Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

7 Citationer (Scopus)
108 Downloads (Pure)

Abstract

Within recent years, many precision cancer medicine initiatives have been developed. Most of these have focused on solid cancers, while the potential of precision medicine for patients with hematological malignancies, especially in the relapse situation, are less elucidated. Here, we present a demographic unbiased and observational prospective study at Aalborg University Hospital Denmark, referral site for 10% of the Danish population. We developed a hematological precision medicine workflow based on sequencing analysis of whole exome tumor DNA and RNA. All steps involved are outlined in detail, illustrating how the developed workflow can provide relevant molecular information to multidisciplinary teams. A group of 174 hematological patients with progressive disease or relapse was included in a non-interventional and population-based study, of which 92 patient samples were sequenced. Based on analysis of small nucleotide variants, copy number variants, and fusion transcripts, we found variants with potential and strong clinical relevance in 62% and 9.5% of the patients, respectively. The most frequently mutated genes in individual disease entities were in concordance with previous studies. We did not find tumor mutational burden or micro satellite instability to be informative in our hematologic patient cohort.
OriginalsprogEngelsk
Artikelnummer312
TidsskriftCancers
Vol/bind12
Udgave nummer2
Antal sider23
ISSN2072-6694
DOI
StatusUdgivet - feb. 2020

Fingeraftryk

Dyk ned i forskningsemnerne om 'Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark'. Sammen danner de et unikt fingeraftryk.

Citationsformater