Research progress in treatment of primary hyperparathyroidism in multiple endocrine neoplasm type 1_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

XU Tianfeng , ZHENG Xun ,  WEI Tao

Department of Thyroid and Parathyroid Surgery, West China Hospital, Sichuan University, Chengdu 610041, P. R. China;

Corresponding author：

WEI Tao, Email: surgeonwei@163.com

Keywords：

multiple endocrine neoplasm type 1; primary hyperparathyroidism; surgical treatment

DOI：

10.7507/1007-9424.202204020

Video：

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Objective To summarize the research progress of the treatment of primary hyperparathyroidism (PHPT) in multiple endocrine neoplasm type 1 (MEN1). Method The literature about the treatment of PHPT in MEN1 in recent years was reviewed. Results When the symptoms of MEN1 related PHPT were obvious, surgery was an effective treatment. In addition to conventional total parathyroidectomy with autotransplantation and subtotal parathyroidectomy, less-than subtotal parathyroidectomy, and single gland excision had also been proved to be effective recently. Conclusions Combining the clinical manifestations with the actual involvement of the parathyroid of MEN1 related PHPT patients, personalized selection of appropriate timing and methods of parathyroidectomy can help MEN1 related PHPT patients obtain ideal parathyroid function and ensure the quality of life to the greatest extent.

Citation： XU Tianfeng, ZHENG Xun, WEI Tao. Research progress in treatment of primary hyperparathyroidism in multiple endocrine neoplasm type 1. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2022, 29(10): 1383-1389. doi: 10.7507/1007-9424.202204020 Copy

