PMID- 32126984
OWN - NLM
STAT- MEDLINE
DCOM- 20200730
LR  - 20200730
IS  - 1471-2377 (Electronic)
IS  - 1471-2377 (Linking)
VI  - 20
IP  - 1
DP  - 2020 Mar 4
TI  - p.L105Vfs mutation in a family with thymic neuroendocrine tumor combined with 
      MEN1: a case report.
PG  - 76
LID - 10.1186/s12883-020-01659-7 [doi]
LID - 76
AB  - BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal 
      dominant disorder arising from mutations of the MEN1 tumor suppressor gene on 
      chromosome 11q13; MEN1 is characterized by the development of neuroendocrine 
      tumors, including those of the parathyroid, gastrointestinal endocrine tissue and 
      anterior pituitary. Additionally, thymic neuroendocrine tumors in MEN1 are also 
      rarely reported. CASE PRESENTATION: This case report observed a family that 
      presented with MEN1 p.L105Vfs mutation, and two of the family members had been 
      diagnosed with thymic neuroendocrine tumor combined with MEN1. To the best of our 
      knowledge, this is the first time such a mutation in the MEN1 gene has been 
      reported. The proband presented with thymic neuroendocrine tumor, parathyroid 
      adenoma and rectum adenocarcinoma. The son of the proband presented with thymic 
      neuroendocrine tumor, gastrinoma, hypophysoma and parathyroid adenoma. Genetic 
      testing revealed the frameshift mutation p.L105Vfs, leading to the identification 
      of one carrier in the pedigree (the patient's younger sister). The proband then 
      underwent parathyroidectomy at the age of 26 years (in 1980) for a parathyroid 
      adenoma. Subsequently, the patient underwent thymectomy, radiotherapy and 
      chemotherapy. The patient is now 64 years old, still alive and still undergoing 
      Lanreotide therapy. CONCLUSION: Thymic neuroendocrine MEN1 is rare, but it 
      accounts for almost 20% of MEN1-associated mortality. Consequently, we should 
      focus on regular clinical screening of the thymus in MEN1 patients.
FAU - Zheng, Hongjuan
AU  - Zheng H
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Zhou, Shishi
AU  - Zhou S
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Tang, Wanfen
AU  - Tang W
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Wang, Qinghua
AU  - Wang Q
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Zhang, Xia
AU  - Zhang X
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Jin, Xiayun
AU  - Jin X
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China.
FAU - Yuan, Ying
AU  - Yuan Y
AD  - Department of Medical Oncology, Second Affiliated Hospital of Zhejiang University 
      School of Medicine, Hangzhou, 310000, China.
FAU - Fu, Jianfei
AU  - Fu J
AD  - Department of Medical Oncology, Jinhua Hospital, Zhejiang University School of 
      Medicine, 351 Mingyue Road, Jinhua, 321000, Zhejiang Province, China. 
      11218276@zju.edu.cn.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200304
PL  - England
TA  - BMC Neurol
JT  - BMC neurology
JID - 100968555
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Frameshift Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Neuroendocrine Tumors/*genetics
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
MH  - Thymus Neoplasms/*genetics
PMC - PMC7055077
OTO - NOTNLM
OT  - MEN1
OT  - Mutation
OT  - Thymic neuroendocrine tumors
COIS- The authors declare that they have no competing interests.
EDAT- 2020/03/05 06:00
MHDA- 2020/07/31 06:00
PMCR- 2020/03/04
CRDT- 2020/03/05 06:00
PHST- 2019/09/27 00:00 [received]
PHST- 2020/02/26 00:00 [accepted]
PHST- 2020/03/05 06:00 [entrez]
PHST- 2020/03/05 06:00 [pubmed]
PHST- 2020/07/31 06:00 [medline]
PHST- 2020/03/04 00:00 [pmc-release]
AID - 10.1186/s12883-020-01659-7 [pii]
AID - 1659 [pii]
AID - 10.1186/s12883-020-01659-7 [doi]
PST - epublish
SO  - BMC Neurol. 2020 Mar 4;20(1):76. doi: 10.1186/s12883-020-01659-7.