PMID- 35521758
OWN - NLM
STAT- MEDLINE
DCOM- 20220523
LR  - 20220524
IS  - 1479-683X (Electronic)
IS  - 0804-4643 (Linking)
VI  - 187
IP  - 1
DP  - 2022 May 19
TI  - Convergence between germline and somatic mutations in pancreatic neuroendocrine 
      tumors.
PG  - 85-90
LID - 10.1530/EJE-21-0893 [doi]
AB  - OBJECTIVES: The pancreatic neuroendocrine tumors (PanNETs) are a group of 
      clinically heterogeneous neoplasms. Although previous studies illustrated the 
      somatic mutation pattern for PanNETs, the germline mutation pattern is still 
      unclear. Here, we comprehensively screened the underlying germline mutations in a 
      cohort of multiple endocrine neoplasia type 1 (MEN1)-related and sporadic PanNETs 
      to reveal the characteristics of germline mutation in PanNET patients. METHODS: 
      Patients diagnosed with PanNETs by biopsy or surgical pathology were enrolled in 
      this study. Peripheral blood samples were used for genomic DNA purification and 
      subsequent sequencing. The following sequencing techniques were used and compared 
      for validation: (1) targeted gene capture with a customized panel; (2) whole 
      exome sequencing data from previous study. RESULTS: A total of 184 PanNET 
      patients were enrolled, including 20 MEN1-related and 164 sporadic cases. In this 
      study, MEN1 mutation rate in MEN1-related PanNETs was 60% (12/20), of which 50% 
      were novel mutation sites. For sporadic PanNETs, the overall germline mutation 
      rate was very low. Besides the rare MEN1 mutation, previously unreported germline 
      variant in DAXX was found in one non-functional PanNET. CONCLUSIONS: This study 
      revealed distinctive germline mutation rates between MEN1-related and sporadic 
      PanNETs. The novel MEN1 mutations contribute to revealing the spectrum of MEN1 
      mutations in PanNETs. The newly discovered germline variant of DAXX in sporadic 
      PanNET implies a tendency of convergence between germline and somatic mutation 
      genes.
FAU - Ling, Chao
AU  - Ling C
AUID- ORCID: 0000-0001-5328-4906
AD  - The Laboratory of Clinical Genetics, Medical Research Center.
AD  - State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical 
      College Hospital, Chinese Academy of Medical Science & Peking Union Medical 
      College, Beijing, China.
FAU - Hong, Xiafei
AU  - Hong X
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
FAU - Xu, Mengyue
AU  - Xu M
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
FAU - Wang, Yutong
AU  - Wang Y
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
FAU - Ma, Xiaosen
AU  - Ma X
AD  - Department of Endocrinology, Key Laboratory of Endocrinology, National Health 
      Commission of the People's Republic of China, Peking Union Medical College 
      Hospital, Chinese Academy of Medical Science & Peking Union Medical College, 
      Beijing, China.
FAU - Cui, Yunying
AU  - Cui Y
AD  - Department of Endocrinology, Key Laboratory of Endocrinology, National Health 
      Commission of the People's Republic of China, Peking Union Medical College 
      Hospital, Chinese Academy of Medical Science & Peking Union Medical College, 
      Beijing, China.
FAU - Jiang, Rui
AU  - Jiang R
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
FAU - Cao, Dingyan
AU  - Cao D
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
FAU - Wu, Huanwen
AU  - Wu H
AD  - Department of Pathology, Peking Union Medical College Hospital, and Molecular 
      Pathology Research Center, Chinese Academy of Medical Sciences & Peking Union 
      Medical College, Beijing, China.
FAU - Tong, Anli
AU  - Tong A
AUID- ORCID: 0000-0002-5432-5818
AD  - Department of Endocrinology, Key Laboratory of Endocrinology, National Health 
      Commission of the People's Republic of China, Peking Union Medical College 
      Hospital, Chinese Academy of Medical Science & Peking Union Medical College, 
      Beijing, China.
FAU - Zhao, Yupei
AU  - Zhao Y
AUID- ORCID: 0000-0001-7081-2299
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
AD  - State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical 
      College Hospital, Chinese Academy of Medical Science & Peking Union Medical 
      College, Beijing, China.
FAU - Wu, Wenming
AU  - Wu W
AUID- ORCID: 0000-0003-0691-8333
AD  - Department of General Surgery, Peking Union Medical College Hospital, Chinese 
      Academy of Medical Science & Peking Union Medical College, Beijing, China.
AD  - State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical 
      College Hospital, Chinese Academy of Medical Science & Peking Union Medical 
      College, Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20220519
PL  - England
TA  - Eur J Endocrinol
JT  - European journal of endocrinology
JID - 9423848
SB  - IM
MH  - Germ-Line Mutation/genetics
MH  - Humans
MH  - *Multiple Endocrine Neoplasia Type 1/genetics
MH  - Mutation/genetics
MH  - *Neuroendocrine Tumors/diagnosis/genetics
MH  - *Pancreatic Neoplasms/genetics/pathology
EDAT- 2022/05/07 06:00
MHDA- 2022/05/24 06:00
CRDT- 2022/05/06 06:42
PHST- 2021/08/27 00:00 [received]
PHST- 2022/04/25 00:00 [accepted]
PHST- 2022/05/07 06:00 [pubmed]
PHST- 2022/05/24 06:00 [medline]
PHST- 2022/05/06 06:42 [entrez]
AID - 10.1530/EJE-21-0893 [doi]
PST - epublish
SO  - Eur J Endocrinol. 2022 May 19;187(1):85-90. doi: 10.1530/EJE-21-0893.