Abstract:
:Multiple myeloma is a plasma cell blood cancer with frequent chromosomal translocations leading to gene fusions. To determine the clinical relevance of fusion events, we detect gene fusions from a cohort of 742 patients from the Multiple Myeloma Research Foundation CoMMpass Study. Patients with multiple clinic visits enable us to track tumor and fusion evolution, and cases with matching peripheral blood and bone marrow samples allow us to evaluate the concordance of fusion calls in patients with high tumor burden. We examine the joint upregulation of WHSC1 and FGFR3 in samples with t(4;14)-related fusions, and we illustrate a method for detecting fusions from single cell RNA-seq. We report fusions at MYC and a neighboring gene, PVT1, which are related to MYC translocations and associated with divergent progression-free survival patterns. Finally, we find that 4% of patients may be eligible for targeted fusion therapies, including three with an NTRK1 fusion.
journal_name
Nat Communjournal_title
Nature communicationsauthors
Foltz SM,Gao Q,Yoon CJ,Sun H,Yao L,Li Y,Jayasinghe RG,Cao S,King J,Kohnen DR,Fiala MA,Ding L,Vij Rdoi
10.1038/s41467-020-16434-ysubject
Has Abstractpub_date
2020-05-29 00:00:00pages
2666issue
1issn
2041-1723pii
10.1038/s41467-020-16434-yjournal_volume
11pub_type
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