Table 1.

Clinical data and detailed genetic profiles obtained by combining karyotype, genome-wide DNA array analysis, whole exome (WES) and targeted next-generation sequencing for the 15 JMML patients who were studied using xenotransplantation in mouse

Each column highlights the condensed data for a single patient at diagnosis

WBC whole blood cell count, HbF fetal hemoglobin, HSCT hematopoietic stem cell transplantation, ND not done, N/A not applicable, SNV single-nucleotide variation, CNV copy number variation, aUPD acquired uniparental disomy, VAF variant allele frequency

Dash: two mutations on the same gene

*Subclonal alteration (VAF < 20%); I: Hemizygous alteration