Cholangiocarcinoma

Jim Palma and John Hopper, Co-Chairs of NORD Rare Cancer Coalition, explain the difference between genetic testing and genomic profile testing, and why all patients with rare cancers should have a genomic profile done to select the best treatment for them based on potential genomic alteration.

In late May 2021, the FDA approved Truseltiq (infigratinib), a new targeted therapy, for adults with previously treated, unresectable, locally advanced or metastatic cholangiocarcinoma and FGFR2 fusion or other rearrangement, as detected by an FDA-approved test.

Patients with advanced bile duct cancer, or cholangiocarcinoma (CCA), have few treatment options and a generally poor prognosis. But now, a new medication called Pemazyre (pemigatinib) has been approved by the Food and Drug Administration (FDA) for the treatment of CCA that has spread to other parts of the body or that cannot be removed by surgery, providing a new treatment option for these patients, and perhaps a better outlook for their future.

Genomic alterations (mutations) characteristic of intrahepatic cholangiocarcinoma (CCA) are well-known. In this study, Jeffrey S. Ross, MD, Medical Director, Foundation Medicine, Cambridge, Massachusetts, and colleagues examined whether genomic alterations in intrahepatic CCA of a primary tumor would differ from those found in tissue from a tumor that has metastasized (spread) to other parts of the body and the alterations that are found with liquid biopsy (a test done using a blood sample).

The feasibility of IDH1 mutation detection in plasma circulating tumor-cell DNA from patients with intrahepatic cholangiocarcinoma (CCA) was demonstrated.

The combination of the PD-1 inhibitor Opdivo (nivolumab) and the CTLA-4 inhibitor Yervoy (ipilimumab) has been effective therapy for some types of solid tumor cancers, such as melanoma and lung cancer.

Preliminary results were presented from this phase 2 clinical trial by Lipika Goyal, MD, MPhil, Medical Oncologist, Tucker Gosnell Center for Gastrointestinal Cancers, Massachusetts General Hospital, Boston, at the 2020 ASCO annual meeting.