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Trần, V. B., Nguyễn , D. M., & Lê, T. T. (2023). Cập nhật chẩn đoán và điều trị u cận hạch vùng đầu cổ. Tạp chí Tai Mũi Họng Việt Nam, 68(61), 41-57. https://doi.org/10.60137/tmhvn.v68i61.64
Cập nhật chẩn đoán và điều trị u cận hạch vùng đầu cổ
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Tóm tắt
Đặt vấn đề: Những phát hiện mới về di truyền và sinh bệnh học của u cận hạch đã làm thay đổi đáng kể chiến lược xử trí bệnh lý này. Mục tiêu: Chúng tôi tóm tắt những hiểu biết gần đây về mặt di truyền học phân tử và những khuyến cáo cập nhật về chẩn đoán, điều trị và quản lý bệnh nhân u cận hạch vùng đầu cổ. Phương pháp: Tìm kiếm các bài báo liên quan chủ đề nghiên cứu bằng công cụ PubMed. Thuật ngữ được sử dụng gồm: "paraganglioma", "glomus tumor", "head and neck", "genetics", "endocrinology", "investigation" and "treatment". Kết quả: u cận hạch vùng đầu cổ chủ yếu liên quan đến đột biến dòng mầm trong họ gen succinate dehydrogenase (SDHx), trong đó đột biến SDHD và SDHB làm tăng nguy cơ của bệnh lý đa khối u và ác tính. Xét nghiệm di truyền được khuyến cáo thực hiện cho tất cả bệnh nhân. Gallium 68 tetraazacyclododecane tetraacetic acid-octreotate có độ nhạy rất cao và được khuyến cáo là phương tiện chẩn đoán hình ảnh đầu tay ở những bệnh nhân có nguy cơ bị bệnh lý đa khối u và di căn, hoặc có chỉ định liệu pháp thụ thể peptid nhắm đích. Điều trị bảo tồn được ưu tiên nếu khối u nhỏ, không tiết catecholamine, và không gây triệu chứng, ngược lại, phẫu thuật lấy bỏ khối u được đặt ra. Xạ trị được chỉ định cho những khối u tái phát sau mổ và những khối u không tiết catecholamine nằm ở vị trí mà việc cắt bỏ có nguy cơ gây tổn thương nặng nề các cấu trúc mạch máu và thần kinh quan trọng. Liệu pháp phóng xạ trúng đích (theranostics) đang được chứng minh là một lựa chọn đầy hứa hẹn và khả thi cho những trường hợp di căn hoặc không thể phẫu thuật lấy bỏ khối u được. Bệnh nhân được xác định có đột biến gen succinate dehydrogenase cần được theo dõi lâu dài bằng các xét nghiệm sinh hoá và hình ảnh toàn thân. Kết luận: U cận hạch vùng đầu cổ là những khối u thần kinh nội tiết hiếm gặp, tiến triển chậm và thường liên quan đến đột biến dòng mầm trong họ gen succinate dehydrogenase. Những phát hiện gần đây về sinh bệnh học và tiến triển của u cận hạch đã làm thay đổi đáng kể chiến lược xử trí bệnh lý này. Bám sát các khuyến cáo cập nhật sẽ giúp ích cho các bác sĩ tai mũi họng trong chăm sóc và điều trị bệnh lý u cận hạch đạt được hiệu quả cao.
Chi tiết bài viết
Từ khóa
paraganglioma, glomus jugulare, glomus tympanicum, carotid body tumor, succinate dehydrogenase
Tài liệu tham khảo
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8. Gulya, A.J., The glomus tumor and its biology. Laryngoscope, 1993. 103(11 Pt 2 Suppl 60): p. 7-15.
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21. Thelen, J. and A.A. Bhatt, Multimodality imaging of paragangliomas of the head and neck. Insights Imaging, 2019. 10(1): p. 29.
22. Taieb, D., et al., European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging, 2019. 46(10): p. 2112-2137.
23. Ryder, S.J., et al., PET detectives: Molecular imaging for phaeochromocytomas and paragangliomas in the genomics era. Clin Endocrinol (Oxf), 2021. 95(1): p. 13-28.
24. Janssen, I., et al., 68Ga-DOTATATE PET/CT in the Localization of Head and Neck Paragangliomas Compared with Other Functional Imaging Modalities and CT/MRI. J Nucl Med, 2016. 57(2): p. 186-91.
