Non-classical manifestation of multiple endocrine neoplasia type 1
E. E. Bibik,
L. A. Aboishava,
A. S. Matyushkina,
A. K. Eremkina,
M. V. Degtyarev,
N. M. Platonova,
E. A. Troshina,
N. G. Mokrysheva https://doi.org/10.14341/serg12815
Abstract
Multiple endocrine neoplasia type 1 (MEN-1) is the orphan disease caused by the metachronous tumors of endocrine and non–endocrine organs. The first most frequent feature of the syndrome is primary hyperparathyroidism, however, manifestation from other components is also possible. Different medical specialists should know about this pathology because its clinical course is often varied.
This clinical case of non-classical manifestation of MEN-1 demonstrates the difficulties of diagnostics, comprehensive examination and treatment of the main components of the syndrome. Timely laboratory, instrumental and genetic diagnostics plays an important role in the prevention of complications, improving the quality of life and prognosis of patients.
About the Authors
E. E. Bibik
Endocrinology Research Centre
Russian Federation
Russian Federation
Ekaterina E. Bibik, MD, PhD
11 Dm. Ulyanova street, Moscow, 117036
L. A. Aboishava
Endocrinology Research Centre
Russian Federation
Russian Federation
Lizaveta A. Aboishava, MD
Moscow
A. S. Matyushkina
Endocrinology Research Centre
Russian Federation
Russian Federation
Anna S. Matyushkina
Moscow
A. K. Eremkina
Endocrinology Research Centre
Anna K. Eremkina, MD, PhD
Moscow
M. V. Degtyarev
Endocrinology Research Centre
Russian Federation
Russian Federation
Mikhail V. Degtyarev, MD
Moscow
N. M. Platonova
Endocrinology Research Centre
Russian Federation
Russian Federation
Nadezhda M. Platonova, MD, PhD
Moscow
E. A. Troshina
Endocrinology Research Centre
Russian Federation
Russian Federation
Ekaterina A. Troshina, MD, PhD
Moscow
N. G. Mokrysheva
Endocrinology Research Centre
Russian Federation
Russian Federation
Natalia G. Mokrysheva, MD, PhD, Professor
Moscow
References
1. Thakker RV. Multiple endocrine neoplasia type 1. In: Principles of Molecular Medicine. Totowa, NJ: Humana Press; 1967. Vol 290. P. 386-392. doi: https://doi.org/10.1007/978-1-59259-963-9_39
2. 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). doi: https://doi.org/10.3389/fendo.2019.00339
3. Wasserman JD, Tomlinson GE, Druker H, et al. Multiple endocrine neoplasia and hyperparathyroid-jaw tumor syndromes: Clinical features, genetics, and surveillance recommendations in childhood. Clin cancer Res an Off J Am Assoc Cancer Res. 2017;23(13):e123-e132. doi: https://doi.org/10.1158/1078-0432.CCR-17-0548
4. Matkar S, Thiel A, Hua X. Menin: a scaffold protein that controls gene expression and cell signaling. Trends Biochem Sci. 2013;38(8):394-402. doi: https://doi.org/10.1016/j.tibs.2013.05.005
5. Pannett AA, Thakker RV. Multiple endocrine neoplasia type 1. Endocr Relat Cancer. 1999;6(4):449-473. doi: https://doi.org/10.1677/erc.0.0060449
6. Trump D, Farren B, Wooding C, et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM. 1996;89(9):653-669. doi: https://doi.org/10.1093/qjmed/89.9.653
7. Adami S, Marcocci C, Gatti D. Epidemiology of primary hyperparathyroidism in Europe. J bone Miner Res Off J Am Soc Bone Miner Res. 2002;17(S2):N18-23.
8. Ito T, Igarashi H, Uehara H, et al. Causes of death and prognostic factors in multiple endocrine neoplasia type 1: a prospective study: comparison of 106 MEN1/Zollinger-Ellison syndrome patients with 1613 literature MEN1 patients with or without pancreatic endocrine tumors. Medicine (Baltimore). 2013;92(3):135-181. doi: https://doi.org/10.1097/MD.0b013e3182954af1
9. Brandi ML, Agarwal SK, Perrier ND, et al. Multiple endocrine neoplasia type 1: Latest insights. Endocr Rev. 2021;42(2):133-170. doi: https://doi.org/10.1210/endrev/bnaa031
10. Lloyd R, Osamura R, Klöppel G, Rosai J. WHO Classification of Tumours of Endocrine Organs. 4th ed. International Agency for Research on Cancer; 2017.
