Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing

Juan Putra; Francine B. de Abreu; Jason D. Peterson; J. Marc Pipas; Kabir Mody; Christopher I. Amos; Gregory J. Tsongalis; Arief A. Suriawinata

doi:10.1016/j.yexmp.2015.07.005

Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing

Juan Putra, Francine B. de Abreu, Jason D. Peterson, J. Marc Pipas, Kabir Mody, Christopher I. Amos, Gregory J. Tsongalis, Arief A. Suriawinata

Research output: Contribution to journal › Article

25 Scopus citations

Abstract

Cholangiocarcinoma is a heterogeneous malignant process, which is further classified into intrahepatic cholangiocarcinoma (ICC) and extrahepatic cholangiocarcinoma (ECC). The poor prognosis of the disease is partly due to the lack of understanding of the disease mechanism. Multiple gene alterations identified by various molecular techniques have been described recently. As a result, multiple targeted therapies for ICC and ECC are being developed. In this study, we identified and compared somatic mutations in ICC and ECC patients using next generation sequencing (NGS) (Ampliseq Cancer Hotspot Panel v2 and Ion Torrent 318v2 chips). Eleven of 16 samples passed internal quality control established for NGS testing. ICC cases (n. =. 3) showed IDH1 (33.3%) and NRAS (33.3%) mutations. Meanwhile, TP53 (75%), KRAS (50%), and BRAF (12.5%) mutations were identified in ECC cases (n. =. 8). Our study confirmed the molecular heterogeneity of ICC and ECC using NGS. This information will be important for individual patients as targeted therapies for ICC and ECC become available in the future.

Original language	English (US)
Pages (from-to)	240-244
Number of pages	5
Journal	Experimental and Molecular Pathology
Volume	99
Issue number	2
DOIs	https://doi.org/10.1016/j.yexmp.2015.07.005
State	Published - Oct 1 2015
Externally published	Yes

Keywords

Extrahepatic cholangiocarcinoma
Intrahepatic cholangiocarcinoma
Next generation sequencing
Somatic mutations
Targeted therapy

ASJC Scopus subject areas

Clinical Biochemistry
Molecular Biology
Pathology and Forensic Medicine

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Putra, J., de Abreu, F. B., Peterson, J. D., Pipas, J. M., Mody, K., Amos, C. I., Tsongalis, G. J., & Suriawinata, A. A. (2015). Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing. Experimental and Molecular Pathology, 99(2), 240-244. https://doi.org/10.1016/j.yexmp.2015.07.005

Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing. / Putra, Juan; de Abreu, Francine B.; Peterson, Jason D.; Pipas, J. Marc; Mody, Kabir; Amos, Christopher I.; Tsongalis, Gregory J.; Suriawinata, Arief A.

In: Experimental and Molecular Pathology, Vol. 99, No. 2, 01.10.2015, p. 240-244.

Research output: Contribution to journal › Article

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abstract = "Cholangiocarcinoma is a heterogeneous malignant process, which is further classified into intrahepatic cholangiocarcinoma (ICC) and extrahepatic cholangiocarcinoma (ECC). The poor prognosis of the disease is partly due to the lack of understanding of the disease mechanism. Multiple gene alterations identified by various molecular techniques have been described recently. As a result, multiple targeted therapies for ICC and ECC are being developed. In this study, we identified and compared somatic mutations in ICC and ECC patients using next generation sequencing (NGS) (Ampliseq Cancer Hotspot Panel v2 and Ion Torrent 318v2 chips). Eleven of 16 samples passed internal quality control established for NGS testing. ICC cases (n. =. 3) showed IDH1 (33.3%) and NRAS (33.3%) mutations. Meanwhile, TP53 (75%), KRAS (50%), and BRAF (12.5%) mutations were identified in ECC cases (n. =. 8). Our study confirmed the molecular heterogeneity of ICC and ECC using NGS. This information will be important for individual patients as targeted therapies for ICC and ECC become available in the future.",

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