Applied precision cancer medicine in metastatic biliary tract cancer

精准癌症医学在转移性胆道癌中的应用

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作者:H Taghizadeh, L Müllauer, R Mader, G W Prager

Conclusions

PCM is a feasible treatment approach and may provide molecular-guided therapy recommendations for metastatic BTC.

Methods

In this single-center, real-world retrospective analysis of our PCM platform, we describe the molecular profiling of 30 patients diagnosed with different types of metastatic BTC. Tumor samples of the patients were examined using a 161-gene next-generation sequencing panel, immunohistochemistry (IHC), and fluorescence in situ hybridization for chromosomal translocations.

Objective

In this analysis, we aimed to show the potential of PCM in metastatic BTC.

Results

In total, we identified 35 molecular aberrations in 30 patients. The predominant mutations were KRAS (n = 8), TP53 (n = 7), IDH2 (n = 4), and IDH1 (n = 3) that accounted for the majority of all molecular alterations (62.86%). BRAF mutations were observed in two patients. Less frequent alterations were noted in ARID1A, CTNNB1, ESR1, FBXW7, FGFR2, MET, NOTCH2, PIK3CA, PTCH1, SMAD4, and SRC1, each in one case. FGFR fusion gene was detected in one patient. No mutations were detected in eight patients. IHC revealed EGFR and p-mTOR expression in 28 patients. Applying these results to our patients, targeted therapy was recommended for 60% of the patients (n = 18). One patient achieved stable disease. Conclusions: PCM is a feasible treatment approach and may provide molecular-guided therapy recommendations for metastatic BTC.

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