PMID- 37657032
OWN - NLM
STAT- MEDLINE
DCOM- 20230904
LR  - 20230906
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Print)
IS  - 0025-7974 (Linking)
VI  - 102
IP  - 35
DP  - 2023 Sep 1
TI  - Analysis of genomic alterations in primary central nervous system lymphoma.
PG  - e34931
LID - 10.1097/MD.0000000000034931 [doi]
LID - e34931
AB  - Primary central nervous system lymphoma (PCNSL) is a rare and special type of 
      non-Hodgkin lymphoma with a significantly worse median overall prognosis than 
      that of non-Hodgkin lymphoma outside the brain. Clarifying the genomic 
      characteristics and alterations in PCNSL could provide clues regarding its 
      distinctive pathophysiology and new treatment options. However, current knowledge 
      about the genomics of PCNSL is limited. In this study, next-generation sequencing 
      (NGS) was performed to investigate the genomic profile of PCNSL. Samples from 12 
      patients diagnosed with PCNSL at our institution were analyzed for gene mutations 
      using NGS. This study showed that missense mutations were the most common 
      mutation type. C > A/G > T accounted for most of the single-base mutations, which 
      reflected the preference of the tumor sample mutation type and may serve as an 
      important prognostic factor. The most significantly mutated gene was myeloid 
      differentiation factor 88 (MYD88) (0.55), followed by CD79B, LRP1B, and PRDM1 
      (0.36). None of the cases showed a high tumor mutational burden. In addition to 
      the traditional driver genes, we also identified some new possible ones such as 
      MET, PIM1, and RSBN1L. Enrichment analysis revealed that genes mutated in PCNSL 
      were involved in many pathways and functional protein activities, such as the 
      extracellular matrix and adhesion molecules. The most common genetic alterations 
      in PCNSL were identified using NGS. Mutations in multiple genes highlights the 
      complex molecular heterogeneity of PCNSL. Enrichment analysis revealed possible 
      pathogenesis. Further exploration of new driver genes could provide novel 
      insights into diagnosis and precision medicine for PCNSL.
CI  - Copyright (c) 2023 the Author(s). Published by Wolters Kluwer Health, Inc.
FAU - He, Xin
AU  - He X
AD  - Neurosurgery, China International Neuroscience Institute, Xuanwu Hospital Capital 
      Medical University, Beijing, China.
FAU - Fan, Xiaotong
AU  - Fan X
AD  - Neurosurgery, China International Neuroscience Institute, Xuanwu Hospital Capital 
      Medical University, Beijing, China.
FAU - Shan, Yongzhi
AU  - Shan Y
AD  - Neurosurgery, China International Neuroscience Institute, Xuanwu Hospital Capital 
      Medical University, Beijing, China.
FAU - Ji, Xinrui
AU  - Ji X
AD  - Genetron Health (Beijing) Co. Ltd., Beijing, China.
FAU - Su, Lan
AU  - Su L
AD  - Genetron Health (Beijing) Co. Ltd., Beijing, China.
FAU - Wang, Yaming
AU  - Wang Y
AUID- ORCID: 0000-0002-5982-9994
AD  - Neurosurgery, China International Neuroscience Institute, Xuanwu Hospital Capital 
      Medical University, Beijing, China.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
SB  - IM
MH  - Humans
MH  - *Genomics
MH  - *Lymphoma, Non-Hodgkin
MH  - Brain
MH  - Extracellular Matrix
MH  - Health Facilities
PMC - PMC10476858
COIS- The authors declare that they have no conflict of interest.
EDAT- 2023/09/01 18:42
MHDA- 2023/09/04 06:42
PMCR- 2023/09/01
CRDT- 2023/09/01 17:33
PHST- 2023/09/04 06:42 [medline]
PHST- 2023/09/01 18:42 [pubmed]
PHST- 2023/09/01 17:33 [entrez]
PHST- 2023/09/01 00:00 [pmc-release]
AID - 00005792-202309010-00037 [pii]
AID - 10.1097/MD.0000000000034931 [doi]
PST - ppublish
SO  - Medicine (Baltimore). 2023 Sep 1;102(35):e34931. doi: 
      10.1097/MD.0000000000034931.