An incidental finding of pheochromocytoma in a 33-year-old patient with Lynch syndrome

Czech version

Authors: Emília Mojtová ¹; Jana Hanajíková ²; Olívia Hamidová ³; Gabriel Bognár ⁴; Daniel Dyttert ⁵; Marianna Grigerová ¹; Štefan Kečkéš ⁶; Ján Podoba ¹
Authors‘ workplace: Klinika endokrinológie LF SZU a OUSA, Bratislava ¹; II. rádiologická klinika LF UK a OUSA, Bratislava ²; Klinika lekárskej genetiky, OUSA Bratislava ³; Ústav patológie LF SZU a OUSA, Bratislava ⁴; Klinika onkologickej chirurgie LF UK a OUSA, Bratislava ⁵; Oddelenie imunodiagnostiky OUSA a Vysoká škola zdravotníctva a sociálnej práce sv. Alžbety, Bratislava ⁶
Published in: Vnitř Lék 2020; 66(5): 80-84
Category: Case Report

Overview

Pheochromocytoma is a catecholamine-producing neuroendocrine tumor arising from chromaffin cells of the adrenal medulla. The detection of these tumors is extremely important because they are associated with high cardiovascular morbidity and mortality. Progress in molecular genetics has revealed that up to 35% of pheochromocytomas are inhereted. Lynch syndrome (hereditary nonpolypous colorectal cancer –⁠ HNPCC) is an autosomal dominant genetic condition that is associated with a high risk of colorectal cancer or other extracolonic tumors (adenocarcinoma of endometrium, stomach, ovarian carcinoma, carcinoma of urinary tract, small intestine, brain tumors and skin cancer). Foreign medical journals are reporting an increasing number of cases on coexistence of HNPCC and neuroendocrine tumors, including pheochromocytoma. It increases the likelihood that this type of tumor could represent an additional extracolonic manifestation of Lynch syndrome.

Keywords:

pheochromocytoma – Lynch syndrome – extracolonic manifestation

Sources

1. Zelinka T, Widimský J. Pheochromocytoma –⁠ Why is its early diagnosis so important for patient? | Feochromocytom –⁠ Proč je jeho časná diagnóza pro pacienta dôležitá? Vnitř Lék., 2015; 61 (5) : 487–491.

2. Pacák K, Lazúrová I. Endokrinní nádory nadledvin v současné klinické praxi. Galen; 2011 : 240 s.

3. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. Journal of Clinical Oncology, 34, 2005; 34 : 8812–8818.

4. Martucci VL, Pacak K. Pheochromocytoma and Paraganglioma: Diagnosis, Genetics, Management and Treatment. Curr Probl Cancer, 2014; 38 : 7–41.

5. Jochmanova I, Wolf KI, King KS, et al. SDHB ‑⁠ related pheochromocytoma and paraganglioma penetrance and genotype‑phenotype correletions. J Cancer Res Clin Oncol, 2017; 143 : 1421–1435.

6. Costa MHS, Ortiga‑Carvalho TM, Violante AD, et al. Pheochromocytomas and paragangliomas: clinical and genetic approach. Frontiers in Endocrinology. 2015, 6 : 1–9.

7. Lenders JWM, Eisenhofer G, Mannelli M, et al. Phaeochromocytoma. Lancet 2005; 366 : 665–675.

8. Jochmanová I, Lazúrová I. Diagnostika a manažment metastatického feochromocytómu a paragangliómu. Vnitř Lék, 2017; 63(9): 580–588.

9. Lenders JWM, Duh QY, Eisenhofer G, et al. Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2014; 99 : 1915–1942.

10. Závodná K, Vávrová Ľ, Hamidová O. Diagnostika pacientov s Lynchovým syndrómom. Onkológia, 2017; 12(6): 414–420.

11. Ilenčíková D, Bartošová Z, Babál P. Lynchov syndróm –⁠ novinky v diagnostike a liečbe. Onkológia, 2010; 5 (2): 70–77.

12. Perrier RL, Van Galen P, Pasieka JL, et al. An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation. Hereditary Cancer in Clinical Practice. 2010; 8 : 17.

13. Riff BP, Katona BW, Wilkerson M, et al. HNPCC‑associated pheochromocytoma: expanding the tumor spectrum. Pancreas 2014; 44 : 676–678.

14. Kaur RJ, Pichurin PN, Hines JM. Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature. Journal of the Endocrine Society, 2019; 3(4): 784–790.

15. Benjamin G. Challis, Narayanan Kandasamy, Andrew S. Powlson, et al. Familial Adrenocortical Carcinoma in Association With Lynch Syndrome, J Clin Endocrinol Metab. 2016; 101(6): 2269–2272.

16. Young WF. The incidentally discovered adrenal mass. Clinical practice. The New England journal of medicine, 2007; 356 : 601–610.

17. Čtvrtlík F, Tudos Z, Szász P, et al. Characteristic CT features of pheochromocytomas –⁠ probability model calculation tool based on a multicentric study. Biomedical Papers, 2019; 163 (3): 212–219.

18. Balogova S, Talbot JN, Nataf V, et al. 18 F‑Fluorodihydroxyphenylalanine vs other radiopharmaceuticals for imaging neuroendocrine tumours according to their type. European Journal of Nuclear Medicine and Molecular Imaging, 2013; 40 : 943–966.