Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
October-2015 Volume 12 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
October-2015 Volume 12 Issue 4

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Case Report

MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report

  • Authors:
    • Zhiwei Ning
    • Ou Wang
    • Xunwu Meng
    • Xiaoping Xing
    • Weibo Xia
    • Yan Jiang
    • Mei Li
    • Yuan Xu
  • View Affiliations / Copyright

    Affiliations: Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Beijing 100730, P.R. China, Department of Endocrinology, Beijing Chaoyang Hospital, Capital Medical University, Beijing 100020, P.R. China
  • Pages: 6152-6156
    |
    Published online on: July 29, 2015
       https://doi.org/10.3892/mmr.2015.4138
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease characterized by combined occurrence of tumors and hyperplasia in tissues including the parathyroid, gastrointestinal endocrine tissue and anterior pituitary. Heterozygous germline mutation of the tumor suppressor gene MEN1 is the cause of the disease. Treatment and long‑term follow up of patients with MEN1 are rarely reported in the literature due to the relative rarity of the disease; thus, there is limited understanding of tumor biology and behavior, and heterogeneous clinical presentation. This case report observed a family that presented with MEN1 c.825‑1G>A mutation. The clinical features and treatment were followed up for >20 years. Detailed family history of this pedigree was investigated and followed up. Genomic DNA was extracted by standard methods from peripheral leukocytes. The coding sequence, including 9 coding exons and 16 splice junctions of the MEN1 gene of leukocyte DNA was determined. The proband presented with gastrinoma, pituitary tumors, hyperparathyroidism, thymoma and lung carcinoid tumors, and was followed from age 35 to 54 years old. During the 20 years, the patient underwent four surgeries: Trans‑sphenoidal adenomectomy, followed by post operative radiotherapy at 39 years; hyperplasia parathyroid gland resection at 40 years; removal of pancreatic, head and neck, duodenal, gallbladder, bile duct, subtotal gastric (4/5) and pyloric region lymph nodes at age 41; and a thymectomy and left lung carcinoid tumor removal procedure at the age of 49. The patient died of unrelated trauma and had a relatively stable illness course. DNA sequence analysis revealed MEN1 gene c.825‑1G>A or IVS 5‑1G>A mutation in the family. Two carriers in the pedigree were identified and followed up. Data indicated that although MEN1 is a complex disease involving multiple organs and systems, MEN1 tumors should be considered surgically curable. If patients are properly cared for by multidisciplinary teams comprising of relevant specialists with experience in the diagnosis and treatment of patients with endocrine tumors, patients may have a relatively positive prognosis.
View Figures

Figure 1

Figure 2

View References

1 

Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, et al: Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 276:404–407. 1997. View Article : Google Scholar : PubMed/NCBI

2 

Lemmens I, Van de Ven WJ, Kas K, Zhang CX, Giraud S, Wautot V, Buisson N, De Witte K, Salandre J, Lenoir G, et al: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. The European Consortium on MEN1. Hum Mol Genet. 6:1177–1183. 1997. View Article : Google Scholar : PubMed/NCBI

3 

Pannett AA and Thakker RV: Somatic mutations in MEN type 1 tumors, consistent with the Knudson 'two-hit' hypothesis. J Clin Endocrinol Metab. 86:4371–4374. 2001.PubMed/NCBI

4 

Carling T: Multiple endocrine neoplasia syndrome: Genetic basis for clinical management. Curr Opin Oncol. 17:7–12. 2005. View Article : Google Scholar

5 

Leotlela PD, Jauch A, Holtgreve-Grez H and Thakker RV: Genetics of neuroendocrine and carcinoid tumours. Endocr Relat Cancer. 10:437–450. 2003. View Article : Google Scholar

6 

Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, et al: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 86:5658–5671. 2001. View Article : Google Scholar : PubMed/NCBI

7 

Lemos MC and Thakker RV: Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat. 29:22–32. 2008. View Article : Google Scholar

8 

Eckel F and Jelic S; ESMO Guidelines Working Group: Billiary cancer: ESMO clinical recommendation for diagnosis, treatment and follow-up. Ann Oncol. 20(Suppl 4): 46–48. 2009. View Article : Google Scholar

9 

Mailman MD, Muscarella P, Schirmer WJ, Ellison EC, O'Dorisio TM and Prior TW: Identification of MEN1 mutations in sporadic enteropancreatic neuroendocrine tumors by analysis of paraffin-embedded tissue. Clin Chem. 45:29–34. 1999.PubMed/NCBI

