Abstract
Antigua and Barbuda is a small island nation situated in the Eastern Caribbean region and malignancy has been a leading cause of mortality in the last few years only after diabetes and heart disease.Most of the patients present to the clinic with an advanced stage disease and as such have the need to identify accurate and targeted treatment specific to the malignancy if amenable. Certain tests such as the next-generation gene sequencing have proven to be invaluable while making treatment decisions. The team decided to use the test for 10 patients as a pilot to analyze the data and its clinical usability. A total of 10 patients whose tissue or blood was sent for next-generation gene sequencing. Inclusion criteria any patient with solid tumour malignancy should be able to consent in case of minor consent from the legal parents / guardian. Exclusion criteria haematological malignancies FoundationOne (Liquid &/or Tissue) was the test used. The table illustrates the characteristics of the patient and denotes whether liquid or tissue as the mode of testing.Table: 58PPatient characteristicsSerialAgeSexPrimaryHistologyMicrosatelliteTumour mutational burdenPD-L1Genomic findings110MParotidMucoepidermoidStable3 Muts/Mb-Yes257FUterusAdenocarcinomaStable5 Muts/MbYes343FLungAdenocarcinomaNo483MPeri-AmpullaryAdenocarcinoma-1 Muts/Mb-Yes545MColonAdenocarcinoma---Yes663FColonAdenocarcinoma-1 Muts/Mb+Yes770FColonAdenocarcinomaStable3 Muts/MbYes840FUterusAdenocarcinomaHigh16 Muts/Mb+Yes960MColonNeuroendocrine---No1043FColonAdenocarcinomaStable3 Muts/Mb+Yes Open table in a new tab Age: The youngest was 10yrs and the oldest was 83yrs of age. The mean age was 51yrs. Sex: The study included 4 males and 6 females. Histopathology: colon primary was predominantly tested followed by endometrium. Adenocarcinoma were predominant; y studied. Microsatellite stability: All were microsatellite stable with only one as high. Tumour mutational burden: All were less than 5 Muts/Mb with exception of one which was at 16 Muts/Mb and this correlated with the high microsatellite status. Clinically actionable outcomes: 8 of 10 patients had a genomic finding which helped with the clinical decision making for selection of agents for treatment. This is quite significant as the treatment can be individualized to provide targeted treatment options to the patient. The small cohort of patient samples in the study proves the significance of the advanced validated tests such as the next-generation gene sequencing. This provides clinicians with more options than the standard treatment regimens of chemotherapy and helps to individualize the treatment options. There must be caution in this approach as the clinician has to bear in mind the financial implications and the results are in vitro and, given the tumor micro-environment is highly mutating, the standard chemotherapy drugs would still be the options to considered alongside the targeted agents. Next-generation gene sequencing is definitely the future of high-precision oncological practice.
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