The use of cell free DNA (cfDNA) for mutational screening of multiple myeloma

A-M Joëlle Marivel; Yafeng Ma; Therese M Becker; Anvita Verma; Steven Trieu; Tara L Roberts; Silvia C W Ling

doi:10.1016/j.lrr.2023.100393

The use of cell free DNA (cfDNA) for mutational screening of multiple myeloma

Leuk Res Rep. 2023 Oct 21:20:100393. doi: 10.1016/j.lrr.2023.100393. eCollection 2023.

Authors

A-M Joëlle Marivel^{1

2

3

4

5}, Yafeng Ma^{2

3

4

5}, Therese M Becker^{2

3

4

5}, Anvita Verma^{1

2}, Steven Trieu^{2

5}, Tara L Roberts^{2

4

5}, Silvia C W Ling^{1

2

4

5}

Affiliations

¹ NSW Health Pathology, Liverpool Hospital, Liverpool, NSW 2170, Australia.
² Ingham Institute for Applied Medical Research, 1 Campbell St, Liverpool, NSW 2170, Australia.
³ Centre for Circulating Tumour Cell Diagnostics & Research (CCDR) at the Ingham Institute for Applied Medical Research, Liverpool, NSW 2170, Australia.
⁴ Western Sydney University, School of Medicine, Campbelltown, NSW 2560, Australia.
⁵ South Western Sydney Clinical School, University of New South Wales, Liverpool, NSW 2170, Australia.

Abstract

Multiple myeloma (MM) is an incurable haematological malignancy which relies heavily on bone marrow biopsies for disease monitoring and prediction of treatment response. In recent years, liquid biopsy derived cell-free DNA (cfDNA) has emerged as alternative for invasive biopsies. This pilot study aimed to evaluate the feasibility of using cfDNA for the detection of oncogenic mutations in the mitogen-activated protein kinase (MAPK) pathway genes NRAS, KRAS, and BRAF in MM patients. Matched peripheral blood and bone marrow aspirates were collected from thirteen MM patients at various disease stages. cfDNA was isolated using the Qiagen Circulating Nucleic Acid Kit while bone marrow DNA was extracted using the Maxwell Promega platform. The presence of NRAS, KRAS, and BRAF mutations was analysed by ddPCR and compared between the cfDNA and gDNA samples. Although our data come from a small patient cohort, mutations were detected, which supports cfDNA utility for mutational screening and prognostication in MM.