Comprehensive molecular profiling of IDH1/2 mutant biliary cancers (BC)


Francesca Battaglin, Joanne Xiu, Yasmine Baca, Anthony F. Shields, Richard M. Goldberg, Andreas Seeber, Diane Habib, Shivani Soni, Alberto Puccini, Ryuma Tokunaga, Hiroyuki Arai, Jingyuan Wang, Martin D. Berger, Igor Astaturov, Craig Lockhart, Wu Zhang, John L. Marshall, W. Michael Korn, Heinz-Josef Lenz, Anthony El-Khoueiry


This is the largest and most extensive profiling study to investigate the molecular makeup of IDH1/2 mutated BC and GI tumors. • IDH1/2 mutations are more prevalent in IHCC compared to other BC. • IDH1/2 mutations are more prevalent in BC compared to other GI malignancies. • Our data show distinct gene alteration patterns characterizing mIDH BC, involving genes related to chromatin remodeling and DNA repair, and a differential expression of immune related markers compared to other mIDH GI tumors. • These findings could contribute to the development of rational combination therapies and to improved patient selection in the future.

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