PMID- 33732253
OWN - NLM
STAT- MEDLINE
DCOM- 20210915
LR  - 20210915
IS  - 1664-3224 (Electronic)
IS  - 1664-3224 (Linking)
VI  - 12
DP  - 2021
TI  - Comprehensive Genomic Profiling of Rare Tumors in China: Routes to Immunotherapy.
PG  - 631483
LID - 10.3389/fimmu.2021.631483 [doi]
LID - 631483
AB  - Treatment options for rare tumors are limited, and comprehensive genomic 
      profiling may provide useful information for novel treatment strategies and 
      improving outcomes. The aim of this study is to explore the treatment 
      opportunities of patients with rare tumors using immune checkpoint inhibitors 
      (ICIs) that have already been approved for routine treatment of common tumors. We 
      collected immunotherapy-related indicators data from a total of 852 rare tumor 
      patients from across China, including 136 programmed cell death ligand-1 (PD-L1) 
      expression, 821 tumors mutational burden (TMB), 705 microsatellite instability 
      (MSI) and 355 human leukocyte antigen class I (HLA-I) heterozygosity reports. We 
      calculated the positive rates of these indicators and analyzed the consistency 
      relationship between TMB and PD-L1, TMB and MSI, and HLA-I and PD-L1. The 
      prevalence of PD-L1 positive, TMB-H, MSI-, and HLA-I -heterozygous was 47.8%, 
      15.5%, 7.4%, and 78.9%, respectively. The consistency ratio of TMB and PD-L1, TMB 
      and MSI, and HLA-I and PD-L1 was 54.8% (78/135), 87.3% (598/685), and 47.4% 
      (54/114), respectively. The prevalence of the four indicators varied widely 
      across tumors systems and subtypes. The probability that neuroendocrine tumors 
      (NETs) and biliary tumors may benefit from immunotherapy is high, since the 
      proportion of TMB-H is as high as 50% and 25.4% respectively. The rates of PD-L1 
      positivity, TMB-H and MSI-H in carcinoma of unknown primary (CUP) were relatively 
      high, while the rates of TMB-H and MSI-H in soft tissue tumors were both 
      relatively low. Our study revealed the distribution of immunotherapeutic 
      indicators in patients with rare tumors in China. Comprehensive genomic profiling 
      may offer novel therapeutic modalities for patients with rare tumors to solve the 
      dilemma of limited treatment options.
CI  - Copyright (c) 2021 Wang, Fang, Jiang, Xing, Li, Chen, Yi, Zhang and Li.
FAU - Wang, Shuhang
AU  - Wang S
AD  - Key Laboratory of Carcinogenesis and Translational Research (Ministry of 
      Education), Department of Cell Biology, Peking University Cancer Hospital and 
      Institute, Beijing, China.
FAU - Fang, Yuan
AU  - Fang Y
AD  - Clinical Cancer Center, National Cancer Center/National Clinical Research Center 
      for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Jiang, Ning
AU  - Jiang N
AD  - Clinical Cancer Center, National Cancer Center/National Clinical Research Center 
      for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Xing, Shujun
AU  - Xing S
AD  - Clinical Cancer Center, National Cancer Center/National Clinical Research Center 
      for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
FAU - Li, Qin
AU  - Li Q
AD  - Department of Medical Center, Geneplus-Beijing Institute, Beijing, China.
FAU - Chen, Rongrong
AU  - Chen R
AD  - Department of Medical Center, Geneplus-Beijing Institute, Beijing, China.
FAU - Yi, Xin
AU  - Yi X
AD  - Department of Medical Center, Geneplus-Beijing Institute, Beijing, China.
FAU - Zhang, Zhiqian
AU  - Zhang Z
AD  - Key Laboratory of Carcinogenesis and Translational Research (Ministry of 
      Education), Department of Cell Biology, Peking University Cancer Hospital and 
      Institute, Beijing, China.
FAU - Li, Ning
AU  - Li N
AD  - Clinical Cancer Center, National Cancer Center/National Clinical Research Center 
      for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union 
      Medical College, Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20210225
PL  - Switzerland
TA  - Front Immunol
JT  - Frontiers in immunology
JID - 101560960
RN  - 0 (Biomarkers, Tumor)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Biomarkers, Tumor/genetics
MH  - Child
MH  - Child, Preschool
MH  - China
MH  - Female
MH  - Gene Expression Profiling/*methods
MH  - Genomics/*methods
MH  - High-Throughput Nucleotide Sequencing
MH  - Humans
MH  - Immunotherapy/*methods
MH  - Infant
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Neoplasms/*genetics/*pathology
MH  - Rare Diseases
MH  - Young Adult
PMC - PMC7959707
OTO - NOTNLM
OT  - HLA-I
OT  - PD-L1
OT  - TMB
OT  - immunotherapy
OT  - rare tumors
COIS- 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- 2021/03/19 06:00
MHDA- 2021/09/16 06:00
PMCR- 2021/01/01
CRDT- 2021/03/18 06:47
PHST- 2020/11/20 00:00 [received]
PHST- 2021/01/18 00:00 [accepted]
PHST- 2021/03/18 06:47 [entrez]
PHST- 2021/03/19 06:00 [pubmed]
PHST- 2021/09/16 06:00 [medline]
PHST- 2021/01/01 00:00 [pmc-release]
AID - 10.3389/fimmu.2021.631483 [doi]
PST - epublish
SO  - Front Immunol. 2021 Feb 25;12:631483. doi: 10.3389/fimmu.2021.631483. eCollection 
      2021.