MDT discussion of a patient with multiple endocrine neoplasia type 1 accompanied with new mutated gene_CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY

Authors：

ZHAO Hui ,  ZHENG Haitao , WEI Shujian , LIN Xiangfeng , GUO Yawen , ZHANG Ke

Department of Thyroid Surgery, Affiliated Yantai Yuhuangding Hospital of Medical College of Qingdao University, Yantai, Shandong 264000, P. R. China;

Corresponding author：

ZHENG Haitao, Email: zhenghaitao1972@126.com

Keywords：

multiple endocrine neoplasia type 1; MEN-1 gene; parathyroid neoplasm; MDT

DOI：

10.7507/1007-9424.202007099

Video：

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Objective To summarize the clinical manifestations, pathogenesis, diagnosis and treatment of multiple endocrine neoplasia type 1 (MEN-1) so as to improve the understanding of MEN-1.Method The clinical data of 1 case of MEN-1 with new mutated gene in the Yantai Yuhuangding Hospital of Medical College of Qingdao University (our hospital) were analyzed retrospectively.Results The patient was a 73-year-old woman, who was admitted to our hospital because of “abdominal pain, diarrhea” for 4 d. After discussion by a multidisciplinary team, MRI of pancreatic, adrenal and pituitary, and endoscopy examinations were performed to further identify the cause of diarrhea. Meanwhile, MEN-1 gene was detected in the peripheral blood of the patient and her relatives, and the result showed that the proband and his daughter had a cytosine deletion at c.1401 in exon 10 of MEN-1 gene, which resulted in frame shift mutation of p.e468r fs, it was confirmed as MEN-1. After 5 d of conservative treatment of the disease, the patient’s family requested discharge and the patient died half a month after discharge.Conclusions MEN-1 is a rare autosomal dominant inheritable disease, with diverse clinical manifestations and easy misdiagnosis. Therefore, it is necessary to be alert to abnormal indicators in the glands associated with MEN-1, so as to achieve early diagnosis and treatment.

Citation： ZHAO Hui, ZHENG Haitao, WEI Shujian, LIN Xiangfeng, GUO Yawen, ZHANG Ke. MDT discussion of a patient with multiple endocrine neoplasia type 1 accompanied with new mutated gene. CHINESE JOURNAL OF BASES AND CLINICS IN GENERAL SURGERY, 2021, 28(1): 99-103. doi: 10.7507/1007-9424.202007099 Copy

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3.	李祉丹, 郭锐, 张红梅, 等. 多发性内分泌腺瘤病 1 型患者基因突变分析. 中国实用内科杂志, 2010, 30(4): 343-345, 393.
4.	张俊荣, 武悦, 王祥, 等. 多发性内分泌腺瘤病 15 例临床分析. 河南医学研究, 2018, 27(12): 2183-2186.
5.	徐丹, 王薇, 韩兵, 等. 多发性内分泌腺瘤病 1 型 1 例及其家系的研究. 南昌大学学报(医学版), 2013, 53(3): 99-102, 106.
6.	陈曦, 周光文. 多发性神经内分泌肿瘤诊断和治疗. 中国实用外科杂志, 2014, 34(6): 559-569.
7.	Li X, Li M, Shi T, et al. Clinical implication of MEN1 mutation in surgically resected thymic carcinoid patients. J Thorac Dis, 2018, 10(2): E125-E129.
8.	Trump D, Farren B, Wooding C, et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM, 1996, 89(9): 653-669.
9.	Cardinal JW, Bergman L, Hayward N, et al. A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. J Med Genet, 2005, 42(1): 69-74.
10.	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.
11.	Schreinemakers JM, Pieterman CR, Scholten A, et al. The optimal surgical treatment for primary hyperparathyroidism in MEN1 patients: a systematic review. World J Surg, 2011, 35(9): 1993-2005.
12.	Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 2001, 86(12): 5658-5671.
13.	Zhang HY, Chen NH, Zhang XK, et al. Clinical characteristics of multiple endocrime neoplasia: A analysis of 6 cases. Clin J Endocrinol Metab, 2013, 29(6): 470-473.
14.	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.

1. Schaaf L, Raue F. Multiple endocrine neoplasia. Dtsch Med Wochenschr, 2017, 142(18): 1379-1389.
2. Oberg K. Neuroendocrine tumors (NETs): historical overview and epidemiology. Tumori, 2010, 96(5): 797-801.
3. 李祉丹, 郭锐, 张红梅, 等. 多发性内分泌腺瘤病 1 型患者基因突变分析. 中国实用内科杂志, 2010, 30(4): 343-345, 393.
4. 张俊荣, 武悦, 王祥, 等. 多发性内分泌腺瘤病 15 例临床分析. 河南医学研究, 2018, 27(12): 2183-2186.
5. 徐丹, 王薇, 韩兵, 等. 多发性内分泌腺瘤病 1 型 1 例及其家系的研究. 南昌大学学报(医学版), 2013, 53(3): 99-102, 106.
6. 陈曦, 周光文. 多发性神经内分泌肿瘤诊断和治疗. 中国实用外科杂志, 2014, 34(6): 559-569.
7. Li X, Li M, Shi T, et al. Clinical implication of MEN1 mutation in surgically resected thymic carcinoid patients. J Thorac Dis, 2018, 10(2): E125-E129.
8. Trump D, Farren B, Wooding C, et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM, 1996, 89(9): 653-669.
9. Cardinal JW, Bergman L, Hayward N, et al. A report of a national mutation testing service for the MEN1 gene: clinical presentations and implications for mutation testing. J Med Genet, 2005, 42(1): 69-74.
10. 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.
11. Schreinemakers JM, Pieterman CR, Scholten A, et al. The optimal surgical treatment for primary hyperparathyroidism in MEN1 patients: a systematic review. World J Surg, 2011, 35(9): 1993-2005.
12. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab, 2001, 86(12): 5658-5671.
13. Zhang HY, Chen NH, Zhang XK, et al. Clinical characteristics of multiple endocrime neoplasia: A analysis of 6 cases. Clin J Endocrinol Metab, 2013, 29(6): 470-473.
14. 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.

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MDT discussion of a patient with multiple endocrine neoplasia type 1 accompanied with new mutated gene

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