Keywords
feocromocitoma
paraganglioma
neuroendocrinología
paraganglioma
neuroendocrinología
How to Cite
Román-González, A. (2017). Nuevos conceptos en feocromocitoma y paraganglioma en el 2017. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 4(4), 19–23. https://doi.org/10.53853/encr.4.4.148
Abstract
El feocromocitoma y el paraganglioma son tumores neuroendocrinos derivados de la cresta neural. Son tumores infrecuentes en la práctica clínica diaria. El feocromocitoma está localizado en la médula suprarrenal y el paraganglioma es un tumor localizado en los paraganglios del sistema nervioso autónomo, por ende, su localización es extraadrenal. Existen predictores clínicos de malignidad como el tamaño, la localización y las mutaciones en SHDB. La presencia de predictores clínicos y la supervivencia según el compromiso metastásico en aquellos casos con feocromocitoma/ paraganglioma maligno ha permitido por primera vez crear la clasificación TNM para esta enfermedad. Adicionalmente, la evaluación genética se ha establecido como el paradigma de manejo. Los resultados del análisis del genoma del feocromocitoma confirman una alta heredabilidad de esta enfermedad y descubren nuevos genes que pueden convertirse en objetivosterapéuticos para el futuro.
References
1. Román-González A, Sierra-Zuluaga J, Gutiérrez-Restrepo J, Builes-Barrera C, Jiménez-Vásquez C. Feocromocitoma-Paraganglioma: revisión de tema. Medicina y Laboratorio. 2015;21(5-6):111-30.
2. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014;14(2):108-19.
3. Jimenez C, Libutti S, Landry C, Lloyd R, McKay R, Rohren E, et al. Adrenal- Neuroendocrine Tumors. In: Amin MB, Edge S, Greene F, Byrd DR, Brook- land RK, Washington MK, et al., editors. AJCC Cancer Staging Manual. 8 ed. New York: Springer; 2017. p. 919-27.
4. Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, et al. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. Cancer Cell. 2017.
5. Roman-Gonzalez A, Jimenez C. Malignant pheochromocytoma-paraganglioma: pathogenesis, TNM staging, and current clinical trials. Curr Opin Endo- crinol Diabetes Obes. 2017.
6. Roman-Gonzalez A, Zhou S, Ayala-Ramirez M, Shen C, Waguespack SG, Habra MA, et al. Impact of Surgical Resection of the Primary Tumor on Overall Survival in Patients With Metastatic Pheochromocytoma or Sympathetic Paraganglioma. Ann Surg. 2017.
7. Roman-González A, Jiménez-Vásquez P, Hyde SM, Jessop A, Jimenez C. Management of Locally Advanced and Metastatic Pheochromocytoma and Paraganglioma. In: Electron K, editor. Management of Adrenal Masses in Children and Adults. 1: Springer International Publishing; 2016. p. 277-300.
8. Jimenez C, Waguespack S, Habra M, Busaidy N, Dadu R, Tamsen G, et al. Cabozantanib in patients with unresectable metastatic pheochromocytoma and paraganglioma. Global Academic Programs of Cancer Centers Symposium; Houston, Tx2017.
9. Jimenez C, Pryma DA, Sullivan DC, Schwarz JK, Noto RB, Stambler N, et al. Long Term Follow-up of a Pivotal Phase 2 Study of Ultratrace® Iobenguane I-131 (AZEDRATM) in Patients with Malignant Relapsed/Refractory Pheochromocytoma (Pheo)/Paraganglioma (Para). Endocrine Reviews. 2015;36(2):OR24-6.
10. Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, Habra MA, Rich T, 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):717-25.
11. Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab. 2007;92(10):3822-8.
12. Waguespack SG, Rich T, Grubbs E, Ying AK, Perrier ND, Ayala-Ramirez M, et al. A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2010;95(5):2023-37.
13. Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab. 2009;94(5):1701-5.
14. Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, Gagel RF, et al. The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 2013;98(11):E1813-9.
15. Rich TA, Jonasch E, Matin S, Waguespack SG, Gombos DS, Santarpia L, et al. A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. Cancer Invest. 2008;26(6):642-6.
16. Jimenez C, Cabanillas ME, Santarpia L, Jonasch E, Kyle KL, Lano EA, et al. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel- Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. J Clin Endocrinol Metab. 2009;94(2):386-91.
