Targeted resequencing of 9p in acute lymphoblastic leukemia yields concordant results with array CGH and reveals novel genomic alterations.
Genomics
; 102(3): 182-8, 2013 Sep.
Article
en En
| MEDLINE
| ID: mdl-23333812
ABSTRACT
Genetic alterations of the short arm of chromosome 9 are frequent in acute lymphoblastic leukemia. We performed targeted sequencing of 9p region in 35 adolescent and adult acute lymphoblastic leukemia patients and sought to investigate the sensitivity of detecting copy number alterations in comparison with array comparative genomic hybridization (aCGH), and besides, to detect novel genetic anomalies. We found a high concordance of copy number variations (CNVs) as detected by next generation sequencing (NGS) and aCGH. By both methodologies, the recurrent deletion at CDKN2A/B locus was identified, whereas NGS revealed additional, small regions of CNVs, seen more frequently in adult patients, while aCGH was better at detecting larger CNVs. Also, by NGS, we detected novel structural variations, novel SNVs and small insertion/deletion variants. Our results show that NGS, in addition to detecting mutations and other genetic aberrations, can be used to study CNVs.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Asunto principal:
Cromosomas Humanos Par 9
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Aberraciones Cromosómicas
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Leucemia-Linfoma Linfoblástico de Células Precursoras
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Hibridación Genómica Comparativa
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Variaciones en el Número de Copia de ADN
Límite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
Genomics
Asunto de la revista:
GENETICA
Año:
2013
Tipo del documento:
Article
País de afiliación:
Finlandia