1.	McDonnell JE, Gild ML, Clifton-Bligh RJ, et al. Multiple endocrine neoplasia: an update. Intern Med J, 2019, 49(8): 954-961.
2.	Li JWY, Hua X, Reidy-Lagunes D, et al. MENIN loss as a tissue-specific driver of tumorigenesis. Mol Cell Endocrinol, 2018, 469: 98-106.
3.	Thompson R, Landry CS. Multiple endocrine neoplasia 1: a broad overview. Ther Adv Chronic Dis, 2021, 12: 20406223211035288. doi: 10.1177/20406223211035288.
4.	Lassen T, Friis-Hansen L, Rasmussen AK, et al. Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? J Clin Endocrinol Metab, 2014, 99(11): 3983-3987.
5.	Mele C, Mencarelli M, Caputo M, et al. Phenotypes associated with MEN1 syndrome: s focus on genotype-phenotype correlations. Front Endocrinol (Lausanne), 2020, 11: 591501. doi: 10.3389/fendo.2020.591501.
6.	Lines KE, Nachtigall LB, Dichtel LE, et al. Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a cell cycle division 73 (CDC73) variant. J Endocr Soc, 2020, 4(11): bvaa142. doi: 10.1210/jendso/bvaa142.
7.	De Sousa SMC, Carroll RW, Henderson A, et al. A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes. Endocrine, 2022, 75(1): 23-32.
8.	Di Meo G, Sgaramella LI, Ferraro V, et al. Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review. Clin Exp Med, 2018, 18(4): 585-593.
9.	Song A, Yang Y, Liu S, et al. Prevalence of parathyroid carcinoma and atypical parathyroid neoplasms in 153 patients with multiple endocrine neoplasia type 1: case series and literature review. Front Endocrinol (Lausanne), 2020, 11: 557050. doi: 10.3389/fendo.2020.557050.
10.	Giusti F, Cianferotti L, Gronchi G, et al. Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to multiple endocrine neoplasia syndrome type 1 (MEN1). Endocrine, 2016, 52(3): 495-506.
11.	Marini F, Giusti F, Cioppi F, et al. Bone and mineral metabolism phenotypes in MEN1-related and sporadic primary hyperparathyroidism, before and after parathyroidectomy. Cells, 2021, 10(8): 1895. doi: 10.3390/cells10081895.
12.	Tonelli F, Marini F, Giusti F, et al. Total and subtotal parathyroidectomy in young patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: Potential post-surgical benefits and complications. Front Endocrinol (Lausanne), 2018, 9: 558. doi: 10.3389/fendo.2018.00558.
13.	Kamilaris CDC, Stratakis CA. Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis. Front Endocrinol (Lausanne), 2019, 10: 339. doi: 10.3389/fendo.2019.00339.
14.	Agarwal SK. The future: genetics advances in MEN1 therapeutic approaches and management strategies. Endocr Relat Cancer, 2017, 24(10): T119-T134. doi: 10.1530/ERC-17-0199.
15.	Falchetti A. Genetics of multiple endocrine neoplasia type 1 syndrome: what’s new and what’s old. F1000Res, 2017, 6: F1000 Faculty Rev-73.1000v-1073v. doi: 10.12688/f1000research.7230.1.
16.	Perrier ND. From initial description by wermer to present-day MEN1: what have we learned? World J Surg, 2018, 42(4): 1031-1035.
17.	Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1 336 mutations reported in the first decade following identification of the gene. Hum Mutat, 2008, 29(1): 22-32.
18.	de Laat JM, van Leeuwaarde RS, Valk GD. The importance of an early and accurate MEN1 diagnosis. Front Endocrinol (Lausanne), 2018, 9: 533. doi: 10.3389/fendo.2018.00533.
19.	van den Broek MFM, van Nesselrooij BPM, Pieterman CRC, et al. Clues for genetic anticipation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab, 2020, 105(7): dgaa257. doi: 10.1210/clinem/dgaa257.
20.	Manoharan J, Raue F, Lopez CL, et al. Is routine screening of young asymptomatic MEN1 patients necessary? . World J Surg, 2017, 41(8): 2026-2032.
21.	朱信心, 魏涛, 龚日祥, 等. 136例原发性甲状旁腺功能亢进的诊治体会. 中国普外基础与临床杂志, 2014, 21(4): 452-457.
22.	Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab, 2012, 97(9): 2990-3011.
23.	Shirali AS, Pieterman CRC, Lewis MA, et al. It’s not a mystery, it’s in the history: multidisciplinary management of multiple endocrine neoplasia type 1. CA Cancer J Clin, 2021, 71(5): 369-380.