17. Gruber LM, Erickson D, Babovic-Vuksanovic D, Thompson GB, Young WF, Bancos I. Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol (Oxf ). 2017;86(1):141-9.
18. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287(5454):848-51.
19. Baysal BE, Maher ER. 15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations. Endocr Relat Cancer. 2015;22(4):T71- 82.
20. Castro-Vega LJ, Lepoutre-Lussey C, Gimenez-Roqueplo AP, Favier J. Rethinking pheochromocytomas and paragangliomas from a genomic perspective. Oncogene. 2016;35(9):1080-9.
21. Pillai S, Gopalan V, Smith RA, Lam AK. Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. Crit Rev Oncol Hematol. 2016;100:190-208.
22. Choueiri TK, Halabi S, Sanford BL, Hahn O, Michaelson MD, Walsh MK, et al. Cabozantinib Versus Sunitinib As Initial Targeted Therapy for Patients With Metastatic Renal Cell Carcinoma of Poor or Intermediate Risk: The Alliance A031203 CABOSUN Trial. Journal of Clinical Oncology 2016;Published online before print November 14, 2016
23. Hao Z, Sadek I. Sunitinib: the antiangiogenic effects and beyond. Onco Targets Ther. 2016;9:5495-505.
24. Jimenez C, Rohren E, Habra MA, Rich T, Jimenez P, Ayala-Ramirez M, et al. Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma. Curr Oncol Rep. 2013;15(4):356-71.
25. Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, et al. Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma. Eur J Endocrinol. 2014;171(3):R111-22.
26. Ayala-Ramirez M, Chougnet CN, Habra MA, Palmer JL, Leboulleux S, Cabanillas ME, et al. Treatment with sunitinib for patients with progressive metastatic pheochromocytomas and sympathetic paragangliomas. J Clin Endocrinol Metab. 2012;97(11):4040-50.
27. Yakes FM, Chen J, Tan J, Yamaguchi K, Shi Y, Yu P, et al. Cabozantinib (XL184), a novel MET and VEGFR2 inhibitor, simultaneously suppresses metastasis, angiogenesis, and tumor growth. Mol Cancer Ther. 2011;10(12):2298-308.
28. Gordon MS, Vogelzang NJ, Schoffski P, Daud A, Spira AI, O’Keeffe BA, et al. Activity of cabozantinib (XL184) in soft tissue and bone: Results of a phase II randomized discontinuation trial (RDT) in patients (pts) with advanced solid tumors. J Clin Oncol. 2011;29 (suppl; abstr 3010).
29. Barrett JA, Joyal JL, Hillier SM, Maresca KP, Femia FJ, Kronauge JF, et al. Comparison of high-specific-activity ultratrace 123/131I-MIBG and carrier- added 123/131I-MIBG on efficacy, pharmacokinetics, and tissue distribution. Cancer biotherapy & radiopharmaceuticals. 2010;25(3):299-308.
30. Coleman RE, Stubbs JB, Barrett JA, de la Guardia M, Lafrance N, Babich JW. Radiation dosimetry, pharmacokinetics, and safety of ultratrace Iobenguane I-131 in patients with malignant pheochromocytoma/paraganglioma or metastatic carcinoid. Cancer biotherapy & radiopharmaceuticals. 2009;24(4):469-75.
31. https://clinicaltrials.gov/ct2/show/NCT00874614
32. Bertani E, Fazio N, Botteri E, Chiappa A, Falconi M, Grana C, et al. Resection of the primary pancreatic neuroendocrine tumor in patients with unresectable liver metastases: possible indications for a multimodal approach. Surgery. 2014;155(4):607-14.
33. Capurso G, Bettini R, Rinzivillo M, Boninsegna L, Delle Fave G, Falconi M. Role of resection of the primary pancreatic neuroendocrine tumour only in patients with unresectable metastatic liver disease: a systematic review. Neuroendocrinology. 2011;93(4):223-9.
34. Dy BM, Strajina V, Cayo AK, Richards ML, Farley DR, Grant CS, et al. Surgical resection of synchronously metastatic adrenocortical cancer. Ann Surg Oncol. 2015;22(1):146-51.
35. Goffredo P, Sosa JA, Roman SA. Malignant pheochromocytoma and paraganglioma: a population level analysis of long-term survival over two decades. J Surg Oncol. 2013;107(6):659-64.
36. Strajina V, Dy BM, Farley DR, Richards ML, McKenzie TJ, Bible KC, et al. Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. Ann Surg Oncol. 2017.
