A Novel NIPBL-NACC1 Gene Fusion Is Characteristic of the Cholangioblastic Variant of Intrahepatic Cholangiocarcinoma

We report a novel NIPBL-NACC1 gene fusion in a rare primary hepatic neoplasm previously described as the “cholangioblastic variant of intrahepatic cholangiocarcinoma.” The 2 index cases were identified within our consultation files as morphologically distinctive primary hepatic neoplasms in a 24-year-old female and a 54-year-old male. The neoplasms each demonstrated varied architecture, including trabecular, organoid, microcystic/follicular, and infiltrative glandular patterns, and biphasic cytology with large, polygonal eosinophilic cells and smaller basophilic cells. The neoplasms had a distinctive immunoprofile characterized by diffuse labeling for inhibin, and patchy labeling for neuroendocrine markers (chromogranin and synaptophysin) and biliary marker cytokeratin 19. RNA sequencing of both cases demonstrated an identical fusion of NIBPL exon 8 to NACC1 exon 2, which was further confirmed by break-apart fluorescence in situ hybridization assay for each gene. Review of a tissue microarray including 123 cases originally diagnosed as well-differentiated neuroendocrine neoplasm at one of our hospitals resulted in identification of a third case with similar morphology and immunophenotype in a 52-year-old male, and break-apart fluorescence in situ hybridization probes confirmed rearrangement of both NIPBL and NACC1. Review of The Cancer Genome Atlas (TCGA) sequencing data and digital images from 36 intrahepatic cholangiocarcinomas (www.cbioportal.org) revealed one ...
Source: The American Journal of Surgical Pathology - Category: Pathology Tags: Original Articles Source Type: research

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ConclusionsThe LODDS lymph node stage system has superior predictive performance as compared with the LNR, AJCC 7th, and 8th lymph node stage systems. Meanwhile, LODDS has a more detailed staging ability and good stability.
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
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Source: Expert Opinion on Therapeutic Targets - Category: Drugs & Pharmacology Authors: Source Type: research
Intrahepatic cholangiocarcinoma (ICC) is one of the most commonly diagnosed malignancies worldwide, and the second most common primary liver tumor. The lack of effective diagnostic and treatment methods results in poor patient prognosis and high mortality rate. Atypical protein kinase C-ι (aPKC-ι) is highly expressed in primary and metastatic ICC tissues, and regulates epithelial mesenchymal transition (EMT) through the aPKC-ι/P-Sp1/Snail signaling pathway. Recent studies have correlated aberrant glucose metabolism with EMT. Given the vital role of FBP1 in regulating glucose metabolism in cancer cells, we hy...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
aldi Fabrizio Di Francesco Intrahepatic cholangiocarcinoma (iCCA) is a rare and aggressive primary liver tumor, characterized by a range of different clinical manifestations and by increasing incidence and mortality rates even after curative treatment with radical resection. In recent years, growing attention has been devoted to this disease and some evidence supports liver transplantation (LT) as an appropriate treatment for intrahepatic cholangiocarcinoma; evolving work has also provided a framework for better understanding the genetic basis of this cancer. The aim of this study was to provide a clinical descriptio...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research
CONCLUSION: LIN28B can regulate the inflammatory response and resistance to chemotherapy of cholangiocytes through modulation of STAT3 signaling pathway.A recent study suggests that activated cholangiocytes can be induced by regulation of LIN28B/STAT3 pathway and this may partially contribute to the initiating CCA. Here, LIN28B and its downstream signaling could be considered as an attractive therapeutic target in patients with CCA.PMID:34837926 | DOI:10.31557/APJCP.2021.22.11.3671
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: The ERK signaling cascade and downstream molecules are potential targets of action of AL in CCA.PMID:34837922 | DOI:10.31557/APJCP.2021.22.11.3633
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: LIN28B can regulate the inflammatory response and resistance to chemotherapy of cholangiocytes through modulation of STAT3 signaling pathway.A recent study suggests that activated cholangiocytes can be induced by regulation of LIN28B/STAT3 pathway and this may partially contribute to the initiating CCA. Here, LIN28B and its downstream signaling could be considered as an attractive therapeutic target in patients with CCA.PMID:34837926 | DOI:10.31557/APJCP.2021.22.11.3671
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: The ERK signaling cascade and downstream molecules are potential targets of action of AL in CCA.PMID:34837922 | DOI:10.31557/APJCP.2021.22.11.3633
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: LIN28B can regulate the inflammatory response and resistance to chemotherapy of cholangiocytes through modulation of STAT3 signaling pathway.A recent study suggests that activated cholangiocytes can be induced by regulation of LIN28B/STAT3 pathway and this may partially contribute to the initiating CCA. Here, LIN28B and its downstream signaling could be considered as an attractive therapeutic target in patients with CCA.PMID:34837926 | DOI:10.31557/APJCP.2021.22.11.3671
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
CONCLUSION: The ERK signaling cascade and downstream molecules are potential targets of action of AL in CCA.PMID:34837922 | DOI:10.31557/APJCP.2021.22.11.3633
Source: Asian Pacific Journal of Cancer Prevention - Category: Cancer & Oncology Authors: Source Type: research
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