25. Janssen, I., et al., Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma. Clin Cancer Res, 2015. 21(17): p. 3888-95.
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28. van Nederveen, F.H., et al., An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol, 2009. 10(8): p. 764-71.
29. Valero, C., I. Ganly, and J.P. Shah, Head and neck paragangliomas: 30-year experience. Head Neck, 2020. 42(9): p. 2486-2495.
30. Szymanska, A., et al., Diagnosis and management of multiple paragangliomas of the head and neck. Eur Arch Otorhinolaryngol, 2015. 272(8): p. 1991-9.
31. Myssiorek, D., et al., Screening for familial paragangliomas. Oral Oncol, 2008. 44(6): p. 532-7.
32. Capatina, C., et al., The management of head-and-neck paragangliomas. Endocr Relat Cancer, 2013. 20(5): p. R291-305.
33. Jackson, R.S., et al., The Effects of Preoperative Embolization on Carotid Body Paraganglioma Surgery: A Systematic Review and Meta-analysis. Otolaryngol Head Neck Surg, 2015. 153(6): p. 943-50.
34. Rijken, J.A., et al., Evolving management strategies in head and neck paragangliomas: A single-centre experience with 147 patients over a 60-year period. Clin Otolaryngol, 2019. 44(5): p. 836-841.
35. Lozano, F.S., et al., Simple and complex carotid paragangliomas. Three decades of experience and literature review. Head Neck, 2020. 42(12): p. 3538-3550.
36. Jansen, T.T.G., et al., A meta-analysis on the surgical management of paraganglioma of the carotid body per Shamblin class. Clin Otolaryngol, 2018. 43(4): p. 1104-1116.
37. Robertson, V., et al., A Systematic Review and Meta-Analysis of the Presentation and Surgical Management of Patients With Carotid Body Tumours. Eur J Vasc Endovasc Surg, 2019. 57(4): p. 477-486.
38. Shamblin, W.R., et al., Carotid body tumor (chemodectoma). Clinicopathologic analysis of ninety cases. Am J Surg, 1971. 122(6): p. 732-9.
39. Morton, R.P., et al., A role for ipsilateral, selective neck dissection in carotid body tumours. J Laryngol Otol, 2009. 123(8): p. 934-6.
40. Patnaik, U., et al., Long term surgical and hearing outcomes in the management of tympanomastoid paragangliomas. Am J Otolaryngol, 2015. 36(3): p. 382-9.
41. Makiese, O., et al., Jugular foramen paragangliomas: management, outcome and avoidance of complications in a series of 75 cases. Neurosurg Rev, 2012. 35(2): p. 185-94; discussion 194.
42. Suarez, C., et al., Jugular and vagal paragangliomas: Systematic study of management with surgery and radiotherapy. Head Neck, 2013. 35(8): p. 1195-204.
43. Huy, P.T., et al., Evolving concepts in the management of jugular paraganglioma: a comparison of radiotherapy and surgery in 88 cases. Skull Base, 2009. 19(1): p. 83-91.
44. Fayad, J.N., B. Keles, and D.E. Brackmann, Jugular foramen tumors: clinical characteristics and treatment outcomes. Otol Neurotol, 2010. 31(2): p. 299-305.
45. Jansen, T.T.G., et al., Surgery, radiotherapy or a combined modality for jugulotympanic paraganglioma of Fisch class C and D. Clin Otolaryngol, 2018. 43(6): p. 1566-1572.
46. Hinerman, R.W., et al., Definitive radiotherapy in the management of paragangliomas arising in the head and neck: a 35-year experience. Head Neck, 2008. 30(11): p. 1431-8.
47. Ivan, M.E., et al., A meta-analysis of tumor control rates and treatment-related morbidity for patients with glomus jugulare tumors. J Neurosurg, 2011. 114(5): p. 1299-305.
48. Gilbo, P., et al., Radiotherapy for benign head and neck paragangliomas: a 45-year experience. Cancer, 2014. 120(23): p. 3738-43.
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2. Carty, S.E. and W.F. Young, Paragangliomas: Epidemiology, clinical presentation, diagnosis, and histology, in Uptodate, P.Y. Wen, et al., Editors. 2018. Available from: https://www.uptodate.com/contents/paragangliomas-epidemiology-clinical-presentation-diagnosis-and-histology.