2. Dahia PL. Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity. Nat Rev Cancer. 2014;14(2):108-19.
3. Jimenez C, Libutti S, Landry C, Lloyd R, McKay R, Rohren E, et al. Adrenal- Neuroendocrine Tumors. In: Amin MB, Edge S, Greene F, Byrd DR, Brook- land RK, Washington MK, et al., editors. AJCC Cancer Staging Manual. 8 ed. New York: Springer; 2017. p. 919-27.
4. Fishbein L, Leshchiner I, Walter V, Danilova L, Robertson AG, Johnson AR, et al. Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma. Cancer Cell. 2017.
5. Roman-Gonzalez A, Jimenez C. Malignant pheochromocytoma-paraganglioma: pathogenesis, TNM staging, and current clinical trials. Curr Opin Endo- crinol Diabetes Obes. 2017.
6. Roman-Gonzalez A, Zhou S, Ayala-Ramirez M, Shen C, Waguespack SG, Habra MA, et al. Impact of Surgical Resection of the Primary Tumor on Overall Survival in Patients With Metastatic Pheochromocytoma or Sympathetic Paraganglioma. Ann Surg. 2017.
7. Roman-González A, Jiménez-Vásquez P, Hyde SM, Jessop A, Jimenez C. Management of Locally Advanced and Metastatic Pheochromocytoma and Paraganglioma. In: Electron K, editor. Management of Adrenal Masses in Children and Adults. 1: Springer International Publishing; 2016. p. 277-300.
8. Jimenez C, Waguespack S, Habra M, Busaidy N, Dadu R, Tamsen G, et al. Cabozantanib in patients with unresectable metastatic pheochromocytoma and paraganglioma. Global Academic Programs of Cancer Centers Symposium; Houston, Tx2017.
9. Jimenez C, Pryma DA, Sullivan DC, Schwarz JK, Noto RB, Stambler N, et al. Long Term Follow-up of a Pivotal Phase 2 Study of Ultratrace® Iobenguane I-131 (AZEDRATM) in Patients with Malignant Relapsed/Refractory Pheochromocytoma (Pheo)/Paraganglioma (Para). Endocrine Reviews. 2015;36(2):OR24-6.
10. Ayala-Ramirez M, Feng L, Johnson MM, Ejaz S, Habra MA, Rich T, 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):717-25.
11. Amar L, Baudin E, Burnichon N, Peyrard S, Silvera S, Bertherat J, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab. 2007;92(10):3822-8.
12. Waguespack SG, Rich T, Grubbs E, Ying AK, Perrier ND, Ayala-Ramirez M, et al. A current review of the etiology, diagnosis, and treatment of pediatric pheochromocytoma and paraganglioma. J Clin Endocrinol Metab. 2010;95(5):2023-37.
13. Cascón A, Pita G, Burnichon N, Landa I, López-Jiménez E, Montero-Conde C, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab. 2009;94(5):1701-5.
14. Thosani S, Ayala-Ramirez M, Palmer L, Hu MI, Rich T, Gagel RF, et al. The characterization of pheochromocytoma and its impact on overall survival in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab. 2013;98(11):E1813-9.
15. Rich TA, Jonasch E, Matin S, Waguespack SG, Gombos DS, Santarpia L, et al. A novel von Hippel-Lindau point mutation presents as apparently sporadic pheochromocytoma. Cancer Invest. 2008;26(6):642-6.
16. Jimenez C, Cabanillas ME, Santarpia L, Jonasch E, Kyle KL, Lano EA, et al. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel- Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. J Clin Endocrinol Metab. 2009;94(2):386-91.
17. Gruber LM, Erickson D, Babovic-Vuksanovic D, Thompson GB, Young WF, Bancos I. Pheochromocytoma and paraganglioma in patients with neurofibromatosis type 1. Clin Endocrinol (Oxf ). 2017;86(1):141-9.
18. Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. 2000;287(5454):848-51.
19. Baysal BE, Maher ER. 15 YEARS OF PARAGANGLIOMA: Genetics and mechanism of pheochromocytoma-paraganglioma syndromes characterized by germline SDHB and SDHD mutations. Endocr Relat Cancer. 2015;22(4):T71- 82.
20. Castro-Vega LJ, Lepoutre-Lussey C, Gimenez-Roqueplo AP, Favier J. Rethinking pheochromocytomas and paragangliomas from a genomic perspective. Oncogene. 2016;35(9):1080-9.
