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December 2022


Molecular Genetic Pathology

Clinical History

The patient is a middle-aged female with elevated liver enzymes. CT abdomen demonstrated multiple liver lesions with the largest mass measuring 7 cm. There is no primary neoplastic abnormality identified within the abdomen. She underwent a core needle biopsy of her liver lesion. Microscopic examination confirmed a moderately differentiated adenocarcinoma which was clinically consistent with an intrahepatic cholangiocarcioma (Figure 1). A formalin-fixed, paraffin embedded tissue block of the core needle biopsy was sent for next generation sequencing (NGS) and an oncogenic NRG1 gene fusion was detected. Finally, the patient was started on targeted drug therapy with Seribantumab.

Figure 1: H&E Image of the Liver Lesion Biopsy

Figure 1: H&E Image of the Liver Lesion Biopsy

Molecular Analysis

Molecular profiling of the patient's liver lesion was performed using the Cedars-Sinai comprehensive cancer panel, which is a targeted amplicon based NGS assay that utilizes DNA and RNA to detect single nucleotide variations, indels, copy number variations, and select rearrangements (inter and intragenic) as well as tumor mutational burden. Genomic profiling detected alterations including loss-of-function variants of ARID1A and ERRFI1, as well as an VTCN1::NRG1 fusion.

Table 1: Pathogenic Variants Detected

Figure 1: H&E Image of the Liver Lesion Biopsy