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Int. J. Mol. Sci. 2018, 19(7), 1858; https://doi.org/10.3390/ijms19071858

Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma

1
Myeloma Research Group, Australian Centre for Blood Diseases, Alfred Hospital–Monash University, Melbourne 3004, Australia
2
Malignant Haematology and Stem Cell Transplantation, Alfred Hospital, Melbourne 3004, Australia
3
Department of Clinical Haematology, Monash University, Clayton 3800, Australia
*
Author to whom correspondence should be addressed.
Received: 7 June 2018 / Revised: 21 June 2018 / Accepted: 22 June 2018 / Published: 24 June 2018
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Abstract

Mutational characterisation in extramedullary multiple myeloma (EM-MM) patients is challenging due to inaccessible EM plasmacytomas, unsafe nature of multiple biopsies and the spatial and temporal genomic heterogeneity apparent in MM (Graphical abstract). Conventional monitoring of disease burden is through serum markers and PET-CT, however these modalities are sometimes inadequate (serum markers), not performed in a timely manner (PET-CT) and uninformative for identifying mutations driving disease progression. DNA released into the blood by tumour cells (ctDNA) contains the predominant clones derived from the multiple disease foci. Blood-derived ctDNA can, therefore, provide a holistic illustration of the major drivers of disease progression. In this report, the utility of ctDNA, as an adjunct to currently available modalities in EM-MM, is presented for a patient with EM and oligosecretory (OS) disease. Whole exome sequencing of contemporaneously acquired tumour tissue and matched ctDNA samples revealed the presence of spatial and temporal genetic heterogeneity and the identification of pathways associated with drug resistance. Longitudinal monitoring of plasma samples revealed that ctDNA can be utilised to define the dynamic clonal evolution co-existent with disease progression and as an adjunct non-invasive marker of tumour burden. View Full-Text
Keywords: cell-free DNA; ctDNA; extramedullary MM; whole exome sequencing; spatial heterogeneity; digital PCR cell-free DNA; ctDNA; extramedullary MM; whole exome sequencing; spatial heterogeneity; digital PCR
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

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Mithraprabhu, S.; Sirdesai, S.; Chen, M.; Khong, T.; Spencer, A. Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma. Int. J. Mol. Sci. 2018, 19, 1858.

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