Keywords
feocromocitoma
catecolaminas
hipertensión
neurofibromatosis
incidentaloma adrenal
catecholamines
hypertension
neurofibromatoses
adrenal incidentaloma
Pheochromocytoma
catecolaminas
hipertensión
neurofibromatosis
incidentaloma adrenal
catecholamines
hypertension
neurofibromatoses
adrenal incidentaloma
Pheochromocytoma
How to Cite
Pinzón Tovar, A., Díaz, E. M., Motta, O. Y., & Castro, M. (2017). Nuevos casos de feocromocitoma en el hospital universitario de Neiva. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 2(3), 63–70. https://doi.org/10.53853/encr.2.3.98
Abstract
El feocromocitoma es un tumor productor de catecolaminas con una prevalencia de 2 a 8 por millón de personas, que deriva en 85% de los casos de las células cromafines de la médula suprarrenal. La presente revisión, ilustrada con una serie de casos, brinda una actualización del tema que muestra situaciones de la vida real que ocurren en nuestra institución. Las dificultades para el estudio y diagnóstico, por la pobre disponibilidad de las pruebas para determinar el exceso de catecolaminas o sus metabolitos y lo infrecuente de la condición, pueden retardar la sospecha de esta patología como una posibilidad diagnóstica y diferir la interconsulta a endocrinología, necesaria para aportar en el tratamiento de los casos de feocromocitoma. Con este documento describimos lo que ocurre en nuestra población y realizamos una revisión práctica del estudio, diagnóstico y manejo actual de este tipo de tumores.
Abstract
Pheochromocytoma is a catecholamine producing tumor with a prevalence of 2 to 8 per million people, 85% arise from chromaffin cells of the adrenal medulla. The present review, illustrated with a case series, gives an update on the issue showing real life situations that occur in our institution. The difficulties in the study and diagnosis by the poor availability of tests for excess catecholamines or their metabolites and uncommon condition, can slow the suspicion of this disease as a diagnostic possibility and defer interconsultation to endocrinology, necessary for contribute to treat pheochromocytoma cases. In this paper we describe what happens in our community and realize a practical review in the study, diagnosis and current management of these tumors.
References
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11. Maher E, Neumann H, Richard S, Von Hippel–Lindau disease: A clinical and scientific review. Eur J Hum Genet (2011) 19, 617–623.
12. Opocher G, Schiavi, Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab 24 (2010) 943–956.
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16. Mazzaglia P., Hereditary Pheochromocytoma and Paraganglioma. J Surg On- col 2012; 106:580–585.
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20. Welander J, Soderkvist P, Gimm O, Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2011: 1; 18, 253-276.
21. Jimerez C, Cote G, Arnold A, Gagel RF. Review: should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? J Clin Endocrinol Metab 2006; 91:2851–8.
22. Walther MM, Herring J, Enquist E, Keiser HR & Linehan WM. Von Reckling- hausen’s disease and pheochromocytomas. J Urol 1999; 162(5): 1582– 1586.
23. Welander J, Soderkvist P, Gimm O. The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond. Endocr Relat Cancer
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24. Lenders J, Duh Q, Eisenhofer G, Gimenez-Roqueplo A, Grebe S , Murad M “et al”, Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2014 : 99(6):1915–1942.
25. Waldmann J, Langer P, Habbe N, Fendrich V, Ramaswamy A, Rothmund M, Bartsch DK , Slater EP , Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. Endocrine 2009 : 35 347–355.
26. Mannelli M, Ercolino T, Giache V, Simi L, Cirami C, Parenti G, Genetic screening for pheochromocytoma: should SDHC gene analysis be included? J Med Genet 2007: 44 586–587.
27. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler, A HIF1 alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005: 1, 72–80.
28. De Jong WH, de Vries EG, Kema IP. Current status and future developments of LC–MS/MS in clinical chemistry for quantification of biogenic amines. Clin Biochem 2011: 44 95–103.
