TY - JOUR
T1 - Molecular profiling of intrahepatic and extrahepatic cholangiocarcinoma using next generation sequencing
AU - Putra, Juan
AU - de Abreu, Francine B.
AU - Peterson, Jason D.
AU - Pipas, J. Marc
AU - Mody, Kabir
AU - Amos, Christopher I.
AU - Tsongalis, Gregory J.
AU - Suriawinata, Arief A.
N1 - Publisher Copyright:
© 2015 Elsevier Inc.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - 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.
AB - 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.
KW - Extrahepatic cholangiocarcinoma
KW - Intrahepatic cholangiocarcinoma
KW - Next generation sequencing
KW - Somatic mutations
KW - Targeted therapy
UR - http://www.scopus.com/inward/record.url?scp=84938079607&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84938079607&partnerID=8YFLogxK
U2 - 10.1016/j.yexmp.2015.07.005
DO - 10.1016/j.yexmp.2015.07.005
M3 - Article
C2 - 26189129
AN - SCOPUS:84938079607
VL - 99
SP - 240
EP - 244
JO - Experimental and Molecular Pathology
JF - Experimental and Molecular Pathology
SN - 0014-4800
IS - 2
ER -