Volume 25, Issue 6 (Iranian South Medical Journal 2023)                   Iran South Med J 2023, 25(6): 547-557 | Back to browse issues page


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Kalantarhormozi M R, Abbaszadeh M, Abbasi F, Vafaee E, Ghanbari Z. Introducing a Case of MEN-1 Syndrome with Classic Manifestations in Bushehr. Iran South Med J 2023; 25 (6) :547-557
URL: http://ismj.bpums.ac.ir/article-1-1703-en.html
1- Department of Internal Medicine, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran
2- Department of Internal Medicine, School of Medicine, Bushehr University of Medical Sciences, Bushehr, Iran , z.ghanbari1986@yahoo.com
Abstract:   (2004 Views)
Endocrine neoplasia type 1 (MEN-1), also known as Wermer syndrome, is an autosomal dominant disorder characterized by the combined occurrence of two or more tumors (classically parathyroid, pancreatic, and pituitary). Due to the rarity of MEN-1 syndrome and the complexity of the disease, clinical management is difficult, and it is recom-mended to collaborate with a professional team including: clinical geneticist, endocrinologist, gastroenterologist, oncolo-gist, endocrinologist, neurosurgeon, radiologist, and histopathologist. Here, a case of a young patient with MEN-1 syndrome is introduced, who was admitted to Persian Gulf Martyrs Hospital in Bushehr due to hypercalcemia. The patient had a history of lipoma in childhood and currently has tumoral involvement of all three classic glands of this syndrome.
Keywords: MEN-1, tumor, gland, parathyroid
Full-Text [PDF 494 kb]   (517 Downloads)    
Type of Study: Case Report | Subject: Endocrine System
Received: 2022/09/16 | Accepted: 2023/05/21 | Published: 2023/07/4