29. EisenhoferS G, Screening for Pheochromocytomas and Paragangliomas. Curr Hypertens Rep, 2012, 14:130–137.
30. Minnelli M, Lenders J , Pacak K , Parenti G , Eisenhofer G , Subclinical phaeochromocytoma. Best Pract Res Clin Endocrinol Metab 26, 2012: 507–515.
31. Van Berkel A, Lenders J, Timmers H, Biochemical diagnosis of phaeochromocytoma and paraganglioma. Eur J Endocrinol (2014) 170, R109–R119.
32. De Jong WH, Eisenhofer G, Post WJ, Muskiet FA, and de Vries EG, Kema IP. Dietary influences on plasma and urinary metanephrines: implications for diagnosis of catecholamine-producing tumors. J Clin Endocrinol Metab 2009 94 2841–2849.
33. Davidson FD. Paracetamol-associated interference in an HPLC-ECD assay for urinary free metadrenalines and catecholamines. Ann Clin Biochem
2004: 41 316–320.
34. Eisenhofer G, Goldstein DS, Walther MM, Friberg P, Lenders JW, Keiser HR , Pacak K. Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. J Clin Endocrinol Metab 2003: 88 2656–2666.
35. Lumachi F, Tregnaghi A, Zucchetta P, Sensitivity and positive predictive value of CT, MRI and 123I-MIBG scintigraphy in localizing pheochromocytomas: a prospective study. Nucl Med Commun. 2006: 27(7):583Y587.
36. Blanchet E, Martucci V, Pacak K, Pheochromocytoma and paraganglioma: current functional and future molecular imaging. Front Oncol.2012 :1 ,58
37. Song J, Mayo-Smith W, Current Status of Imaging for Adrenal Gland Tumors. Surg Oncol Clin N Am 23, 2014: 847–861
38. Jacques AE, Sahdev A, Sandrasagara M, Adrenal phaeochromocytoma: correlation of MRI appearances with histology and function. Eur Radiol 2008; 18:2885–92.
39. Khan S,Win Z, Szyszko T, Lloyd C, Dunn J, Alavi A , AL-Nahhas A, PET Imaging of Pheochromocytoma. PET Clin 2, 2008: 341–349.
40. Baudin E, Habra M, Deschamps F, Cote G, Dumont F, Cabanillas M “et al”, Treatment of malignant pheochromocytoma and paraganglioma. Eur J Endocrinol, 2014: 171, 111–122.
41. Havekes B, King K, Lai E, Romijn J, Corssmit E, Pacak K ,New imaging approaches to phaeochromocytomas and paragangliomas. Clin Endocrinol. 2010: 72, 137–145.
42. Goldstein RE, O’Neill JA Jr, Holcomb GW, Clinical experience over 48 years with pheochromocytoma. Ann Surg. 1999; 229(6):755-764.
43. Zuber S, Kantorovich V, Pacak K, Hypertension in Pheochromocytoma: Characteristics and Treatment. Endocrinol Metab Clin N Am 40 (2011) 295–311.
44. Pacak K. Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab. 2007; 92(11):4069-4079.
45. Domi R, Laho H. Management of pheochromocytoma: Old ideas and new drugs. Niger J Clin Pract 2012; 15:253-257.
46. Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, Habra MA, Rich T, Busaidy N, Cote GJ, “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, 717–725.
2. Neumann HPH, Bausch B, Mcwhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Germ-line mutations in non syndromic pheochromocytoma. N Engl J Med 2002; 346: 1459–1466.
3. Mittendorf E, Evans D, Lee J, Perrier N, Pheochromocytoma: Advances in Genetics, Diagnosis, Localization, and Treatment. Hematol Oncol Clin N Am 21 (2007) 509–525.
