ABSTRACT
We evaluate microsatellite instability-high (MSI-H) status with cell-free DNA (cfDNA) in metastatic breast cancer (MBC) and the association with clinico-genomic characteristics. Patients with MSI-H in cfDNA (Guardant360®, 74 gene next-generation sequencing (NGS) with MBC are identified. We conduct a retrospective review. The median number of alterations and a median maximum mutant allelic fraction (MAF) in MSI-H and non-MSI-H cohorts are compared with Mann-Whitney U-test. Of 6718 patients with breast cancer with ≥1 plasma NGS alteration, 42 (0.63%) have MSI-H. A median number of genomic alterations per sample is 11 in MSI-H vs. 3 in non-MSI-H (Mann-Whitney U-test p < 0.0001) and the median maximum MAF is 16.8% in MSI-H vs. 2.6% in non-MSI-H (Mann-Whitney U-test p < 0.0001). The co-existing genomic landscape is heterogeneous. The median response duration for seven patients receiving immunotherapy is 92 days (range 29-273 days). CfDNA can identify MSI-H in MBC. Research is needed to validate immunotherapy usage in cfDNA-detected MSI-H MBC.
ABSTRACT
PURPOSE: Levels of adherence to pancreatic enzyme supplementation were investigated in Atlantic Canada adolescents with cystic fibrosis (CF). METHODS: Participants were recruited from CF clinics at the Izaak Walton Killam Health Centre in Halifax, Nova Scotia, and the Janeway Children's Health & Rehabilitation Centre in St. John's, Newfoundland and Labrador. Self-report questionnaires were mailed to potential participants (n=51) by clinic staff and completed surveys (n=9) were mailed to the principal investigator. RESULTS: Nine adolescents (mean age 15.2 ± 1.9 years) participated in the study. The adherence survey indicated that the majority perceived themselves to be adherent to taking enzymes with meals (67%), but only 44% perceived themselves to be adherent to taking enzymes with snacks. Recorded amounts of enzymes, taken over three days, indicated that 67% of participants were actually adherent to taking enzymes with meals and 56% with snacks. Including those who correctly predicted non-adherence, 56% and 44% of participants accurately predicted their adherence to taking enzymes with meals and snacks, respectively. CONCLUSIONS: Adherence rates in the literature vary because of differences in definition and measurement. In the CF population, adherence has been shown to have a positive effect on quality of life. Results for this small group of patients suggest that Atlantic Canada adolescents with CF are able to estimate correctly their adherence to taking pancreatic enzymes, but definite conclusions cannot be made because of the small number of respondents.