10 

Nagamura Y, Yamazaki M, Shimazu S, Sano K, Tsukada T and Sakurai A: A novel splice site mutation of the MEN1 gene identified in a patient with primary hyperparathyroidism. Endocr J. 59:523–530. 2012. View Article : Google Scholar : PubMed/NCBI

11 

Hai N, Aoki N, Shimatsu A¸ Mori T and Kosugi S: Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: Analysis of 20 Japanese sporadic cases with MEN1. Clin Endocrinol (Oxf). 52:509–518. 2000. View Article : Google Scholar

12 

Raghavan R, Shah S, Kondkar AA, Dherai AJ, Desai D, Chauhan P, Lala M and Ashavaid TF: MEN1 935-1G>C splicing mutation in an Indian patient with multiple endocrine neoplasia type 1. Mol Diagn Ther. 11:129–131. 2007. View Article : Google Scholar

13 

Modlin IM, Moss SF, Chung DC, Jensen RT and Snyderwine E: Priorities for improving the management of gastroen-teropancreatic neuroendocrine tumors. J Natl Cancer Inst. 100:1282–1289. 2008. View Article : Google Scholar : PubMed/NCBI

14 

Machens A, Schaaf L, Karges W, Frank-Raue K, Bartsch DK, Rothmund M, Schneyer U, Goretzki P, Raue F and Dralle H: Age related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): A multicentre study of 258 gene carriers. Clin Endocrinol (Oxf). 67:613–622. 2007.

15 

Ehehalt F, Saeger HD, Schmidt CM and Grützmann R: Neuroendocrine tumors of the pancreas. Oncologist. 14:456–467. 2009. View Article : Google Scholar : PubMed/NCBI

16 

Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML, et al: Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 97:2990–3011. 2012. View Article : Google Scholar : PubMed/NCBI

17 

Imamura M, Komoto I, Ota S, Hiratsuka T, Kosugi S, Doi R, Awane M and Inoue N: Biochemically curative surgery for gastrinoma in multiple endocrine neoplasia type 1 patients. World J Gastroenterol. 17:1343–1353. 2011. View Article : Google Scholar : PubMed/NCBI

18 

Schreinemakers JM, Pieterman CR, Scholten A, Vriens MR, Valk GD and Rinkes IH: The optimal surgical treatment for primary hyperparathyroidism in MEN1 patients: A systematic review. World J Surg. 35:1993–2005. 2011. View Article : Google Scholar : PubMed/NCBI

19 

Lopez CL, Falconi M, Waldmann J, Boninsegna L, Fendrich V, Goretzki PK, Langer P, Kann PH, Partelli S and Bartsch DK: Partial pancreaticoduodenectomy can provide cure for duodenal gastrinoma associated with multiple endocrine neoplasia type 1. Ann Surg. 257:308–314. 2013. View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Ning Z, Wang O, Meng X, Xing X, Xia W, Jiang Y, Li M and Xu Y: MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report. Mol Med Rep 12: 6152-6156, 2015.
APA
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y. ... Xu, Y. (2015). MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report. Molecular Medicine Reports, 12, 6152-6156. https://doi.org/10.3892/mmr.2015.4138
MLA
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y., Li, M., Xu, Y."MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report". Molecular Medicine Reports 12.4 (2015): 6152-6156.
Chicago
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y., Li, M., Xu, Y."MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report". Molecular Medicine Reports 12, no. 4 (2015): 6152-6156. https://doi.org/10.3892/mmr.2015.4138
Copy and paste a formatted citation
x
Spandidos Publications style
Ning Z, Wang O, Meng X, Xing X, Xia W, Jiang Y, Li M and Xu Y: MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report. Mol Med Rep 12: 6152-6156, 2015.
APA
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y. ... Xu, Y. (2015). MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report. Molecular Medicine Reports, 12, 6152-6156. https://doi.org/10.3892/mmr.2015.4138
MLA
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y., Li, M., Xu, Y."MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report". Molecular Medicine Reports 12.4 (2015): 6152-6156.
Chicago
Ning, Z., Wang, O., Meng, X., Xing, X., Xia, W., Jiang, Y., Li, M., Xu, Y."MEN1 c.825‑1G>A mutation in a family with multiple endocrine neoplasia type 1: A case report". Molecular Medicine Reports 12, no. 4 (2015): 6152-6156. https://doi.org/10.3892/mmr.2015.4138
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team