4. Neumann HPH, Bausch B, Mcwhinney SR, Bender BU, Gimm O, Franke G, Schipper J, Klisch J, Altehoefer C, Zerres K, Januszewicz A, Eng C, Germ-line mutations in non syndromic pheochromocytoma. N Engl J Med 2002; 346: 1459–1466.
5. Chen H , Sippel R, O’Dorisio M, Vinik A, Lloyd R, Karel, The North American Neuroendocrine Tumor Society Consensus Guideline for the Diagnosis and Management of Neuroendocrine Tumors. Pancreas 2010; 39: 775-783.
6. Lefebvre M, Foulkes W.D., Pheochromocytoma and paraganglioma syndromes: genetics and management update. Curr Oncol, 2014; 21: 8-17.
7. Fishbein L, Nathanson K, Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background. Cancer Genet 205,
2012, 1-11.
8. Gimenez–Roqueplo F, Genetics of paragangliomas and pheochromocytomas [French]. Med Sci (Paris) 2012; 28:625–32.
9. Jafri M, Maher E, The genetics of pheochromocytoma: using clinical features to guide genetic testing. Eur J Endocrinol 2012:166,151–158.
10. Krishnappa R, Chikaraddi SB, Arun HN, Deshmane V, Pheochromocytoma in Indian patients: A retrospective study. Indian J Cancer 2012; 49:188-93.
11. Maher E, Neumann H, Richard S, Von Hippel–Lindau disease: A clinical and scientific review. Eur J Hum Genet (2011) 19, 617–623.
12. Opocher G, Schiavi, Genetics of pheochromocytomas and paragangliomas. Best Pract Res Clin Endocrinol Metab 24 (2010) 943–956.
13. Vicha A, Musil Z, Pacak K, Genetics of pheochromocytoma and paraganglioma syndromes: new advances and future treatment options. Curr Opin Endocrinol Diabetes Obes 2013, 20:186–191.
14. Kola?kov K, Tupikowski K, Bednarek-Tupikowska G, Genetic Aspects of Pheochromocytoma. Adv Clin Exp Med 2012, 21, 6, 821–829.
15. Kaelin Jr. WG. Molecular basis of the VHL hereditary cancer syndrome. Nat Rev Cancer 2002; 2(9): 673–682.
16. Mazzaglia P., Hereditary Pheochromocytoma and Paraganglioma. J Surg On- col 2012; 106:580–585.
17. Knudson Jr. AG, Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68(4): 820–823.
18. Hirbe A, Gutmann D, Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet Neurol 2014; 13: 834–43.
19. Burnichon N, mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res 2012:18, 2828–2837.
20. Welander J, Soderkvist P, Gimm O, Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2011: 1; 18, 253-276.
21. Jimerez C, Cote G, Arnold A, Gagel RF. Review: should patients with apparently sporadic pheochromocytomas or paragangliomas be screened for hereditary syndromes? J Clin Endocrinol Metab 2006; 91:2851–8.
22. Walther MM, Herring J, Enquist E, Keiser HR & Linehan WM. Von Reckling- hausen’s disease and pheochromocytomas. J Urol 1999; 162(5): 1582– 1586.
23. Welander J, Soderkvist P, Gimm O. The NF1 gene: a frequent mutational target in sporadic pheochromocytomas and beyond. Endocr Relat Cancer
2013:20, 13–17.
24. Lenders J, Duh Q, Eisenhofer G, Gimenez-Roqueplo A, Grebe S , Murad M “et al”, Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab, 2014 : 99(6):1915–1942.
25. Waldmann J, Langer P, Habbe N, Fendrich V, Ramaswamy A, Rothmund M, Bartsch DK , Slater EP , Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas. Endocrine 2009 : 35 347–355.
26. Mannelli M, Ercolino T, Giache V, Simi L, Cirami C, Parenti G, Genetic screening for pheochromocytoma: should SDHC gene analysis be included? J Med Genet 2007: 44 586–587.
