Carney triad: a case analysis_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

HU Su ¹ , WANG Yongqin ² , Danzengzhuoga ¹ , YIN Yuan ³ , LI Zhengyan ¹ , YUAN Fang ¹ ,  LIU Xijiao ^1,4 , HUANG Zixing ¹ , SONG Bin ^1,4

1. Department of Radiology, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;
2. Affiliated Hospital of Chengdu University, Chengdu 610041, P. R. China;
3. Gastric Cancer Center, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;
4. Department of Radiology, Sanya People’s Hospital, Sanya, Hainan 572000, P. R. China;

Corresponding author：

LIU Xijiao, Email: bless_jiao@163.com

Keywords：

Carney triad; gastrointestinal stromal tumor; cell carcinoma; retroperitoneal pheochromocytoma; pulmonary chondrosarcoma; imaging sign

DOI：

10.7507/1007-9424.202312068

Video：

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Carney triad is a rare tumor syndrome with few reports. This case showed the enhanced CT and MRI images of a rare young woman patient with Carney triad (containing gastric stromal tumor, renal cell carcinoma, adrenal pheochromocytoma, and pulmonary chondrosarcoma), which is intended to provide a reference for clinical diagnosis and differential diagnosis. This case reminds the radiologists and clinicians that the patients with a history of primary gastrointestinal stromal tumor and neoplastic lesions occurring at specific sites (pulmonary chondrosarcoma, adrenal pheochromocytoma, renal cell carcinoma, etc.) need to be alerted to the possibility of combining with Carney triad.

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(26): 1517-1518.
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(6): 543-552.
3.	Zhang L, Smyrk TC, Young WF, et al. Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol, 2010, 34(1): 53-64.
4.	Kindblom LG, Remotti HE, Aldenborg F, et al. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol, 1998, 152: 1259-1269.
5.	Parab TM, DeRogatis MJ, Boaz AM, et al. Gastrointestinal stromal tumors: a comprehensive review. J Gastrointest Oncol, 2019, 10(1): 144-154.
6.	Søreide K, Sandvik OM, Søreide JA, et al. Global epidemiology of gastrointestinal stromal tumours (GIST): A systematic review of population-based cohort studies. Cancer Epidemiol, 2016, 40: 39-46.
7.	Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 1998, 279(5350): 577-580.
8.	Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science, 2003, 299(5607): 708-710.
9.	Joensuu H, Rutkowski P, Nishida T, et al. KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence. J Clin Oncol, 2015, 33(6): 634-642.
10.	Pitsava G, Settas N, Faucz FR, et al. Carney triad, Carney-Stratakis syndrome, 3PAS and other tumors due to SDH deficiency. Front Endocrinol (Lausanne), 2021, 12: 680609.
11.	Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet, 2002, 108(2): 132-139.
12.	Joensuu H. Risk stratification of patients diagnosed with gastrointestinal stromal tumor. Hum Pathol, 2008, 39(10): 1411-1419.
13.	McDonnell MJ, Punnoose S, Viswanath YKS, et al. Gastrointestinal stromal tumours (GISTs): an insight into clinical practice with review of literature. Frontline Gastroenterol, 2017, 8(1): 19-25.
14.	Rubin BP. Gastrointestinal stromal tumours: an update. Histopathology, 2006, 48(1): 83-96.
15.	DeMatteo RP, Maki RG, Singer S, et al. Results of tyrosine kinase inhibitor therapy followed by surgical resection for metastatic gastrointestinal stromal tumor. Ann Surg, 2007, 245(3): 347-352.
16.	Yang J, Yan J, Zeng M, et al. Bone metastases of gastrointestinal stromal tumor: a review of published literature. Cancer Manag Res, 2020, 12: 1411-1417.
17.	Kassimi M, Berrada S, Habi J, et al. Gastrointestinal stromal tumor of the small intestine with lung metastasis. Radiol Case Rep, 2021, 17(1): 32-34.
18.	Agaimy A, Wünsch PH. Lymph node metastasis in gastrointestinal stromal tumours (GIST) occurs preferentially in young patients < or = 40 years: an overview based on our case material and the literature. Langenbecks Arch Surg, 2009, 394(2): 375-381.
19.	Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med, 2019, 381(6): 552-565.
20.	Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al. Clinical presentation and penetrance of pheochromocytoma / paraganglioma syndromes. J Clin Endocrinol Metab, 2006, 91(3): 827-36.
21.	Al Subhi AR, Boyle V, Elston MS. Systematic review: incidence of pheochromocytoma and paraganglioma over 70 years. J Endocr Soc, 2022, 6(9): bvac105.
22.	Lima JV Júnior, Kater CE. The pheochromocytoma / paraganglioma syndrome: an overview on mechanisms, diagnosis and management. Int Braz J Urol, 2023, 49(3): 307-319.
23.	LeBlanc M, Tabrizi M, Kapsner P et al. Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors. Hum Pathol, 2014, 45(12): 2502-2506.
24.	Rodriguez FJ, Aubry MC, Tazelaar HD, et al. Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. Am J Surg Pathol, 2007, 31(12): 1844-1853.
25.	Tian D, Wen H, Zhou Y, Fu M. Pulmonary chondroma: A clinicopathological study of 29 cases and a review of the literature. Mol Clin Oncol, 2016, 5(3): 211-215.
26.	Hoekstra MO, Bertus PM, Nikkels PG. Multiple pulmonary chondromata. A rare cause of neonatal respiratory distress. Chest, 1994, 105(1): 301-302.

