08 May 2018

Genetic analysis of blood biopsies may provide a new, cost-effective means of personalised disease profiling in multiple myeloma, a newly published study has revealed.

Scientists from Dana-Farber Cancer Institute and the Broad Institute of MIT and Harvard, Boston, Massachusetts, USA, have shown that two ways to measure multiple myeloma DNA in blood samples provide highly detailed sets of genetic information.

The results are published in Nature Communications.

Co-senior author Dr Irene Ghobrial, an oncologist at Dana-Farber, explained the significance of the findings.

"Until now, we haven't had a good way to measure how multiple myeloma cell populations evolve from precursor stages to diagnosed disease, and then respond to treatments,” she said.

"This is where blood biopsies can make a huge difference, extending our understanding of multiple myeloma, and really giving us a timeline of how the disease progresses and responds to therapy."

The research team examined blood biopsies that gathered multiple myeloma tumour DNA from two sources: circulating free DNA (cfDNA) and circulating tumour cells (CTCs).

"Our discovery that cfDNA and CTC analyses agree with each other at the comprehensive level is an important finding, because this means that routine genetic profiling of patient tumours from blood would be feasible," added Dr Ghobrial.

Dr Viktor Adalsteinsson, group leader of the blood biopsy team at the Broad Institute and co-senior author on the paper, said the two-step approach comprised an ultra-low pass’ whole genome sequencing - a cost-effective method to identify blood samples with tumour DNA fraction of at least 5-10%, allowing more comprehensive genetic analysis. This was followed by whole exome sequencing.

They examined cfDNA from 107 patients and CTCs from 56 patients and matched up cfDNA with bone marrow data from nine patients, comparing all three forms of biopsy in four additional patients.

Overall, the gene profiles overlapped closely, with about 99% agreement between liquid and bone marrow biopsies for tumour gene mutations.

Employing both techniques might further increase the chances of understanding the disease in each patient, the team believes.

Dr Salomon Manier, co-first author, said it is possible that blood biopsies will offer more comprehensive genetic information than bone marrow tests because knowing the entire genetic spectrum of disease is essential for any individualised treatment.

 “We can't do personalised medicine with a single bone marrow biopsy,” he said. “We need these blood biopsies to help guide treatment, because patients' tumours change over time.”

Dr Ghobrial said they now need to develop clinical tools that become part of routine testing.

Source: Manier, S., Park, J., Capelletti, M., Bustoros, M., Freeman, S.S., Ha, G., Rhoades, J., Liu, C.J., Huynh, D., Reed, S.C. and Gydush, G., 2018. Whole-exome sequencing of cell-free DNA and circulating tumor cells in multiple myeloma. Nature Communications, 9(1), pp.1691-1691.

Link: https://www.nature.com/articles/s41467-018-04001-5


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