PMID- 36122512
OWN - NLM
STAT- MEDLINE
DCOM- 20221129
LR  - 20221129
IS  - 1532-8198 (Electronic)
IS  - 1092-9134 (Linking)
VI  - 61
DP  - 2022 Dec
TI  - Next generation sequencing targeted detection of somatic mutations in patients 
      with mucinous adenocarcinoma of the appendix.
PG  - 152024
LID - S1092-9134(22)00126-5 [pii]
LID - 10.1016/j.anndiagpath.2022.152024 [doi]
AB  - The aim of this study was to investigate the mutations in mucinous adenocarcinoma 
      of the appendix (MAA). SNV was detected in 15 patients with MAA, Gene Ontology 
      (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) and reactome pathway 
      analyses were performed. Tumor mutational burden (TMB), mutant-allele tumor 
      heterogeneity (MATH), microsatellite instability (MSI) was analysis. Finally, the 
      human leukocyte antigen (HLA) typing of the samples was detected. The results 
      showed that TP53 (27 %) and KRAS (20 %) were the highest mutation frequency in 
      the sample, mainly occur in p53 pathway and RTK-RAS pathway. GO analysis reveals 
      mutated genes are closely related to the regulation of GTPase activity, 
      regulation of small GTPase mediated signal transduction and other BP, related to 
      the CC and MF. Analysis of KEGG pathways indicated that the top canonical 
      pathways associated with SNV was Wnt signaling pathway. Reactome pathway analysis 
      further revealed that the mutant genes were closely related to muscle 
      contraction. Only one patient had moderate TMB level and one patient with high 
      MSI. In conclusion, the most common mutated genes and the signaling pathways 
      closely related to MAA development were detected in this study, which will 
      contribute to the development of immunotherapy for patients with MAA.
CI  - Copyright (c) 2022. Published by Elsevier Inc.
FAU - Jian, Dan
AU  - Jian D
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Lu, Xianfeng
AU  - Lu X
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Wang, Dong
AU  - Wang D
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Li, Mengxia
AU  - Li M
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Yang, Yuxin
AU  - Yang Y
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Chen, Qian
AU  - Chen Q
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Qian, Chengyuan
AU  - Qian C
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China.
FAU - Shao, Weikang
AU  - Shao W
AD  - Genecast Biotechnology Co., Ltd., Wuxi 214104, China.
FAU - Dai, Nan
AU  - Dai N
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China. Electronic address: 85459236@qq.com.
FAU - Feng, Yan
AU  - Feng Y
AD  - Department of Oncology, Daping Hospital, Army Medical University, Chongqing 
      400042, China. Electronic address: fengyan19820729@sina.com.
LA  - eng
PT  - Journal Article
DEP - 20220808
PL  - United States
TA  - Ann Diagn Pathol
JT  - Annals of diagnostic pathology
JID - 9800503
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Humans
MH  - High-Throughput Nucleotide Sequencing
MH  - *Adenocarcinoma, Mucinous/pathology
MH  - *Appendix/chemistry/metabolism/pathology
MH  - *Appendiceal Neoplasms/genetics/pathology
MH  - *Adenocarcinoma/pathology
MH  - Microsatellite Instability
MH  - Mutation
MH  - Biomarkers, Tumor/genetics/analysis
OTO - NOTNLM
OT  - Human leukocyte antigen typing
OT  - Mucinous adenocarcinoma of the appendix
OT  - Single nucleotide substitution
OT  - Somatic mutation
OT  - Tumor mutational burden
COIS- Declaration of competing interest The authors declare that the research was 
      conducted in the absence of any commercial or financial relationships that could 
      be construed as a potential conflict of interest.
EDAT- 2022/09/20 06:00
MHDA- 2022/11/30 06:00
CRDT- 2022/09/19 18:21
PHST- 2022/08/03 00:00 [received]
PHST- 2022/08/04 00:00 [accepted]
PHST- 2022/09/20 06:00 [pubmed]
PHST- 2022/11/30 06:00 [medline]
PHST- 2022/09/19 18:21 [entrez]
AID - S1092-9134(22)00126-5 [pii]
AID - 10.1016/j.anndiagpath.2022.152024 [doi]
PST - ppublish
SO  - Ann Diagn Pathol. 2022 Dec;61:152024. doi: 10.1016/j.anndiagpath.2022.152024. 
      Epub 2022 Aug 8.