinney SR, Bei T, et al. 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. Eur J Hum Genet 2008; 16:79−88.
9. Haller F, Moskalev EA, Faucz FR, et al. Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. Endocr Relat Cancer 2014;21:567−77.
10. Byrne CM, Daneshjoo R, Wyatt JM, et al. Gastrointestinal hemorrhage as a presentation of Carney’s triad. Anz J Surg 2007;77:88−90.
11. Bednarski BK, Pisters PWT, Hunt KK. The role of surgery in the multidisciplinary management of patients with localized gastrointestinal stromal tumors. Expert Rev Anticancer Ther 2012;12:1069–78.
12. L. Fiala L, Šefr R, Kocáková I, et al. Léčba gastrointestinálních stromálních tumorů – komplexní pohled chirurga. Rozhl Chir 2015;94:189−92.
13. Stratakis CA, Carney JA. 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. J Intern Med 2009;266:43−52.
14. Murali R, Carney JA. An asymptomatic, incidentally discovered pulmonary tumor in a 41-year-old woman. Arch Pathol Lab Med 2005;129:191−4.
15. Chen CF, Chuang CH, Liu MK, et al. Clinical, radiologic and pathologic characteristics of the Carney triad: a case report and literature review. Kaohsiung J Med Sci 2010;26:428−34.
16. Vogl TJ, Lehnert T, Wetter A, et al. Interventional radiology in Carney triad. Eur Radiol 2005;15:833−7.
17. Gastrointestinal stromal tumors: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol 2012;23(Suppl 7):vii49–vii55.
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