EHA Library - The official digital education library of European Hematology Association (EHA)

HIGH RESOLUTION TECHNOLOGIES IN B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA
Author(s):
Adela Escudero
,
Adela Escudero
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Pilar Carrasco
,
Pilar Carrasco
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Julián Nevado
,
Julián Nevado
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
María Palomares
,
María Palomares
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Elena Vallespín
,
Elena Vallespín
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Pablo Lapunzina
,
Pablo Lapunzina
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Lucía Fernández
,
Lucía Fernández
Affiliations:
Clinical Research,CNIO,Madrid,Spain
María Vela
,
María Vela
Affiliations:
IdiPAZ,Hospital Universitario la Paz,Madrid,Spain
Irene Gonzalo
,
Irene Gonzalo
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Berta González
,
Berta González
Affiliations:
Pediatric Hemato-Oncology,Hospital Universitario la Paz,Madrid,Spain
David Bueno
,
David Bueno
Affiliations:
Pediatric Hemato-Oncology,Hospital Universitario la Paz,Madrid,Spain
Ángela del Pozo
,
Ángela del Pozo
Affiliations:
INGEMM,Hospital Universitario la Paz,Madrid,Spain
Antonio Pérez-Martínez
Antonio Pérez-Martínez
Affiliations:
Pediatric Hemato-Oncology,Hospital Universitario la Paz,Madrid,Spain
(Abstract release date: 05/18/17) EHA Library. Escudero A. 05/18/17; 182342; PB1628
Adela Escudero
Adela Escudero
Contributions
PDF Abstract
Abstract

Abstract: PB1628

Type: Publication Only

Background

B-cell acute lymphoblastic leukemia (B-ALL), the most common pediatric malignancy and main case of childhood cancer death, resulting from accumulation of genetic aberrations. Advances in our understanding of these aberrations is useful to improve disease classification, prognosis, therapeutic purposes, and to provide an overall understanding of the pathogenesis of the B-ALL.

Aims
Genomic characterization of childhood B-ALL

Methods

We retrospectively examined bone marrow samples from 29 pediatric B-ALL using high resolution technology. We study copy number alteration (CNAs) and copy neutral loss of heterozygosity (CN-LOH) using Illumina CytoSNP-850K BeadChip in the Illumina HiScan platform. Analysis of more than 90 genes related with pediatric cancer was done using Next Generation Sequencing (NGS).

Results

Except for one, all patients showed copy number alterations. Losses were more common than gains. Whole and partial CN-LOH were observed in 12 cases. Only four recurrent genetic alterations were found: hyperdiploidy (44% of the cases), deletion of CDKN2A/B genes (22%), deletion of PAX5 gene (16%) and deletion of ETV6 (9%) gene. Several possible target genes were identified, including SESN1, NME1 and BMPR1B, but additional studies are needed to confirm their implication in the disease. We identified high diversity of mutations 30 genes, 40% of all mutations are previously described in cancer patients. We found several mutations in Jak gene family in 5 patients that could have been the subject of therapeutic intervention with specific inhibitors of these kinases.

Conclusion
NGS and SNP arrays are powerful genetics tools capable of identifying a multitude of genetic alterations associated with B-ALL. The use of SNP arrays and NGS in clinical practice can help identify new prognostic alterations and develop individualized treatment plans for affected children.

Session topic: 1. Acute lymphoblastic leukemia - Biology

Keyword(s): Therapy, Mutation, Genetic

Abstract: PB1628

Type: Publication Only

Background

B-cell acute lymphoblastic leukemia (B-ALL), the most common pediatric malignancy and main case of childhood cancer death, resulting from accumulation of genetic aberrations. Advances in our understanding of these aberrations is useful to improve disease classification, prognosis, therapeutic purposes, and to provide an overall understanding of the pathogenesis of the B-ALL.

Aims
Genomic characterization of childhood B-ALL

Methods

We retrospectively examined bone marrow samples from 29 pediatric B-ALL using high resolution technology. We study copy number alteration (CNAs) and copy neutral loss of heterozygosity (CN-LOH) using Illumina CytoSNP-850K BeadChip in the Illumina HiScan platform. Analysis of more than 90 genes related with pediatric cancer was done using Next Generation Sequencing (NGS).

Results

Except for one, all patients showed copy number alterations. Losses were more common than gains. Whole and partial CN-LOH were observed in 12 cases. Only four recurrent genetic alterations were found: hyperdiploidy (44% of the cases), deletion of CDKN2A/B genes (22%), deletion of PAX5 gene (16%) and deletion of ETV6 (9%) gene. Several possible target genes were identified, including SESN1, NME1 and BMPR1B, but additional studies are needed to confirm their implication in the disease. We identified high diversity of mutations 30 genes, 40% of all mutations are previously described in cancer patients. We found several mutations in Jak gene family in 5 patients that could have been the subject of therapeutic intervention with specific inhibitors of these kinases.

Conclusion
NGS and SNP arrays are powerful genetics tools capable of identifying a multitude of genetic alterations associated with B-ALL. The use of SNP arrays and NGS in clinical practice can help identify new prognostic alterations and develop individualized treatment plans for affected children.

Session topic: 1. Acute lymphoblastic leukemia - Biology

Keyword(s): Therapy, Mutation, Genetic

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