11. van Beek DJ, Nell S, Verkooijen HM, et al. Prognosis after surgery for multiple endocrine neoplasia type 1-related pancreatic neuroendocrine tumors: Functionality matters. Surgery. 2021;169(4):963-973. doi: https://doi.org/10.1016/j.surg.2020.09.037
12. Pieterman CRC, Valk GD. Update on the clinical management of multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2022;97(4):409-423. doi: https://doi.org/10.1111/cen.14727
13. Cohen-Cohen S, Brown DA, Himes BT, et al. Pituitary adenomas in the setting of multiple endocrine neoplasia type 1: a singleinstitution experience. J Neurosurg. 2020;134(3):1132-1138. doi: https://doi.org/10.3171/2020.1.JNS193538
14. Newey PJ, Newell-Price J. MEN1 Surveillance Guidelines: Time to (Re)Think? J Endocr Soc. 2022;6(2):bvac001. doi: https://doi.org/10.1210/jendso/bvac001
15. Giusti F, Cianferotti L, Boaretto F, et al. Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database. Endocrine. 2017;58(2):349-359. doi: https://doi.org/10.1007/s12020-017-1234-4
16. Goudet P, Dalac A, Le Bras M, et al. MEN1 disease occurring before 21 years old: A 160-Patient Cohort Study From the Groupe d’étude des Tumeurs Endocrines. J Clin Endocrinol Metab. 2015;100(4):1568-1577. doi: https://doi.org/10.1210/jc.2014-3659
17. Thakker R V, Newey PJ, Walls G V, et al. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012;97(9):2990-3011. doi: https://doi.org/10.1210/jc.2012-1230
18. Falconi M, Eriksson B, Kaltsas G, et al. ENETS consensus guidelines update for the management of patients with functional pancreatic neuroendocrine tumors and non-functional pancreatic neuroendocrine tumors. Neuroendocrinology. 2016;103(2):153-171. doi: https://doi.org/10.1159/000443171
19. Pavel M, Öberg K, Falconi M, et al. Gastroenteropancreatic neuroendocrine neoplasms: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2020;31(7):844-860. doi: https://doi.org/10.1016/j.annonc.2020.03.304
20. Sada A, Habermann EB, Szabo Yamashita T, et al. Comparison Between Sporadic and Multiple Endocrine Neoplasia Type 1– Associated Insulinoma. J Am Coll Surg. 2022;235(5):756-763. doi: https://doi.org/10.1097/XCS.0000000000000307
21. Niederle B, Selberherr A, Bartsch DK, et al. Multiple endocrine neoplasia type 1 and the pancreas: diagnosis and treatment of functioning and non-functioning pancreatic and duodenal neuroendocrine neoplasia within the MEN1 syndrome – An International Consensus Statement. Neuroendocrinology. 2020;111(7):609-630. doi: https://doi.org/10.1159/000511791
22. Santucci N, Gaujoux S, Binquet C, et al. Pancreatoduodenectomy for neuroendocrine tumors in patients with multiple endocrine neoplasia type 1: An AFCE (Association Francophone de Chirurgie Endocrinienne) and GTE (Groupe d’étude des Tumeurs Endocrines) Study. World J Surg. 2021;45(6):1794-1802. doi: https://doi.org/10.1007/s00268-021-06005-7
23. Conemans EB, Nell S, Pieterman CRC, et al. Prognostic factors for survival of MEN1 patients with duodenopancreatic tumors metastatic to the liver: Results from the Dmsg. Endocr Pract. 2017;23(6):641-648. doi: https://doi.org/10.4158/EP161639.OR
24. Öberg K, Hellman P, Kwekkeboom D, Jelic S. Neuroendocrine bronchial and thymic tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. 2010;21(6):v220-v222. doi: https://doi.org/10.1093/annonc/mdq191
25. Filosso PL, Ruffini E, Solidoro P, et al. Neuroendocrine tumors of the thymus. J Thorac Dis. 2017;9(S15):S1484-S1490. doi: https://doi.org/10.21037/jtd.2017.10.83
26. Tang Y, Chen X, Lu X, et al. Case report: Primary hepatic neuroendocrine tumor: two cases report with literature review. Front Oncol. 2023;13(6):v220-v222. doi: https://doi.org/10.3389/fonc.2023.1225583
27. 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: https://doi.org/10.3390/cells10081895
Supplementary files
|
|
1. Рисунок 1. Клиническое течение заболеваний пациентки до госпитализации в НМИЦ эндокринологии. | |
| Subject | ||
| Type | Исследовательские инструменты | |
View
(225KB)
|
Indexing metadata ▾ | |
|
|
2. Рисунок 2. Сцинтиграфия околощитовидных желез с ОФЭКТ-КТ. | |
| Subject | ||
| Type | Исследовательские инструменты | |
View
(306KB)
|
Indexing metadata ▾ | |
|
|
3. Рисунок 3. МРТ головного мозга во фронтальной и сагиттальной проекциях. Красными метками отмечено образование гипофиза. | |
| Subject | ||
| Type | Исследовательские инструменты | |
View
(299KB)
|
Indexing metadata ▾ | |
|
|
4. Рисунок 4. МСКТ органов брюшной полости. Красными стрелками отмечены образования ПЖ. Желтым контуром отмечено образование правого надпочечника. | |
| Subject | ||
| Type | Исследовательские инструменты | |
View
(706KB)
|
Indexing metadata ▾ | |
|
|
5. Рисунок 5. Сцинтиграфия с Тс99m–Тектротидом с ОФЭКТ/КТ. Красными метками отмечен очаг в SIV печени с гиперэкспрессией соматостатиновых рецепторов. | |
| Subject | ||
| Type | Исследовательские инструменты | |
View
(409KB)
|
Indexing metadata ▾ | |
Review
For citations:
Bibik E.E., Aboishava L.A., Matyushkina A.S., Eremkina A.K., Degtyarev M.V., Platonova N.M., Troshina E.A., Mokrysheva N.G. Non-classical manifestation of multiple endocrine neoplasia type 1. Endocrine Surgery. 2023;17(3):61-70. (In Russ.) https://doi.org/10.14341/serg12815
Views:
379
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
