Kevin Harrington, Professor in Biological Cancer Therapies at the Institute of Cancer Research, shared a post on LinkedIn about a paper he co-authored with colleagues published in JCO Precision Oncology:
“Congratulations to Dr Matt Church for the publication yesterday in JCO Precision Oncology of his study of whole-genome sequencing (WGS) as a means of aiding clinical diagnosis and directing therapy for patients with salivary gland cancers (SGC).
Fifteen participants with relapsed/metastatic SGC underwent tumour biopsy and blood sampling to perform WGS of tumor and germline as part of their standard-of-care management. Genomic rearrangements/fusions were present in 12 of 14 assessable cases. Rearrangements involving MYB and or NFIB were identified in 8 of 10 patients with adenoid cystic cancers.
Remarkably, one patient’s tumour contained a clinically actionable fusion between FGFR1-pleomorphic adenoma gene 1 and this allowed the patient to receive and respond to fibroblast growth factor receptor–targeted therapy. Identification of other gene fusions (e.g. EWSR1-ATF1, CRTC1-MAML2) aided definitive histologic classification and, in some cases, changed the diagnosis. Small somatic alterations were identified in all but one patient. Importantly, no pathogenic germline mutations were found in this small patient cohort.
He was able to conclude that WGS in SGC is achievable in clinically relevant timeframes, with the potential to provide genomic information for deeper understanding of disease pathophysiology, to clarify histologic subtype and to identify actionable genomic targets which may not be found through routine sequencing technologies.
For those of us who regularly see people suffering from hard-to-treat salivary gland cancers, this study represents an important insight into ways in which we can develop more personalised approaches to treatment.”
Title: Clinical Utility of Whole-Genome Sequencing to Aid Histologic Diagnosis and to Direct Personalized Medicine in Salivary Gland Cancer
Authors: Matt Church, George Burghel, Guy Betts, Steven Michael Churchill, Helene Barbara Schlecht, Yatin Jain, Kevin Harrington, and Robert Metcalf
You can read the Full Article in JCO Precision Oncology.
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