Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse.
IKZF1
TP53
acute lymphoblastic leukemia (ALL)
array comparative genomic hybridization (aCGH)
multiplex ligation-dependent probe amplification (MLPA)
next-generation sequencing (NGS)
relapse
Journal
Diagnostics (Basel, Switzerland)
ISSN: 2075-4418
Titre abrégé: Diagnostics (Basel)
Pays: Switzerland
ID NLM: 101658402
Informations de publication
Date de publication:
04 Jul 2020
04 Jul 2020
Historique:
received:
17
06
2020
revised:
30
06
2020
accepted:
02
07
2020
entrez:
9
7
2020
pubmed:
9
7
2020
medline:
9
7
2020
Statut:
epublish
Résumé
The clonal basis of relapse in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is complex and not fully understood. Next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) were carried out in matched diagnosis-relapse samples from 13 BCP-ALL patients to identify patterns of genetic evolution that could account for the phenotypic changes associated with disease relapse. The integrative genomic analysis of aCGH, MLPA and NGS revealed that 100% of the BCP-ALL patients showed at least one genetic alteration at diagnosis and relapse. In addition, there was a significant increase in the frequency of chromosomal lesions at the time of relapse (
Identifiants
pubmed: 32635531
pii: diagnostics10070455
doi: 10.3390/diagnostics10070455
pmc: PMC7400270
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : Consejería de educación, Junta de Castilla y León, Fondos FEDER
ID : SA085U16, SA271P18
Organisme : Proyectos de Investigación de la Gerencia Regional de Sanidad, SACYL
ID : GRS 1847/A/18; GRS 2062/A/19
Organisme : SYNtherapy
ID : ERAPERMED2018-275
Organisme : Instituto de Salud Carlos III
ID : AC18/00093
Organisme : FUCALHH
ID : FUCALHH 2017
Organisme : Centro de Investigación Biomédica en Red de Cáncer
ID : CIBERONC CB16/12/00233
Organisme : Fundación Científica Asociación Española Contra el Cáncer
ID : Análisis genómico y funcional de la Leucemia Aguda Linfoblástica y en un modelo "in vitro" de modificación genética dirigida.
Organisme : Universidad Pedagógica y Tecnológica de Colombia
ID : Maribel Forero-Castro
Organisme : Instituto de Salud Carlos III
ID : CD19/00222
Organisme : Junta de Castilla y León
ID : JCYL- EDU/556/2019
Organisme : Instituto de Salud Carlos III
ID : PI14/01971
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