24.	Marini F, Giusti F, Tonelli F, et al. When parathyroidectomy should be indicated or postponed in adolescents with men1-related primary hyperparathyroidism. Front Endocrinol (Lausanne), 2018, 9: 597. doi: 10.3389/fendo.2018.00597.
25.	王培松, 陈光. 2016年美国内分泌外科医师协会原发性甲状旁腺功能亢进症管理指南解读. 中国实用外科杂志, 2016, 36(11): 1175-1179.
26.	樊友本, 孙滨, 邓先兆, 等. 原发性甲状旁腺功能亢进的诊治难点及策略. 中国普外基础与临床杂志, 2017, 24(10): 1186-1190.
27.	Boccalatte LA, Higuera F, Gómez NL, et al. Usefulness of ¹⁸F-fluorocholine positron emission tomography-computed tomography in locating lesions in hyperparathyroidism: s systematic review. JAMA Otolaryngol Head Neck Surg, 2019, 145(8): 743-750.
28.	Gauthé M, Dierick-Gallet A, Delbot T, et al. ¹⁸F-fluorocholine PET/CT in MEN1 patients with primary hyperparathyroidism. World J Surg, 2020, 44(11): 3761-3769.
29.	Talbot JN, Zhang-Yin J, Kerrou K, et al. Multiple endocrine neoplasia type 1 or 4: detection of hyperfunctioning parathyroid glands with ¹⁸F-fluorocholine PET/CT. Illustrative cases and pitfalls. Q J Nucl Med Mol Imaging, 2022, 66(2): 130-140.
30.	Kim SJ, Lee SW, Jeong SY, et al. Diagnostic performance of F-18 fluorocholine PET/CT for parathyroid localization in hyperparathyroidism: a systematic review and meta-analysis. Horm Cancer, 2018, 9(6): 440-447.
31.	Squires MH, Shirley LA, Shen C, et al. Intraoperative autofluorescence parathyroid identification in patients with multiple endocrine neoplasia type 1. JAMA Otolaryngol Head Neck Surg, 2019, 145(10): 897-902.
32.	Aoyama M, Takizawa H, Yamamoto K, et al. Effects of excitation light intensity on parathyroid autofluorescence with a novel near-infrared fluorescence imaging system: two surgical case reports. Gland Surg, 2020, 9(5): 1584-1589.
33.	Choi HR, Choi SH, Choi SM, et al. Benefit of diverse surgical approach on short-term outcomes of MEN1-related hyperparathyroidism. Sci Rep, 2020, 10(1): 10634. doi: 10.1038/s41598-020-67424-5.
34.	Montenegro FLM, Brescia MDG, Lourenço DM Jr, et al. Could the less-than subtotal parathyroidectomy be an option for treating young patients with multiple endocrine neoplasia type 1-related hyperparathyroidism? . Front Endocrinol (Lausanne), 2019, 10: 123. doi: 10.3389/fendo.2019.00123.
35.	Manoharan J, Albers MB, Bollmann C, et al. Single gland excision for MEN1-associated primary hyperparathyroidism. Clin Endocrinol (Oxf), 2020, 92(1): 63-70.
36.	Nastos C, Papaconstantinou D, Kofopoulos-Lymperis E, et al. Optimal extent of initial parathyroid resection in patients with multiple endocrine neoplasia syndrome type 1: a meta-analysis. Surgery, 2021, 169(2): 302-310.
37.	Wilhelm SM, Wang TS, Ruan DT, et al. The American Association of Endocrine Surgeons Guidelines for definitive management of primary hyperparathyroidism. JAMA Surg, 2016, 151(10): 959-968.
38.	Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol, 2021, 17(4): 207-224.
39.	Shariq OA, Lines KE, English KA, et al. Multiple endocrine neoplasia type 1 in children and adolescents: clinical features and treatment outcomes. Surgery, 2022, 171(1): 77-87.
40.	Nilubol N, Weinstein LS, Simonds WF, et al. Limited parathyroidectomy in multiple endocrine neoplasia type 1-associated primary hyperparathyroidism: a setup for failure. Ann Surg Oncol, 2016, 23(2): 416-423.
41.	Brandi ML, Agarwal SK, Perrier ND, et al. Multiple endocrine neoplasia type 1: latest insights. Endocr Rev, 2021, 42(2): 133-170.
42.	Waldmann J, López CL, Langer P, et al. Surgery for multiple endocrine neoplasia type 1-associated primary hyperparathyroidism. Br J Surg, 2010, 97(10): 1528-1534.
43.	中华医学会外科学分会甲状腺及代谢外科学组, 中国研究型医院学会甲状旁腺及骨代谢疾病专业委员会. 原发性甲状旁腺功能亢进症围手术期处理中国专家共识(2020版). 中国实用外科杂志, 2020, 40(6): 634-638.
44.	Horiuchi K, Sakurai M, Haniu K, et al. Impact of “tailored” parathyroidectomy for treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1. World J Surg, 2018, 42(6): 1772-1778.
45.	Geslot A, Vialon M, Caron P, et al. New therapies for patients with multiple endocrine neoplasia type 1. Ann Endocrinol (Paris), 2021, 82(2): 112-120.
46.	崔铭, 廖泉. 原发性甲状旁腺功能亢进症诊疗模式的转变. 中国普外基础与临床杂志, 2020, 27(10): 1189-1191.