27. Dahia PL, Ross KN, Wright ME, Hayashida CY, Santagata S, Barontini M, Kung AL, Sanso G, Powers JF, Tischler, A HIF1 alpha regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet 2005: 1, 72–80.
28. De Jong WH, de Vries EG, Kema IP. Current status and future developments of LC–MS/MS in clinical chemistry for quantification of biogenic amines. Clin Biochem 2011: 44 95–103.
29. EisenhoferS G, Screening for Pheochromocytomas and Paragangliomas. Curr Hypertens Rep, 2012, 14:130–137.
30. Minnelli M, Lenders J , Pacak K , Parenti G , Eisenhofer G , Subclinical phaeochromocytoma. Best Pract Res Clin Endocrinol Metab 26, 2012: 507–515.
31. Van Berkel A, Lenders J, Timmers H, Biochemical diagnosis of phaeochromocytoma and paraganglioma. Eur J Endocrinol (2014) 170, R109–R119.
32. De Jong WH, Eisenhofer G, Post WJ, Muskiet FA, and de Vries EG, Kema IP. Dietary influences on plasma and urinary metanephrines: implications for diagnosis of catecholamine-producing tumors. J Clin Endocrinol Metab 2009 94 2841–2849.
33. Davidson FD. Paracetamol-associated interference in an HPLC-ECD assay for urinary free metadrenalines and catecholamines. Ann Clin Biochem
2004: 41 316–320.
34. Eisenhofer G, Goldstein DS, Walther MM, Friberg P, Lenders JW, Keiser HR , Pacak K. Biochemical diagnosis of pheochromocytoma: how to distinguish true- from false-positive test results. J Clin Endocrinol Metab 2003: 88 2656–2666.
35. Lumachi F, Tregnaghi A, Zucchetta P, Sensitivity and positive predictive value of CT, MRI and 123I-MIBG scintigraphy in localizing pheochromocytomas: a prospective study. Nucl Med Commun. 2006: 27(7):583Y587.
36. Blanchet E, Martucci V, Pacak K, Pheochromocytoma and paraganglioma: current functional and future molecular imaging. Front Oncol.2012 :1 ,58
37. Song J, Mayo-Smith W, Current Status of Imaging for Adrenal Gland Tumors. Surg Oncol Clin N Am 23, 2014: 847–861
38. Jacques AE, Sahdev A, Sandrasagara M, Adrenal phaeochromocytoma: correlation of MRI appearances with histology and function. Eur Radiol 2008; 18:2885–92.
39. Khan S,Win Z, Szyszko T, Lloyd C, Dunn J, Alavi A , AL-Nahhas A, PET Imaging of Pheochromocytoma. PET Clin 2, 2008: 341–349.
40. Baudin E, Habra M, Deschamps F, Cote G, Dumont F, Cabanillas M “et al”, Treatment of malignant pheochromocytoma and paraganglioma. Eur J Endocrinol, 2014: 171, 111–122.
41. Havekes B, King K, Lai E, Romijn J, Corssmit E, Pacak K ,New imaging approaches to phaeochromocytomas and paragangliomas. Clin Endocrinol. 2010: 72, 137–145.
42. Goldstein RE, O’Neill JA Jr, Holcomb GW, Clinical experience over 48 years with pheochromocytoma. Ann Surg. 1999; 229(6):755-764.
43. Zuber S, Kantorovich V, Pacak K, Hypertension in Pheochromocytoma: Characteristics and Treatment. Endocrinol Metab Clin N Am 40 (2011) 295–311.
44. Pacak K. Preoperative management of the pheochromocytoma patient. J Clin Endocrinol Metab. 2007; 92(11):4069-4079.
45. Domi R, Laho H. Management of pheochromocytoma: Old ideas and new drugs. Niger J Clin Pract 2012; 15:253-257.
46. Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, Habra MA, Rich T, Busaidy N, Cote GJ, “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, 717–725.
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