Genome-Wide Mutational Landscape of Infant Acute Lymphoblastic Leukemia

The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing

Genomic characterization of pediatric acute lymphoblastic leukemia (ALL) has identified distinct patterns of genes and pathways altered in patients with well-defined genetic aberrations. To extend the spectrum of known somatic variants in ALL, we performed whole genome and transcriptome sequencing of three B-cell precursor patients, of which one carried the t(12;21)ETV6-RUNX1 translocation and ...

Infant Acute Lymphoblastic Leukemia

Acute lymphoblastic leukemia (ALL) in infants under 12 months of age accounts for about 4% of childhood ALL and differs from ALL in older children with respect to immunophenotypic, cytogenetic and molecular genetic features. In contrast to the predominance of male sex in older children with ALL, there is a slight predominance of girls in infant ALL (1). In infant leukemia, all necessary genetic...

Simultaneous Neuroblastoma and Acute Lymphoblastic Leukemia in an Infant

Genome-wide homozygosity signatures and childhood acute lymphoblastic leukemia risk.

Recent studies have reported that regions of homozygosity (ROH) in the genome are detectable in outbred populations and can be associated with an increased risk of malignancy. To examine whether homozygosity is associated with an increased risk of developing childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL), we analyzed 824 ALL cases and 2398 controls genotyped for 292 200 taggi...

Mutational profiling of acute lymphoblastic leukemia with testicular relapse

Relapsed acute lymphoblastic leukemia (ALL) is the leading cause of deaths of childhood cancer. Although relapse usually happens in the bone marrow, extramedullary relapse occasionally occurs including either the central nervous system or testis (<1-2%). We selected two pediatric ALL patients who experienced testicular relapse and interrogated their leukemic cells with exome sequencing. The seq...