PRJNA560392
Homo sapiens Transcriptome or Gene expression
We report a female carrier of an ATRX germline mutation with a strong family history of malignancy who developed a highly aggressive pre-B ALL. Notably, the leukemia could not be attributed to the ATRX mutation because the leukemic blasts consistently retained an inactive X-chromosome bearing the mutant ATRX. Instead, the leukemia cells demonstrated numerous non-ATRX mutations, which may explain pathophysiology of this highly aggressive and refractory leukemia. We submit the sequencing data which includes whole genome sequencing of tumor samples (sorted leukemic blasts from pre-transplant and post-transplant time points) and germ line control (T cells) as well as whole transcriptome RNAseq data of tumor samples (sorted leukemic blasts from pre-transplant and post-transplant time points), normal cell control (peripheral blood), and normal B cells from the stem cell donor.