The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Kajsa Paulsson; Henrik Lilljebjörn; Andrea Biloglav; Linda Olsson; Marianne Rissler; Anders Castor; Gisela Barbany; Linda Fogelstrand; Ann Nordgren; Helene Sjögren; Thoas Fioretos; Bertil Johansson

doi:10.1038/ng.3301

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Kajsa Paulsson, Henrik Lilljebjörn, Andrea Biloglav, Linda Olsson, Marianne Rissler, Anders Castor, Gisela Barbany, Linda Fogelstrand, Ann Nordgren, Helene Sjögren, Thoas Fioretos, Bertil Johansson

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Abstract

High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.

Original language	English
Pages (from-to)	672-676
Journal	Nature Genetics
Volume	47
Issue number	6
DOIs	https://doi.org/10.1038/ng.3301
Publication status	Published - 2015

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Medical Genetics and Genomics (including Gene Therapy)

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NPG_Paulsson_et_al

http://www.ncbi.nlm.nih.gov/pubmed/25961940?dopt=Abstract

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title = "The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.",

abstract = "High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.",

author = "Kajsa Paulsson and Henrik Lilljebj{\"o}rn and Andrea Biloglav and Linda Olsson and Marianne Rissler and Anders Castor and Gisela Barbany and Linda Fogelstrand and Ann Nordgren and Helene Sj{\"o}gren and Thoas Fioretos and Bertil Johansson",

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doi = "10.1038/ng.3301",

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T1 - The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

AU - Paulsson, Kajsa

AU - Lilljebjörn, Henrik

AU - Biloglav, Andrea

AU - Olsson, Linda

AU - Rissler, Marianne

AU - Castor, Anders

AU - Barbany, Gisela

AU - Fogelstrand, Linda

AU - Nordgren, Ann

AU - Sjögren, Helene

AU - Fioretos, Thoas

AU - Johansson, Bertil

PY - 2015

Y1 - 2015

N2 - High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.

AB - High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.

U2 - 10.1038/ng.3301

DO - 10.1038/ng.3301

M3 - Article

C2 - 25961940

SN - 1546-1718

VL - 47

SP - 672

EP - 676

JO - Nature Genetics

JF - Nature Genetics

IS - 6

ER -

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Abstract

Subject classification (UKÄ)

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