1. McDonnell JE, Gild ML, Clifton-Bligh RJ, et al. Multiple endocrine neoplasia: an update. Intern Med J, 2019, 49(8): 954-961.
2. Li JWY, Hua X, Reidy-Lagunes D, et al. MENIN loss as a tissue-specific driver of tumorigenesis. Mol Cell Endocrinol, 2018, 469: 98-106.
3. Thompson R, Landry CS. Multiple endocrine neoplasia 1: a broad overview. Ther Adv Chronic Dis, 2021, 12: 20406223211035288. doi: 10.1177/20406223211035288.
4. Lassen T, Friis-Hansen L, Rasmussen AK, et al. Primary hyperparathyroidism in young people. When should we perform genetic testing for multiple endocrine neoplasia 1 (MEN-1)? J Clin Endocrinol Metab, 2014, 99(11): 3983-3987.
5. Mele C, Mencarelli M, Caputo M, et al. Phenotypes associated with MEN1 syndrome: s focus on genotype-phenotype correlations. Front Endocrinol (Lausanne), 2020, 11: 591501. doi: 10.3389/fendo.2020.591501.
6. Lines KE, Nachtigall LB, Dichtel LE, et al. Multiple endocrine neoplasia type 1 (MEN1) phenocopy due to a cell cycle division 73 (CDC73) variant. J Endocr Soc, 2020, 4(11): bvaa142. doi: 10.1210/jendso/bvaa142.
7. De Sousa SMC, Carroll RW, Henderson A, et al. A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes. Endocrine, 2022, 75(1): 23-32.
8. Di Meo G, Sgaramella LI, Ferraro V, et al. Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review. Clin Exp Med, 2018, 18(4): 585-593.
9. Song A, Yang Y, Liu S, et al. Prevalence of parathyroid carcinoma and atypical parathyroid neoplasms in 153 patients with multiple endocrine neoplasia type 1: case series and literature review. Front Endocrinol (Lausanne), 2020, 11: 557050. doi: 10.3389/fendo.2020.557050.
10. Giusti F, Cianferotti L, Gronchi G, et al. Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to multiple endocrine neoplasia syndrome type 1 (MEN1). Endocrine, 2016, 52(3): 495-506.
11. Marini F, Giusti F, Cioppi F, et al. Bone and mineral metabolism phenotypes in MEN1-related and sporadic primary hyperparathyroidism, before and after parathyroidectomy. Cells, 2021, 10(8): 1895. doi: 10.3390/cells10081895.
12. Tonelli F, Marini F, Giusti F, et al. Total and subtotal parathyroidectomy in young patients with multiple endocrine neoplasia type 1-related primary hyperparathyroidism: Potential post-surgical benefits and complications. Front Endocrinol (Lausanne), 2018, 9: 558. doi: 10.3389/fendo.2018.00558.
13. Kamilaris CDC, Stratakis CA. Multiple endocrine neoplasia type 1 (MEN1): an update and the significance of early genetic and clinical diagnosis. Front Endocrinol (Lausanne), 2019, 10: 339. doi: 10.3389/fendo.2019.00339.
14. Agarwal SK. The future: genetics advances in MEN1 therapeutic approaches and management strategies. Endocr Relat Cancer, 2017, 24(10): T119-T134. doi: 10.1530/ERC-17-0199.
15. Falchetti A. Genetics of multiple endocrine neoplasia type 1 syndrome: what’s new and what’s old. F1000Res, 2017, 6: F1000 Faculty Rev-73.1000v-1073v. doi: 10.12688/f1000research.7230.1.
16. Perrier ND. From initial description by wermer to present-day MEN1: what have we learned? World J Surg, 2018, 42(4): 1031-1035.
17. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1 336 mutations reported in the first decade following identification of the gene. Hum Mutat, 2008, 29(1): 22-32.
18. de Laat JM, van Leeuwaarde RS, Valk GD. The importance of an early and accurate MEN1 diagnosis. Front Endocrinol (Lausanne), 2018, 9: 533. doi: 10.3389/fendo.2018.00533.
19. van den Broek MFM, van Nesselrooij BPM, Pieterman CRC, et al. Clues for genetic anticipation in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab, 2020, 105(7): dgaa257. doi: 10.1210/clinem/dgaa257.
20. Manoharan J, Raue F, Lopez CL, et al. Is routine screening of young asymptomatic MEN1 patients necessary? . World J Surg, 2017, 41(8): 2026-2032.
21. 朱信心, 魏涛, 龚日祥, 等. 136例原发性甲状旁腺功能亢进的诊治体会. 中国普外基础与临床杂志, 2014, 21(4): 452-457.
22. Thakker RV, Newey PJ, Walls GV, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab, 2012, 97(9): 2990-3011.
23. Shirali AS, Pieterman CRC, Lewis MA, et al. It’s not a mystery, it’s in the history: multidisciplinary management of multiple endocrine neoplasia type 1. CA Cancer J Clin, 2021, 71(5): 369-380.
