PMID- 38408388
OWN - NLM
STAT- MEDLINE
DCOM- 20240321
LR  - 20240417
IS  - 1554-6578 (Electronic)
IS  - 0022-3069 (Linking)
VI  - 83
IP  - 4
DP  - 2024 Mar 20
TI  - A custom next-generation sequencing panel for 1p/19q codeletion and mutational 
      analysis in gliomas.
PG  - 258-267
LID - 10.1093/jnen/nlae011 [doi]
AB  - The World Health Organization has updated their classification system for the 
      diagnosis of gliomas, combining histological features with molecular data 
      including isocitrate dehydrogenase 1 and codeletion of chromosomal arms 1p and 
      19q. 1p/19q codeletion analysis is commonly performed by fluorescence in situ 
      hybridization (FISH). In this study, we developed a 57-gene targeted 
      next-generation sequencing (NGS) panel including 1p/19q codeletion detection 
      mainly to assess diagnosis and potential treatment response in melanoma, 
      gastrointestinal stromal tumor, and glioma patients. Loss of heterozygosity 
      analysis was performed using the NGS method on 37 formalin-fixed 
      paraffin-embedded glioma tissues that showed 1p and/or 19q loss determined by 
      FISH. Conventional methods were applied for the validation of some glioma-related 
      gene mutations. In 81.1% (30 of 37) and 94.6% (35 of 37) of cases, 1p and 19q 
      were found to be in agreement whereas concordance for 1p/19q codeletion and no 
      1p/19q codeletion was found in 94.7% (18 of 19) and 94.4% (17 of 18) of cases, 
      respectively. Overall, comparing NGS results with those of conventional methods 
      showed high concordance. In conclusion, the NGS panel allows reliable analysis of 
      1p/19q codeletion and mutation at the same time.
CI  - (c) The Author(s) 2024. Published by Oxford University Press on behalf of American 
      Association of Neuropathologists, Inc. All rights reserved. For permissions, 
      please email: journals.permissions@oup.com.
FAU - Qi, Peng
AU  - Qi P
AUID- ORCID: 0000-0002-5048-9604
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Yao, Qian-Lan
AU  - Yao QL
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Lao, I Weng
AU  - Lao IW
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Ren, Min
AU  - Ren M
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Bai, Qian-Ming
AU  - Bai QM
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Cai, Xu
AU  - Cai X
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Xue, Tian
AU  - Xue T
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Wei, Ran
AU  - Wei R
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
FAU - Zhou, Xiao-Yan
AU  - Zhou XY
AD  - Department of Pathology, Fudan University Shanghai Cancer Center, Shanghai, 
      China.
AD  - Department of Oncology, Shanghai Medical College, Fudan University, Shanghai, 
      China.
AD  - Institute of Pathology, Fudan University, Shanghai, China.
LA  - eng
GR  - 81502429/National Natural Science Foundation of China/
GR  - 2019CXJQ03/Innovation Group Project of Shanghai Municipal Health Commission/
GR  - 19MC1911000/Shanghai Science and Technology Development Foundation/
GR  - shslczdzk01301/Shanghai Municipal Key Clinical Specialty/
GR  - 20Z11900300/Innovation Program of Shanghai Science and Technology Committee/
GR  - SHDC2020CR3046B/Clinical Research Plan of Shanghai Hospital Development Center/
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - J Neuropathol Exp Neurol
JT  - Journal of neuropathology and experimental neurology
JID - 2985192R
RN  - EC 1.1.1.41 (Isocitrate Dehydrogenase)
SB  - IM
MH  - Humans
MH  - *Brain Neoplasms/genetics/pathology
MH  - In Situ Hybridization, Fluorescence/methods
MH  - *Glioma/genetics/pathology
MH  - Chromosome Aberrations
MH  - Mutation/genetics
MH  - High-Throughput Nucleotide Sequencing
MH  - Isocitrate Dehydrogenase/genetics
MH  - Chromosomes, Human, Pair 1/genetics
MH  - Chromosomes, Human, Pair 19/genetics
OTO - NOTNLM
OT  - 1p/19q
OT  - Fluorescence in situ hybridization
OT  - Glioma
OT  - Loss of heterozygosity
OT  - Molecular pathology
OT  - Next-generation sequencing
EDAT- 2024/02/26 18:43
MHDA- 2024/03/21 12:43
CRDT- 2024/02/26 17:53
PHST- 2024/03/21 12:43 [medline]
PHST- 2024/02/26 18:43 [pubmed]
PHST- 2024/02/26 17:53 [entrez]
AID - 7614502 [pii]
AID - 10.1093/jnen/nlae011 [doi]
PST - ppublish
SO  - J Neuropathol Exp Neurol. 2024 Mar 20;83(4):258-267. doi: 10.1093/jnen/nlae011.