3. Williams, M.D., Paragangliomas of the Head and Neck: An Overview from Diagnosis to Genetics. Head Neck Pathol, 2017. 11(3): p. 278-287.
4. Cass, N.D., et al., The Changing Paradigm of Head and Neck Paragangliomas: What Every Otolaryngologist Needs to Know. Ann Otol Rhinol Laryngol, 2020. 129(11): p. 1135-1143.
5. Lin, E.P., et al., Head and Neck Paragangliomas: An Update on the Molecular Classification, State-of-the-Art Imaging, and Management Recommendations. Radiol Imaging Cancer, 2022. 4(3): p. e210088.
6. Cleere, E.F., et al., Contemporary management of paragangliomas of the head and neck. Laryngoscope Investig Otolaryngol, 2022. 7(1): p. 93-107.
7. Rao, A.B., K.K. Koeller, and C.F. Adair, From the archives of the AFIP. Paragangliomas of the head and neck: radiologic-pathologic correlation. Armed Forces Institute of Pathology. Radiographics, 1999. 19(6): p. 1605-32.
8. Gulya, A.J., The glomus tumor and its biology. Laryngoscope, 1993. 103(11 Pt 2 Suppl 60): p. 7-15.
9. Harrison, L. and R. Corbridge, Active surveillance management of head and neck paragangliomas: case series and review of the literature. J Laryngol Otol, 2017. 131(7): p. 580-584.
10. Papathomas, T.G., et al., SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T). Mod Pathol, 2015. 28(6): p. 807-21.
11. Lenders, J.W., et al., Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. J Clin Endocrinol Metab, 2014. 99(6): p. 1915-42.
12. Lloyd, S., et al., British Skull Base Society Clinical Consensus Document on Management of Head and Neck Paragangliomas. Otolaryngol Head Neck Surg, 2020. 163(3): p. 400-409.
13. Smith, J.D., et al., Head and neck paragangliomas: A two-decade institutional experience and algorithm for management. Laryngoscope Investig Otolaryngol, 2017. 2(6): p. 380-389.
14. Neumann, H.P.H., W.F. Young, Jr., and C. Eng, Pheochromocytoma and Paraganglioma. N Engl J Med, 2019. 381(6): p. 552-565.
15. Taieb, D. and K. Pacak, New Insights into the Nuclear Imaging Phenotypes of Cluster 1 Pheochromocytoma and Paraganglioma. Trends Endocrinol Metab, 2017. 28(11): p. 807-817.
16. Galan, S.R. and P.H. Kann, Genetics and molecular pathogenesis of pheochromocytoma and paraganglioma. Clin Endocrinol (Oxf), 2013. 78(2): p. 165-75.
17. Boedeker, C.C., et al., Genetics of hereditary head and neck paragangliomas. Head Neck, 2014. 36(6): p. 907-16.
18. Carty, S.E., W.F. Young, and K. Oh, Paragangliomas: Treatment of locoregional disease, in Uptodate, P.Y. wen, et al., Editors. 2018. Available from: https://www.uptodate.com/contents/paragangliomas-treatment-of-locoregional-disease.
19. Lenders, J.W., et al., Biochemical diagnosis of pheochromocytoma: which test is best? JAMA, 2002. 287(11): p. 1427-34.
20. Taieb, D., et al., Current approaches and recent developments in the management of head and neck paragangliomas. Endocr Rev, 2014. 35(5): p. 795-819.
21. Thelen, J. and A.A. Bhatt, Multimodality imaging of paragangliomas of the head and neck. Insights Imaging, 2019. 10(1): p. 29.
22. Taieb, D., et al., European Association of Nuclear Medicine Practice Guideline/Society of Nuclear Medicine and Molecular Imaging Procedure Standard 2019 for radionuclide imaging of phaeochromocytoma and paraganglioma. Eur J Nucl Med Mol Imaging, 2019. 46(10): p. 2112-2137.
23. Ryder, S.J., et al., PET detectives: Molecular imaging for phaeochromocytomas and paragangliomas in the genomics era. Clin Endocrinol (Oxf), 2021. 95(1): p. 13-28.
24. Janssen, I., et al., 68Ga-DOTATATE PET/CT in the Localization of Head and Neck Paragangliomas Compared with Other Functional Imaging Modalities and CT/MRI. J Nucl Med, 2016. 57(2): p. 186-91.