21. Pillai S, Gopalan V, Smith RA, Lam AK. Updates on the genetics and the clinical impacts on phaeochromocytoma and paraganglioma in the new era. Crit Rev Oncol Hematol. 2016;100:190-208.
22. Choueiri TK, Halabi S, Sanford BL, Hahn O, Michaelson MD, Walsh MK, et al. Cabozantinib Versus Sunitinib As Initial Targeted Therapy for Patients With Metastatic Renal Cell Carcinoma of Poor or Intermediate Risk: The Alliance A031203 CABOSUN Trial. Journal of Clinical Oncology 2016;Published online before print November 14, 2016
23. Hao Z, Sadek I. Sunitinib: the antiangiogenic effects and beyond. Onco Targets Ther. 2016;9:5495-505.
24. Jimenez C, Rohren E, Habra MA, Rich T, Jimenez P, Ayala-Ramirez M, et al. Current and future treatments for malignant pheochromocytoma and sympathetic paraganglioma. Curr Oncol Rep. 2013;15(4):356-71.
25. Baudin E, Habra MA, Deschamps F, Cote G, Dumont F, Cabanillas M, et al. Therapy of endocrine disease: treatment of malignant pheochromocytoma and paraganglioma. Eur J Endocrinol. 2014;171(3):R111-22.
26. Ayala-Ramirez M, Chougnet CN, Habra MA, Palmer JL, Leboulleux S, Cabanillas ME, et al. Treatment with sunitinib for patients with progressive metastatic pheochromocytomas and sympathetic paragangliomas. J Clin Endocrinol Metab. 2012;97(11):4040-50.
27. Yakes FM, Chen J, Tan J, Yamaguchi K, Shi Y, Yu P, et al. Cabozantinib (XL184), a novel MET and VEGFR2 inhibitor, simultaneously suppresses metastasis, angiogenesis, and tumor growth. Mol Cancer Ther. 2011;10(12):2298-308.
28. Gordon MS, Vogelzang NJ, Schoffski P, Daud A, Spira AI, O’Keeffe BA, et al. Activity of cabozantinib (XL184) in soft tissue and bone: Results of a phase II randomized discontinuation trial (RDT) in patients (pts) with advanced solid tumors. J Clin Oncol. 2011;29 (suppl; abstr 3010).
29. Barrett JA, Joyal JL, Hillier SM, Maresca KP, Femia FJ, Kronauge JF, et al. Comparison of high-specific-activity ultratrace 123/131I-MIBG and carrier- added 123/131I-MIBG on efficacy, pharmacokinetics, and tissue distribution. Cancer biotherapy & radiopharmaceuticals. 2010;25(3):299-308.
30. Coleman RE, Stubbs JB, Barrett JA, de la Guardia M, Lafrance N, Babich JW. Radiation dosimetry, pharmacokinetics, and safety of ultratrace Iobenguane I-131 in patients with malignant pheochromocytoma/paraganglioma or metastatic carcinoid. Cancer biotherapy & radiopharmaceuticals. 2009;24(4):469-75.
31. https://clinicaltrials.gov/ct2/show/NCT00874614
32. Bertani E, Fazio N, Botteri E, Chiappa A, Falconi M, Grana C, et al. Resection of the primary pancreatic neuroendocrine tumor in patients with unresectable liver metastases: possible indications for a multimodal approach. Surgery. 2014;155(4):607-14.
33. Capurso G, Bettini R, Rinzivillo M, Boninsegna L, Delle Fave G, Falconi M. Role of resection of the primary pancreatic neuroendocrine tumour only in patients with unresectable metastatic liver disease: a systematic review. Neuroendocrinology. 2011;93(4):223-9.
34. Dy BM, Strajina V, Cayo AK, Richards ML, Farley DR, Grant CS, et al. Surgical resection of synchronously metastatic adrenocortical cancer. Ann Surg Oncol. 2015;22(1):146-51.
35. Goffredo P, Sosa JA, Roman SA. Malignant pheochromocytoma and paraganglioma: a population level analysis of long-term survival over two decades. J Surg Oncol. 2013;107(6):659-64.
36. Strajina V, Dy BM, Farley DR, Richards ML, McKenzie TJ, Bible KC, et al. Surgical Treatment of Malignant Pheochromocytoma and Paraganglioma: Retrospective Case Series. Ann Surg Oncol. 2017.
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