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番号	年度	題名	雑誌	リンクを見る
10	2023	Marked Response to Larotrectinib in Pelvic Spindle Cell Sarcoma With Concurrent TPM3-NTRK1 Fusion and CDK4/MDM2 Amplification: A Case Report Background Primary pelvic sarcoma is rare and often involves adjacent organs including rectum and urinary bladder because of the anatomic constraints of the pelvis.1 This may impede the attempts to achieve wide excision with tumor-free margins. Here, we reported that perioperative targeted therapy against tyrosine receptor kinase is a promising therapeutic approach to significantly improve surgical outcomes in huge pelvic spindle cell sarcoma with neurotrophic tyrosine receptor kinase (NTRK) gene fusion. Marked Response to Larotrectinib in Pelvic Spindle Cell Sarcoma With Concurrent TPM3-NTRK1 Fusion and CDK4/MDM2 Amplification: A Case Report リンクを見る	JCO Precision Oncology	リンクを見る
9	2022	Differentially hypomethylated cell‑free DNA and coronary collateral circulation Background: The factors affecting cardioprotective collateral circulation are still incompletely understood. Recently, characteristics, such as CpG methylation of cell-free DNA (cfDNA), have been reported as markers with clinical utility. The aim of this study was to evaluate whether cfDNA methylation patterns are associated with the grade of coronarycollateral circulation (CCC). Result: In this case–control study, clinical and angiographic data were obtained fr\|om 143 patients (mean age, 58 years, male 71%) with chronic total coronary occlusion. Enzymatic methyl-sequencing (EM-seq) libraries were prepared using the cfDNA extracted fr\|om the plasma. Data were processed to obtain the average methylation fraction (AMF) tables of genomic regions fr\|om which blacklisted regions were removed. Unsupervised analysis of the obtained AMF values showed that some of the changes in methylation were due to CCC. Differentially hypomethylated cell‑free DNA and coronary collateral circulation リンクを見る	Clinical Epigenetics	リンクを見る
8	2022	Dynamic changes in longitudinal circulating tumour DNA profile during metastatic colorectal cancer treatment BackgroundCirculating tumour DNA (ctDNA) has been spotlighted as an attractive biomarker because of its easy accessibility and real-time representation of tumour genetic profile. However, the clinical utility of longitudinal ctDNA monitoring has not been clearly defined.MethodsSerial blood samples were obtained fr\|om metastatic colorectal cancer patients undergoing first-line chemotherapy. ctDNA was sequenced using a targeted next-generation sequencing platform which included 106 genes. Changes in ctDNA profile and treatment outcome were comprehensively analysed.ResultsA total of 272 samples fr\|om 62 patients were analysed. In all, 90.3% of patients had detectable ctDNA mutation before treatment. ctDNA clearance after chemotherapy was associated with longer progression-free survival which was independent of radiological response (adjusted hazard ratio 0.22, 95% confidence interval 0.10–0.46). Longitudinal monitoring was able to detect ctDNA progression which preceded radiological progressive disease (PD) in 58.1% (median 3.3 months). Diverse resistant mutations (34.9%) and gene amplification (7.0%) at the time of PD were discovered. For 16.3% of the PD patients, the newly identified mutations could be potential candidates of targeted therapy or clinical trial.ConclusionctDNA profile provided a more accurate landscape of tumour and dynamic changes compared to radiological evaluation. Longitudinal ctDNA monitoring may improve personalised treatment decision-making. Dynamic changes in longitudinal circulating tumour DNA profile during metastatic colorectal cancer treatment リンクを見る	British Journal of Cancer	リンクを見る
7	2021	Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR Abstract Circulating tumor DNA (ctDNA) may reveal dynamic tumor status during therapy. We conducted serial ctDNA analysis to investigate potential association with clinical outcome in metastatic colorectal cancer (mCRC) patients receiving chemotherapy. Tissue KRAS/NRAS wild-type mCRC patients were enrolled and treated with first-line cetuximab-containing chemotherapy. ctDNA isolated fr\|om plasma were analyzed by next generation sequencing (NGS) with 16 targeted gene panel. Among 93 patients, 84 (90.3%) had at least 1 somatic mutation in baseline ctDNA samples (average 2.74). Five patients with KRAS or NRAS hotspot mutation in the ctDNA showed significantly worse progression-free survival (PFS) (p = 0.029). Changes in average variant allele frequency (VAF) in ctDNA showed significant correlation with tumor size change at the time of first response evaluation (p = 0.020) and progressive disease (PD) (p = 0.042). Patients whose average VAF decreased below cutoff (< 1%) at the first evaluation showed significantly better PFS (p < 0.001), and the average VAF change further discriminated the PFS in the patients in partial response (p = 0.018). At the time of PD, 54 new mutations including KRAS and MAP2K1 emerged in ctDNA. ctDNA sequencing can provide mutation profile that could better reflect tumor mutation status and predict treatment outcome. Circulating tumor DNA sequencing in colorectal cancer patients treated with first-line chemotherapy with anti-EGFR リンクを見る	Scientific Reports	リンクを見る
6	2021	Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report BACKGROUND Gastric cancer is the fifth most diagnosed cancer worldwide and the third most common cause of cancer-related death. In recent decades, increasing application of next-generation sequencing has enabled detection of molecular aberrations, including fusions. Detection of EGFR-SEPT14 fusion in cell-free DNA of a patient with advanced gastric cancer: A case report リンクを見る	World J Clin Cases	リンクを見る