References
1. Singh G, Mulji NJ, Jialal I. Multiple Endocrine Neoplasia Type 1. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023. [PubMed]
2. Carroll RW. Multiple endocrine neoplasia type 1 (MEN1). Asia Pac J Clin Oncol 2013; 9(4): 297-309. [DOI]
3. Gaztambide S, Vazquez F, Castano L. Diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN1). Minerva Endocrinol 2013; 38(1): 17-28. [PubMed]
4. 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]
5. 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. [DOI]
6. Brandi ML, Agarwal SK, Perrier ND, et al. Multiple Endocrine Neoplasia Type 1: Latest Insights. Endocr Rev 2021; 42(2): 133-170. [DOI]
7. Manoharan J, Bollmann C, Kann PH, et al. Gender Differences in Multiple Endocrine Neoplasia Type 1: Implications for Screening? Visc Med 2020; 36(1): 3-9. [DOI]
8. Giusti F, Marini F, Brandi ML. Multiple Endocrine Neoplasia Type 1. In: Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle 2005; 1993-2023. [PubMed]
9. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 2008; 29(1): 22-32. [DOI]
10. Agarwal SK, Guru SC, Heppner C, et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999; 96(1): 143-152. [DOI]
11. Yaguchi H, Ohkura N, Takahashi M, et al. Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Mol Cell Biol 2004; 24(15): 6569-6580. [DOI]
12. Yang Y, Hua X. In search of tumor suppressing functions of menin. Mol Cell Endocrinol 2007; 265-266: 34-41. [DOI]
13. Ibrahim MN, Liem J, ElKady A. Multiple endocrine neoplasia type 1 (MEN1) presenting with renal stones: Case report and review. Radiol Case Rep 2020; 15(12): 2503-2509. [DOI]
14. Falchetti A. Genetics of multiple endocrine neoplasia type 1 syndrome: what’s new and what’s old. F1000Res 2017; 6: F1000 Faculty Rev-73. [DOI]
15. White HD, Blair J, Pinkney J, et al. Improvement in the care of multiple endocrine neoplasia type 1 through a regional multidisciplinary clinic. QJM 2010; 103(5): 337-45. [DOI]
16. Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998; 62(2): 232-244. [DOI]
17. Burgess JR, Greenaway TM, Shepherd JJ. Expression of the MEN-1 gene in large kindred with multiple endocrine neoplasia type 1. J Intern Med 1998; 243(6): 465-470. [DOI]
18. Vierimaa O, Ebeling TM, Kytola S, et al. Multiple endocrine neoplasia type 1 in northern Finland; clinical features and genotype-phenotype correlation. Eur J Endocrinol 2007; 157(3): 285-294. [DOI]
19. Chigot JP, Bendib S, Turpin G, et al. Characteristic pathological associations in multiple endocrine neoplasia type 1. Presse Med 1996; 25(27): 1229-1233. [PubMed]
20. Kato H, Uchimura I, Morohoshi M, et al. Multiple endocrine neoplasia type 1 associated with spinal ependymoma. Intern Med 1996; 35(4): 285-289. [DOI]
21. Giraud S, Choplin H, Teh BT, et al. A large multiple endocrine neoplasia type 1 family with clinical expression suggestive of anticipation. J Clin Endocrinol Metab 1997; 82(10): 3487-3492. [DOI]
22. Doumith R, de Gennes JL, Cabane JP, et al. Pituitary prolactinoma, adrenal aldosteroneproducing adenomas, gastric schwannoma and colonic polyadenomas: a possible variant of multiple endocrine neoplasia (MEN) type I. Acta Endocrinol (Copenh) 1982; 100(2): 189-195. [DOI]
23. Pack S, Turner ML, Zhuang Z, et al. Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene. J Invest Dermatol 1998; 110(4): 438-440. [DOI]
24. McKeeby JL, Li X, Zhuang Z, et al. Multiple leiomyomas of the esophagus, lung, and uterus in multiple endocrine neoplasia type 1. Am J Pathol 2001; 159(3): 1121-1127. [DOI]
25. Asgharian B, Chen YJ, Patronas NJ, et al. Meningiomas may be a component tumor of multiple endocrine neoplasia type 1. Clin Cancer Res 2004; 10(3): 869-880. [DOI]
26. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med 1954; 16(3): 363-371. [DOI]
27. Goudet P, Bonithon-Kopp C, Murat A, et al. Gender-related differences in MEN1 lesion occurrence and diagnosis: a cohort study of 734 cases from the Groupe d'etude des Tumeurs Endocrines. Eur J Endocrinol 2011; 165(1): 97-105. [DOI]
28. Makri A, Bonella MB, Keil MF, et al. Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease. Clin Endocrinol (Oxf) 2018; 89(4): 437-443. [DOI]
29. van Leeuwaarde RS, Dreijerink KM, Ausems MG, et al. MEN1-dependent breast cancer: indication for early screening? results from the Dutch MEN1 study group. J Clin Endocrinol Metab 2017; 102(6): 2083-2090. [DOI]
30. 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]
31. Norton JA, Krampitz G, Zemek A, et al. Better survival but changing causes of death in patients with multiple endocrine neoplasia type 1. Ann Surg 2015; 261(6): 147-148. [DOI]
32. Dean PG, van Heerden JA, Farley DR, et al. Are patients with multiple endocrine neoplasia type I prone to premature death? World J Surg 2000; 24(11): 1437-1441. [DOI]
33. Doherty GM, Olson JA, Frisella MM, et al. Lethality of multiple endocrine neoplasia type I. World J Surg 1998; 22(6): 581-587. [DOI]
34. Geerdink EA, Van der Luijt RB, Lips CJ. Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol 2003; 149(6): 577-582. [DOI]
35. Goudet P, Murat A, Binquet C, et al. Risk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients. World J Surg 2010; 34(2): 249-255. [DOI]
36. Keller HR, Record JL, Lall NU. Multiple Endocrine Neoplasia Type 1: A Case Report With Review of Imaging Findings. Ochsner J 2018; 18(2): 170-175. [DOI]
37. Debruyne F, Delaere P, Ostyn F, et al. Daily follow-up of serum parathyroid hormone and calcium after surgery for primary hyperparathyroidism. J Otolaryngol 1999; 28(6): 305-308. [PubMed]
38. Mozzon M, Mortier PE, Jacob PM, et al. Surgical management of primary hyperparathyroidism: the case for giving up quick intraoperative PTH assay in favor of routine PTH measurement the morning after. Ann Surg 2004; 240(6): 949-953. [DOI]
39. 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. [DOI]
40. Tichomirowa MA, Daly AF, Beckers A. Familial pituitary adenomas. J Intern Med 2009; 266(1): 5-18. [DOI]
41. Beckers A, Betea D, Valdes Socin H, et al. The treatment of sporadic versus MEN1-related pituitary adenomas. J Intern Med 2003; 253(6): 599-605. [DOI]
42. Beckers A. Gigantism: a mystery explained. Bull Mem Acad R Med Belg 2002; 157(1-2): 111-117. [PubMed]
43. Jensen RT. Pancreatic endocrine tumors: recent advances. Ann Oncol 1999; 10(4): 170-176. [PubMed]
44. Tonelli F, Fratini G, Falchetti A, et al. Surgery for gastroenteropancreatic tumours in multiple endocrine neoplasia type 1: review and personal experience. J Intern Med 2005; 257(1): 38-49. [DOI]
45. Langer P, Cupisti K, Bartsch DK, et al. Adrenal involvement in multiple endocrine neoplasia type 1. World J Surg 2002; 26(8): 891-896. [DOI]
46. Schaefer S, Shipotko M, Meyer S, et al. Natural course of small adrenal lesions in multiple endocrine neoplasia type 1: an endoscopic ultrasound imaging study. Eur J Endocrinol 2008; 158(5): 699-704. [DOI]
47. Gatta-Cherifi B, Chabre O, Murat A, et al. Adrenal involvement in MEN1. Analysis of 715 cases from the Groupe d'etude des Tumeurs Endocrines database. Eur J Endocrinol 2012; 166(2): 269-279. [DOI]

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