Intrahepatic cholangiocarcinoma (iCCA) is one of the primary liver cancers and presents with tumor heterogeneity. About 50% of iCCAs comprise actionable mutations, which completely change patient management. In addition, the precise diagnosis of iCCA, including subtype, has become crucial, and pathologists play an important role in this regard. This review focuses on iCCA heterogeneity; looking at different perspectives to guide diagnosis and optimal treatment choice.
Hepatoblastoma is an exceptionally rare malignancy in adults with just over 70 non-pediatric cases reported in literature. Recounted is a case of a 49-year-old female who presented with acute right upper quadrant abdominal pain, elevated serum alpha fetoprotein and a large liver mass on imaging. Hepatectomy was performed under clinical suspicion of hepatocellular carcinoma. Immunomorphologic characteristics of the tumor proved consistent with hepatoblastoma of mixed epithelial and mesenchymal type. Hepatocellular carcinoma remains to be the primary differential diagnosis for adult hepatoblastoma, however, distinguishing between these two neoplasms requires close histomorphologic assessment and immunohistochemical profiling as clinical, radiologic and gross pathologic findings typically overlap. Making this distinction is highly crucial in the timely initiation of surgical and chemotherapeutic interventions for this inherently aggressive and rapidly fatal disease.
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Hepatoblastoma is the most common pediatric liver malignancy and usually occurs within the first 3 years of life. In recent years, the overall incidence of hepatoblastoma has exhibited the greatest increase among all pediatric malignancies worldwide. The diagnosis of hepatoblastoma may be challenging due to the lack of a current consensus classification system. The International Pediatric Liver Tumors Consensus introduced guidelines and a consensus classification for the diagnosis of hepatoblastoma as either epithelial or mixed epithelial and mesenchymal and in the updated 5th edition of the World Health Organization Classification of Digestive System Tumors.
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Primary signet ring neuroendocrine tumors of the liver are extremely rare tumors. Morphologically, they mimic signet ring cell adenocarcinomas; however, the absence of mucin by special stains and the expression of neuroendocrine markers help to diagnose these tumors. We herein report a case of a 47-year-old female who presented with multiple solid and cystic lesions in both liver lobes, which were initially suggested to be biliary cystadenocarcinoma on imaging. Liver biopsy of the lesion revealed the presence of a signet ring neoplasm with diffuse expression of synaptophysin and pan-cytokeratin. The case was subsequently diagnosed as a primary hepatic signet ring neuroendocrine tumor. The patient was offered 3 cycles of chemotherapy and is well preserved after 14 months of diagnosis. Although this is an extremely rare entity, its possibility should be considered in the differential diagnosis of neoplasms characterized by signet ring cell morphology.
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