25. Janssen, I., et al., Superiority of [68Ga]-DOTATATE PET/CT to Other Functional Imaging Modalities in the Localization of SDHB-Associated Metastatic Pheochromocytoma and Paraganglioma. Clin Cancer Res, 2015. 21(17): p. 3888-95.
26. Chang, C.A., et al., (68)Ga-DOTATATE and (18)F-FDG PET/CT in Paraganglioma and Pheochromocytoma: utility, patterns and heterogeneity. Cancer Imaging, 2016. 16(1): p. 22.
27. Lenders, J.W.M., et al., Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma: a position statement and consensus of the Working Group on Endocrine Hypertension of the European Society of Hypertension. J Hypertens, 2020. 38(8): p. 1443-1456.
28. van Nederveen, F.H., et al., An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol, 2009. 10(8): p. 764-71.
29. Valero, C., I. Ganly, and J.P. Shah, Head and neck paragangliomas: 30-year experience. Head Neck, 2020. 42(9): p. 2486-2495.
30. Szymanska, A., et al., Diagnosis and management of multiple paragangliomas of the head and neck. Eur Arch Otorhinolaryngol, 2015. 272(8): p. 1991-9.
31. Myssiorek, D., et al., Screening for familial paragangliomas. Oral Oncol, 2008. 44(6): p. 532-7.
32. Capatina, C., et al., The management of head-and-neck paragangliomas. Endocr Relat Cancer, 2013. 20(5): p. R291-305.
33. Jackson, R.S., et al., The Effects of Preoperative Embolization on Carotid Body Paraganglioma Surgery: A Systematic Review and Meta-analysis. Otolaryngol Head Neck Surg, 2015. 153(6): p. 943-50.
34. Rijken, J.A., et al., Evolving management strategies in head and neck paragangliomas: A single-centre experience with 147 patients over a 60-year period. Clin Otolaryngol, 2019. 44(5): p. 836-841.
35. Lozano, F.S., et al., Simple and complex carotid paragangliomas. Three decades of experience and literature review. Head Neck, 2020. 42(12): p. 3538-3550.
36. Jansen, T.T.G., et al., A meta-analysis on the surgical management of paraganglioma of the carotid body per Shamblin class. Clin Otolaryngol, 2018. 43(4): p. 1104-1116.
37. Robertson, V., et al., A Systematic Review and Meta-Analysis of the Presentation and Surgical Management of Patients With Carotid Body Tumours. Eur J Vasc Endovasc Surg, 2019. 57(4): p. 477-486.
38. Shamblin, W.R., et al., Carotid body tumor (chemodectoma). Clinicopathologic analysis of ninety cases. Am J Surg, 1971. 122(6): p. 732-9.
39. Morton, R.P., et al., A role for ipsilateral, selective neck dissection in carotid body tumours. J Laryngol Otol, 2009. 123(8): p. 934-6.
40. Patnaik, U., et al., Long term surgical and hearing outcomes in the management of tympanomastoid paragangliomas. Am J Otolaryngol, 2015. 36(3): p. 382-9.
41. Makiese, O., et al., Jugular foramen paragangliomas: management, outcome and avoidance of complications in a series of 75 cases. Neurosurg Rev, 2012. 35(2): p. 185-94; discussion 194.
42. Suarez, C., et al., Jugular and vagal paragangliomas: Systematic study of management with surgery and radiotherapy. Head Neck, 2013. 35(8): p. 1195-204.
43. Huy, P.T., et al., Evolving concepts in the management of jugular paraganglioma: a comparison of radiotherapy and surgery in 88 cases. Skull Base, 2009. 19(1): p. 83-91.
44. Fayad, J.N., B. Keles, and D.E. Brackmann, Jugular foramen tumors: clinical characteristics and treatment outcomes. Otol Neurotol, 2010. 31(2): p. 299-305.
45. Jansen, T.T.G., et al., Surgery, radiotherapy or a combined modality for jugulotympanic paraganglioma of Fisch class C and D. Clin Otolaryngol, 2018. 43(6): p. 1566-1572.
46. Hinerman, R.W., et al., Definitive radiotherapy in the management of paragangliomas arising in the head and neck: a 35-year experience. Head Neck, 2008. 30(11): p. 1431-8.
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