Tracking the evolution of Therapy-Related Myeloid Neoplasms using chemotherapy signatures

Study ID Alternative Stable ID Type
EGAS00001006903 Other

Study Description

Patients treated with cytotoxic therapies, including autologous stem cell transplantation, are at risk for developing therapy-related myeloid neoplasms (tMN). Pre-leukemic clones (i.e., clonal hematopoiesis; CH) are detectable years before the development of these aggressive malignancies, though the genomic events leading to transformation and expansion are not well-defined. Here, leveraging distinctive chemotherapy-associated mutational signatures from whole-genome sequencing data and targeted sequencing of pre-chemotherapy samples, we reconstruct the evolutionary life-history of 39 therapy-related myeloid malignancies. A dichotomy is revealed, in which neoplasms with evidence of chemotherapy-induced mutagenesis from platinum and melphalan are hypermutated and enriched for complex structural variants (i.e., chromothripsis) while neoplasms with non-mutagenic chemotherapy exposures are genomically similar to de novo acute myeloid leukemia. Using chemotherapy-associated mutational signatures as temporal barcodes linked to a discrete clinical exposure in each patient’s life, we ... (Show More)

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
The dataset consists of: 51 paired tumor/normal WGS samples (26 tumors and 25 normals), and 13 normal targeted samples.
Illumina NovaSeq 6000 64

Who archives the data?

There are no publications available