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Spatial genomic heterogeneity in multiple myeloma revealed by multi- region sequencing

The bone-marrow (BM) containing skeletal system is the reservoir of Multiple Myeloma (MM), the malignant counterpart of antibody-secreting plasma cells. To gain insight into its spatial clonal architecture, we performed multi-region whole-exome sequencing of radiology-guided fine-needle aspirates from 51 MM patients. We found spatial genomic heterogeneity in a substantial proportion of cases including bi-allelic inactivation of tumor suppressors and mutations affecting cancer genes. The amount of heterogeneous mutations associated with the size of focal tumor lesions in whole body imaging consistent with focal outgrowth of highly advanced clones. In conclusion, our results support the regional initiation of transformation processes leading to high-risk disease as well as the pre-existence of key driver events in restricted areas. As such, our study does not only provide new insights in the underlying biology of MM progression but also has considerable implications for standard diagnostic approaches in the clinic.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
EGAD00001003988 Illumina HiSeq 2000 176
Publications Citations
Spatial genomic heterogeneity in multiple myeloma revealed by multi-region sequencing.
Nat Commun 8: 2017 268
Accelerated single cell seeding in relapsed multiple myeloma.
Nat Commun 11: 2020 3617
Resolving the spatial architecture of myeloma and its microenvironment at the single-cell level.
Nat Commun 14: 2023 5011