Angioimmunoblastic T-cell lymphoma: Novel recurrent mutations and prognostic biomarkers by cell-free DNA profiling.
angioimmunoblastic T-cell lymphoma
cell-free DNA
predictive biomarker
prognosis
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
revised:
16
08
2023
received:
15
06
2023
accepted:
21
08
2023
medline:
29
11
2023
pubmed:
30
8
2023
entrez:
30
8
2023
Statut:
ppublish
Résumé
Molecular and clinical stratification of patients with angioimmunoblastic T-cell lymphoma (AITL) is unsatisfactory, which hinders the development of personalized therapies. This study aimed to identify molecular biomarkers for AITL based on peripheral cell-free DNA (cfDNA) that could be used to predict prognosis and guide treatment non-invasively. A customized panel containing 46 genes was used to study pretreatment cfDNA and paired tumour tissues in 64 Chinese AITL patients from three clinical centres, and gene mutations in cfDNA and tumour tissue were assessed for concordance (34 paired samples). Then, the association of gene mutations and prognosis was analysed, and a functional enrichment analysis was performed. The sequencing results showed good consistency between cfDNA samples and paired tissue samples. KDM5A, STAT1, FANCM, ERBB4, PIK3R5 and NSD1 were identified as novel recurrent mutations. Mutations in FANCM or combinations of RHOA, KDM5A and FAT1 were associated with poor prognosis. Additionally, functional analysis revealed that RHOA
Substances chimiques
Cell-Free Nucleic Acids
0
KDM5A protein, human
EC 1.14.11.-
Retinoblastoma-Binding Protein 2
EC 1.14.11.27
FANCM protein, human
EC 3.6.1.-
DNA Helicases
EC 3.6.4.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
807-819Subventions
Organisme : Sichuan Science and Technology Department for Key Research and Development Projects
ID : 2019YFS0027
Organisme : Chengdu Medical Research Project
ID : 2020077
Informations de copyright
© 2023 British Society for Haematology and John Wiley & Sons Ltd.
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