Mediastinal paraganglioma type 4 syndrome associated with a Variant in the Succinate dehydrogenase Type B complex (SDHB)
PDF (Español (España))


Neuroendocrine tumor
Endocrine hypertension
Succinate dehydrogenase

How to Cite

Araque, S. E. ., Cano, R. A. ., Mantilla, Y. S., Gaona , H. L. ., Ali , W. Y. ., Pérez , J. A., & Ovalle , J. P. . (2024). Mediastinal paraganglioma type 4 syndrome associated with a Variant in the Succinate dehydrogenase Type B complex (SDHB). Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 11(1).


Introduction: Catecholamine-producing tumors are the most heritable (40%) solid neoplasms, rare, with a prevalence of less than 0.05% in the general population. They are clinically heterogeneous, mostly asymptomatic and studied as incidentalomas or during the follow-up of other pathologies.

Objective: There are few reported cases of symptomatic catecholamine-producing tumors in our region, mainly hereditary paragangliomas. Therefore, the objective of this case report is to describe the diagnostic and therapeutic approach conducted at a tertiary center in the city of Barranquilla.

Case presentation: We describe the case of a woman in her third decade of life with secondary arterial hypertension related to a functional posterior mediastinal paraganglioma. Successful surgical resection was performed, and pathology examination confirmed origin from chromaffin cells of the sympathetic ganglion. Genetic analysis identified a heterozygous mutation in the Succinate Dehydrogenase Subunit B gene, variant c166_170del, with pathogenic significance, leading to the conclusion of familial paraganglioma type 4.

Discussion and conclusion: This article discusses the definition, clinical presentation, diagnosis, treatment, and prognosis of catecholamine-secreting tumors. It presents a clinical case of type 4 paraganglioma, diagnostic tests, imaging, and clinical approach.
PDF (Español (España))


Neumann HPH, Young WFJ, Eng C. Pheochromocytoma and paraganglioma. N Engl J Med. 2019;381(6):552-565.

Fishbein L. Pheochromocytoma and paraganglioma: genetics, diagnosis, and treatment. Hematol Oncol Clin North Am. 2016;30(1):135-150.

Lenders JW, Eisenhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet. 2005;366(9486):665-675.

Lenders JW, Duh QY, Eisenhofer G, Gimenez-Roqueplo A-P, et al. Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab. 2014;99(6):1915-1942.

Meijs AC, Snel M, Corssmit EPM. Pheochromocytoma/paraganglioma crisis: case series from a tertiary referral center for pheochromocytomas and paragangliomas. Hormones. 2021;20(2):395- 403.

Prejbisz A, Lenders JW, Eisenhofer G, Januszewicz A. Cardiovascular manifestations of phaeochromocytoma. J Hypertens. 2011;29:2049-2060.

Kasperlik-Zaluska AA, Roslonowska E, Slowinska-Srzednicka J, Otto M, et al. 1,111 patients with adrenal incidentalomas observed at a single endocrinological center: incidence of chromaffin tumors. Ann N Y Acad Sci. 2006;1073:38-46.

Berends AMA, Buitenwerf E, de Krijger RR, Veeger N, van der HorstSchrivers ANA, et al. Incidence of pheochromocytoma and sympathetic paraganglioma in the Netherlands: a nationwide study and systematic review. Eur J Intern Med. 2018;51:68-73.

Young WF Jr, Maddox DE. Spells: in search of a cause. Mayo Clin Proc. 1995;70(8):757-765.

Geroula A, Deutschbein T, Langton K, Masjkur JR, Pamporaki C, et al. Pheochromocytoma and paraganglioma: clinical feature-based disease probability in relation to catecholamine biochemistry and reason for disease suspicion. Eur J Endocrinol. 2019;181:409-420.

Gabiño López B, Lazos Ochoa Minerva Chávez Mercado L, Arrecillas Zamora M. Paragangliomas. Estudio clínico patológico de 105 casos del Hospital General de México. Rev Med Hosp Gen Méx. 2011;74(2):61-67.

Omura M, Saito J, Yamaguchi K, Kakuta Y, Nishikawa T. Prospective study on the prevalence of secondary hypertension among hypertensive patients visiting a general outpatient clinic in Japan. Hypertens Res. 2004;27(3):193-202.

van Hulsteijn LT, Dekkers OM, Hes FJ, Smit JW, Corssmit EP. Risk of malignant paraganglioma in SDHB-mutation and SDHD-mutation carriers: a systematic review and metaanalysis. J Med Genet. 2012;49(12):768-776.

Talvacchio S, Nazari MA, Pacak K. Supportive management of patients with pheochromocytoma/paraganglioma undergoing noninvasive treatment. Curr Opin Endocrinol Diabetes Obes. 2022;29(3):294-301.

Perry CG, Sawka AM, Singh R, Thabane L, Bajnarek J, Young WF Jr. The diagnostic efficacy of urinary fractionated metanephrines measured by tandem mass spectrometry in detection of pheochromocytoma. Clin Endocrinol (Oxf). 2007;66(5):703-708.

Caoili EM, Korobkin M, Francis IR, Cohan RH, et al. Adrenal masses: characterization with combined unenhanced and delayed enhanced CT. Radiology. 2002;222(3):629-633.

Timmers HJ, Chen CC, Carrasquillo JA, Whatley M, et al. Comparison of 18F-fluoro-L-DOPA, 18F-fluoro-deoxyglucose, and 18F-fluorodopamine PET and 123I-MIBG scintigraphy in the localization of pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2009;94(12):4757-4767.

Nölting S, Bechmann N, Taieb D, Beuschlein F, et al. Personalized management of pheochromocytoma and paraganglioma. Endocr Rev. 2022;43(2):199-239.

Favier J, Amar L, Gimenez-Roqueplo AP. Paraganglioma and phaeochromocytoma: from genetics to personalized medicine. Nat Rev Endocrinol. 2015;11(2):101-111.

Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, et al. Clinical risk factors for malignancy and overall survival in patients with pheochromocytomas and sympathetic paragangliomas: primary tumor size and primary tumor location as prognostic indicators. J Clin Endocrinol Metab 2011;96(3):717-725.

Ben Aim L, Pigny P, Castro-Vega LJ, Buffet A, et al. Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma. J Med Genet. 2019;56(8) 513-520.

Plouin PF, Amar L, Dekkers OM, Fassnacht M, Gimenez-Roqueplo AP, et al. European society of endocrinology clinical practice guideline for long-term follow-up of patients operated on for a phaeochromocytoma or a paraganglioma. Eur J Endocrinol. 2016;174(5):G1-G10.

Jimenez C, Ma J, Roman Gonzalez A, Varghese J, et al. TNM staging and overall survival in patients with pheochromocytoma and sympathetic paraganglioma. J Clin Endocrinol Metab. 2023; 108(5):1132-1142.

Rueda-Galvis MV, Román-González A, Agredo-Delgado V. Síndrome de feocromocitoma-paragnglioma tipo 5 asociado a mutación en el complejo de la succinato deshidrogenasa de tipo A (SDHA), a propósito de un caso. Iatreia. 2023;36(1):128-136.

Manotas MC, Rivera AL, Gómez AM, Abisambra P, et al. SDHB exon 1 deletion: a recurrent germline mutation in Colombian patients with pheochromocytomas and paragangliomas. Front Genet. 2023;13:999329.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Copyright (c) 2024 Revista Colombiana de Endocrinología, Diabetes & Metabolismo




Download data is not yet available.