Patterns of Whole Exome Sequencing in Resected Cholangiocarcinoma

Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholan...

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Bibliographic Details
Published in:Cancers 2021-08, Vol.13 (16), p.4062
Main Authors: Thornblade, Lucas W., Wong, Paul, Li, Daneng, Warner, Susanne G., Chang, Sue, Raoof, Mustafa, Kessler, Jonathan, Amini, Arya, Lin, James, Chung, Vincent, Singh, Gagandeep, Fong, Yuman, Melstrom, Laleh G.
Format: Article
Language:English
Subjects:
Bile ducts
Cancer therapies
Chemotherapy
Cholangiocarcinoma
Clinical trials
Demographics
Fibroblast growth factor receptors
Genes
Genomics
Immunotherapy
Medical prognosis
Mutation
p53 Protein
Patients
Precision medicine
Radiation therapy
Risk factors
Surgery
Tumors
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Summary:Background: With minimally effective chemotherapy options, cholangiocarcinoma patients have 5 year survival rate of 10%. Tumor genetic profiling (TGP) can identify mutations susceptible to targeted therapies. We sought to describe the use of TGP and frequency of actionable results in resected cholangiocarcinoma. Methods: A retrospective review of patients undergoing curative intent resection at a comprehensive cancer center (2010–2020). Clinicopathologic and partial or whole exome sequencing data were reviewed. Results: 114 patients (mean age 65 ± 11 years, 45% female) underwent resection of cholangiocarcinoma (46% poorly differentiated, 54% intrahepatic, 36% node positive, 75% margin negative). Additionally, 32% of patients underwent TGP, yielding a mean of 3.1 actionable mutations per patient (range 0–14). Mutations aligned with a median of one drug per patient (range 0–11). Common mutations included TP53 (33%), KRAS (31%), IDH1/2 (14%), FGFR (14%), and BRAF (8%). Targeted therapies were administered in only 4% of patients (23% of eligible sequenced patients). After a median 22 months, 23% had recurrence and 29% were deceased. Discussion: TGP for cholangiocarcinoma has increased over the last decade with targeted therapies identified in most sequenced tumors, impacting treatment in a quarter of eligible patients. Precision medicine will play a central role in the future care of cholangiocarcinoma.
ISSN:2072-6694
2072-6694
DOI:10.3390/cancers13164062