PMID- 32565981 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20200928 IS - 1792-1074 (Print) IS - 1792-1082 (Electronic) IS - 1792-1074 (Linking) VI - 20 IP - 1 DP - 2020 Jul TI - Germline mutations in MEN1 are associated with the tumorigenesis of pituitary adenoma associated with meningioma. PG - 561-568 LID - 10.3892/ol.2020.11601 [doi] AB - 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. CI - Copyright: (c) Zhu et al. FAU - Zhu, Haibo AU - Zhu H AD - Department of Neurosurgery, Beijing Tiantan Hospital Affiliated to Capital Medical University, Beijing 100070, P.R. China. FAU - Miao, Yazhou AU - Miao Y AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Shen, Yutao AU - Shen Y AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Guo, Jing AU - Guo J AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Xie, Weiyan AU - Xie W AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Zhao, Sida AU - Zhao S AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Dong, Wei AU - Dong W AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. FAU - Zhang, Yazhuo AU - Zhang Y AD - Department of Neurosurgery, Beijing Tiantan Hospital Affiliated to Capital Medical University, Beijing 100070, P.R. China. AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. AD - Cell Laboratory, Beijing Institute for Brain Disorders Brain Tumor Center, Beijing 100070, P.R. China. AD - Department of Neurosurgery, China National Clinical Research Center for Neurological Diseases, Beijing 100070, P.R. China. FAU - Li, Chuzhong AU - Li C AD - Department of Neurosurgery, Beijing Tiantan Hospital Affiliated to Capital Medical University, Beijing 100070, P.R. China. AD - Cell Laboratory, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, P.R. China. AD - Cell Laboratory, Beijing Institute for Brain Disorders Brain Tumor Center, Beijing 100070, P.R. China. AD - Department of Neurosurgery, China National Clinical Research Center for Neurological Diseases, Beijing 100070, P.R. China. LA - eng PT - Journal Article DEP - 20200513 PL - Greece TA - Oncol Lett JT - Oncology letters JID - 101531236 PMC - PMC7285847 OTO - NOTNLM OT - MEN1 OT - PAM OT - germline mutation EDAT- 2020/06/23 06:00 MHDA- 2020/06/23 06:01 PMCR- 2020/05/13 CRDT- 2020/06/23 06:00 PHST- 2019/05/13 00:00 [received] PHST- 2020/03/09 00:00 [accepted] PHST- 2020/06/23 06:00 [entrez] PHST- 2020/06/23 06:00 [pubmed] PHST- 2020/06/23 06:01 [medline] PHST- 2020/05/13 00:00 [pmc-release] AID - OL-0-0-11601 [pii] AID - 10.3892/ol.2020.11601 [doi] PST - ppublish SO - Oncol Lett. 2020 Jul;20(1):561-568. doi: 10.3892/ol.2020.11601. Epub 2020 May 13.