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(26): 1517-1518.
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(6): 543-552.
3. Zhang L, Smyrk TC, Young WF, et al. Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol, 2010, 34(1): 53-64.
4. Kindblom LG, Remotti HE, Aldenborg F, et al. Gastrointestinal pacemaker cell tumor (GIPACT): gastrointestinal stromal tumors show phenotypic characteristics of the interstitial cells of Cajal. Am J Pathol, 1998, 152: 1259-1269.
5. Parab TM, DeRogatis MJ, Boaz AM, et al. Gastrointestinal stromal tumors: a comprehensive review. J Gastrointest Oncol, 2019, 10(1): 144-154.
6. Søreide K, Sandvik OM, Søreide JA, et al. Global epidemiology of gastrointestinal stromal tumours (GIST): A systematic review of population-based cohort studies. Cancer Epidemiol, 2016, 40: 39-46.
7. Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 1998, 279(5350): 577-580.
8. Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science, 2003, 299(5607): 708-710.
9. Joensuu H, Rutkowski P, Nishida T, et al. KIT and PDGFRA mutations and the risk of GI stromal tumor recurrence. J Clin Oncol, 2015, 33(6): 634-642.
10. Pitsava G, Settas N, Faucz FR, et al. Carney triad, Carney-Stratakis syndrome, 3PAS and other tumors due to SDH deficiency. Front Endocrinol (Lausanne), 2021, 12: 680609.
11. Carney JA, Stratakis CA. Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad. Am J Med Genet, 2002, 108(2): 132-139.
12. Joensuu H. Risk stratification of patients diagnosed with gastrointestinal stromal tumor. Hum Pathol, 2008, 39(10): 1411-1419.
13. McDonnell MJ, Punnoose S, Viswanath YKS, et al. Gastrointestinal stromal tumours (GISTs): an insight into clinical practice with review of literature. Frontline Gastroenterol, 2017, 8(1): 19-25.
14. Rubin BP. Gastrointestinal stromal tumours: an update. Histopathology, 2006, 48(1): 83-96.
15. DeMatteo RP, Maki RG, Singer S, et al. Results of tyrosine kinase inhibitor therapy followed by surgical resection for metastatic gastrointestinal stromal tumor. Ann Surg, 2007, 245(3): 347-352.
16. Yang J, Yan J, Zeng M, et al. Bone metastases of gastrointestinal stromal tumor: a review of published literature. Cancer Manag Res, 2020, 12: 1411-1417.
17. Kassimi M, Berrada S, Habi J, et al. Gastrointestinal stromal tumor of the small intestine with lung metastasis. Radiol Case Rep, 2021, 17(1): 32-34.
18. Agaimy A, Wünsch PH. Lymph node metastasis in gastrointestinal stromal tumours (GIST) occurs preferentially in young patients < or = 40 years: an overview based on our case material and the literature. Langenbecks Arch Surg, 2009, 394(2): 375-381.
19. Neumann HPH, Young WF Jr, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med, 2019, 381(6): 552-565.
20. Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al. Clinical presentation and penetrance of pheochromocytoma / paraganglioma syndromes. J Clin Endocrinol Metab, 2006, 91(3): 827-36.
21. Al Subhi AR, Boyle V, Elston MS. Systematic review: incidence of pheochromocytoma and paraganglioma over 70 years. J Endocr Soc, 2022, 6(9): bvac105.
22. Lima JV Júnior, Kater CE. The pheochromocytoma / paraganglioma syndrome: an overview on mechanisms, diagnosis and management. Int Braz J Urol, 2023, 49(3): 307-319.
23. LeBlanc M, Tabrizi M, Kapsner P et al. Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors. Hum Pathol, 2014, 45(12): 2502-2506.
24. Rodriguez FJ, Aubry MC, Tazelaar HD, et al. Pulmonary chondroma: a tumor associated with Carney triad and different from pulmonary hamartoma. Am J Surg Pathol, 2007, 31(12): 1844-1853.
25. Tian D, Wen H, Zhou Y, Fu M. Pulmonary chondroma: A clinicopathological study of 29 cases and a review of the literature. Mol Clin Oncol, 2016, 5(3): 211-215.
26. Hoekstra MO, Bertus PM, Nikkels PG. Multiple pulmonary chondromata. A rare cause of neonatal respiratory distress. Chest, 1994, 105(1): 301-302.

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