24. Marini F, Giusti F, Tonelli F, et al. When parathyroidectomy should be indicated or postponed in adolescents with men1-related primary hyperparathyroidism. Front Endocrinol (Lausanne), 2018, 9: 597. doi: 10.3389/fendo.2018.00597.
25. 王培松, 陈光. 2016年美国内分泌外科医师协会原发性甲状旁腺功能亢进症管理指南解读. 中国实用外科杂志, 2016, 36(11): 1175-1179.
26. 樊友本, 孙滨, 邓先兆, 等. 原发性甲状旁腺功能亢进的诊治难点及策略. 中国普外基础与临床杂志, 2017, 24(10): 1186-1190.
27. Boccalatte LA, Higuera F, Gómez NL, et al. Usefulness of ¹⁸F-fluorocholine positron emission tomography-computed tomography in locating lesions in hyperparathyroidism: s systematic review. JAMA Otolaryngol Head Neck Surg, 2019, 145(8): 743-750.
28. Gauthé M, Dierick-Gallet A, Delbot T, et al. ¹⁸F-fluorocholine PET/CT in MEN1 patients with primary hyperparathyroidism. World J Surg, 2020, 44(11): 3761-3769.
29. Talbot JN, Zhang-Yin J, Kerrou K, et al. Multiple endocrine neoplasia type 1 or 4: detection of hyperfunctioning parathyroid glands with ¹⁸F-fluorocholine PET/CT. Illustrative cases and pitfalls. Q J Nucl Med Mol Imaging, 2022, 66(2): 130-140.
30. Kim SJ, Lee SW, Jeong SY, et al. Diagnostic performance of F-18 fluorocholine PET/CT for parathyroid localization in hyperparathyroidism: a systematic review and meta-analysis. Horm Cancer, 2018, 9(6): 440-447.
31. Squires MH, Shirley LA, Shen C, et al. Intraoperative autofluorescence parathyroid identification in patients with multiple endocrine neoplasia type 1. JAMA Otolaryngol Head Neck Surg, 2019, 145(10): 897-902.
32. Aoyama M, Takizawa H, Yamamoto K, et al. Effects of excitation light intensity on parathyroid autofluorescence with a novel near-infrared fluorescence imaging system: two surgical case reports. Gland Surg, 2020, 9(5): 1584-1589.
33. Choi HR, Choi SH, Choi SM, et al. Benefit of diverse surgical approach on short-term outcomes of MEN1-related hyperparathyroidism. Sci Rep, 2020, 10(1): 10634. doi: 10.1038/s41598-020-67424-5.
34. Montenegro FLM, Brescia MDG, Lourenço DM Jr, et al. Could the less-than subtotal parathyroidectomy be an option for treating young patients with multiple endocrine neoplasia type 1-related hyperparathyroidism? . Front Endocrinol (Lausanne), 2019, 10: 123. doi: 10.3389/fendo.2019.00123.
35. Manoharan J, Albers MB, Bollmann C, et al. Single gland excision for MEN1-associated primary hyperparathyroidism. Clin Endocrinol (Oxf), 2020, 92(1): 63-70.
36. Nastos C, Papaconstantinou D, Kofopoulos-Lymperis E, et al. Optimal extent of initial parathyroid resection in patients with multiple endocrine neoplasia syndrome type 1: a meta-analysis. Surgery, 2021, 169(2): 302-310.
37. Wilhelm SM, Wang TS, Ruan DT, et al. The American Association of Endocrine Surgeons Guidelines for definitive management of primary hyperparathyroidism. JAMA Surg, 2016, 151(10): 959-968.
38. Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol, 2021, 17(4): 207-224.
39. Shariq OA, Lines KE, English KA, et al. Multiple endocrine neoplasia type 1 in children and adolescents: clinical features and treatment outcomes. Surgery, 2022, 171(1): 77-87.
40. Nilubol N, Weinstein LS, Simonds WF, et al. Limited parathyroidectomy in multiple endocrine neoplasia type 1-associated primary hyperparathyroidism: a setup for failure. Ann Surg Oncol, 2016, 23(2): 416-423.
41. Brandi ML, Agarwal SK, Perrier ND, et al. Multiple endocrine neoplasia type 1: latest insights. Endocr Rev, 2021, 42(2): 133-170.
42. Waldmann J, López CL, Langer P, et al. Surgery for multiple endocrine neoplasia type 1-associated primary hyperparathyroidism. Br J Surg, 2010, 97(10): 1528-1534.
43. 中华医学会外科学分会甲状腺及代谢外科学组, 中国研究型医院学会甲状旁腺及骨代谢疾病专业委员会. 原发性甲状旁腺功能亢进症围手术期处理中国专家共识(2020版). 中国实用外科杂志, 2020, 40(6): 634-638.
44. Horiuchi K, Sakurai M, Haniu K, et al. Impact of “tailored” parathyroidectomy for treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 1. World J Surg, 2018, 42(6): 1772-1778.
45. Geslot A, Vialon M, Caron P, et al. New therapies for patients with multiple endocrine neoplasia type 1. Ann Endocrinol (Paris), 2021, 82(2): 112-120.
46. 崔铭, 廖泉. 原发性甲状旁腺功能亢进症诊疗模式的转变. 中国普外基础与临床杂志, 2020, 27(10): 1189-1191.

CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Research progress in treatment of primary hyperparathyroidism in multiple endocrine neoplasm type 1

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