Open Access

Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma

  • Authors:
    • Haibo Zhu
    • Yazhou Miao
    • Yutao Shen
    • Jing Guo
    • Weiyan Xie
    • Sida Zhao
    • Wei Dong
    • Yazhuo Zhang
    • Chuzhong Li
  • View Affiliations

  • Published online on: May 13, 2020     https://doi.org/10.3892/ol.2020.11601
  • Pages: 561-568
  • Copyright: © Zhu et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Pituitary adenoma and meningioma are two of the most common benign tumors in the central nervous system. Pituitary adenoma associated with meningioma (PAM) is a rare disease, the tumorigenesis of which remains unclear. Therefore, the aim of the present study was to investigate the tumorigenesis of PAM. A total of 8,197 patients with pituitary adenoma were analyzed. Furthermore, the clinical data of 57 patients with PAM were compared with patients with multiple endocrine neoplasia 1 (MEN‑1) syndrome. Whole exome sequencing (WES) was performed on 23 samples from patients with PAM and the germline mutation was verified by Sanger sequencing. The age of tumor penetrance (age of patients at diagnosis) for PAM was significantly higher than that for patients with MEN‑1. Compared with MEN‑1 patients, there was a significant association between PAM and female sex (P=0.004). Clonal analysis and phylogenetic tree construction suggested that the pituitary adenoma and meningioma in PAM don't originate from a common progenitor. WES revealed that 5/23 PAM samples had the recurrent germline mutation MEN1 c.1523G>A; p.G508D, which may be a genetic risk factor for PAM. Compared with patients with sporadic pituitary adenoma, the difference was statistically significant (P=0.0004). Compared with wild‑type MEN1, there was a significant association between the MEN1 mutation and recurrence of pituitary adenoma, young age and larger diameter of the meningioma. The present study indicated that germline mutations in MEN1 may be associated with the tumorigenesis of PAM.

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July 2020
Volume 20 Issue 1

Print ISSN: 1792-1074
Online ISSN:1792-1082

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APA
Zhu, H., Miao, Y., Shen, Y., Guo, J., Xie, W., Zhao, S. ... Li, C. (2020). Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma. Oncology Letters, 20, 561-568. https://doi.org/10.3892/ol.2020.11601
MLA
Zhu, H., Miao, Y., Shen, Y., Guo, J., Xie, W., Zhao, S., Dong, W., Zhang, Y., Li, C."Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma". Oncology Letters 20.1 (2020): 561-568.
Chicago
Zhu, H., Miao, Y., Shen, Y., Guo, J., Xie, W., Zhao, S., Dong, W., Zhang, Y., Li, C."Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma". Oncology Letters 20, no. 1 (2020): 561-568. https://doi.org/10.3892/ol.2020.11601