Molecular Characteristics and Immunogenomic Profiling of Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma in a 68-year-old Patient

• Published in: Anticancer research Vol. 42; no. 11; pp. 5475 - 5478
• Main Authors: HUANG, GRACE, HOWARD, LEONARD N., ALONSOZANA, EDGAR, SILL, DAVID, BOSE, DEBASHISH, LAI, JINPING
• Format: Journal Article
• Language: English
• Published: Athens International Institute of Anticancer Research 01.11.2022
• Subjects: Biliary tract; Cancer; Chemotherapy; Cholangiocarcinoma; Cytokeratin; Cytology; Cytoplasm; Gene fusion; Gene sequencing; Genomics; Immune system; Inhibin; Insulinoma; Liver; Magnetic resonance imaging; Metastases; Metastasis; Neuroendocrine tumors; Nucleus accumbens; Patients; Proteins; Synaptophysin; Tomography; Transcription factors; Tumor cells; Tumors
• ISSN: 0250-7005; 1791-7530; 1791-7530
• DOI: 10.21873/anticanres.16052

Background/Aim: Cholangioblastic variant of intrahepatic cholangiocarcinoma (CVICC) is an exceedingly rare primary biliary tract tumor and typically occurs in young patients with a median age of 24.5-year-old. It can mimic metastatic well-differentiated neuroendocrine tumors in the liver with its similar histologic and immunophenotypic features. Case Report: We hereby report a CVICC in a 68-year-old female patient with distinctive biphasic cytologic features. The patient was diagnosed and treated as a metastatic well differentiated neuroendocrine tumor. The recurrent liver tumor was resected and the tumor cells were strongly positive for Inhibin A and cytokeratin 19 (CK19), focally and weakly positive for synaptophysin and chromogranin, and negative for Insulinoma associated protein 1 (INSM1). Ribonucleic acid (RNA) sequencing showed that the tumor bared a characteristic Nipped-B-like protein (NIPBL)-Nucleus accumbens-associated protein 1 (NACC1) gene fusion. Conclusion: To the best of our knowledge, this is the first documented case in an elder patient of this entity with NIPPL-NACC1 gene fusion. Acknowledgment of the biphasic cytology, screening with Inhibin A in suspicious cases, and coupled with a molecular study may facilitate accurate classification of this aggressive tumor and lead to proper clinical management.