Pediatric combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features: distinguishing genetic alterations detected by chromosomal microarray

Diagnostic Pathology

Case Report

Sarangarajan Ranganathan¹  Dongfeng Tan²  Eric C. Fitz³  Jianli Dong³  Heather L. Stevenson³  Arwyn G. Cunningham³  Alyeesha B. Wilhelm³  Cynthia Kassab⁴  Ravi S. Radhakrishnan⁴ 

[1] Department of Pathology, Cincinnati Children’s Hospital, Cincinnati, OH, USA;Department of Pathology, M.D. Anderson Cancer Center, Houston, TX, USA;Department of Pathology, The University of Texas Medical Branch, Galveston, TX, USA;Department of Surgery, The University of Texas Medical Branch, Galveston, TX, USA;

关键词: cHCC-CC;    Cholangiocarcinoma;    Hepatoblastoma;    Hepatocellular Carcinoma;    Liver;    Neuroendocrine;    Pediatric;   

DOI  :  10.1186/s13000-023-01305-z

 received in 2022-07-27, accepted in 2023-01-26,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundLiver tumors exhibiting hepatocellular, cholangiocarcinoma, and neuroendocrine features are extremely rare, with only five cases reported in the literature.Case presentationWe present an unusual case of a combined hepatocellular-cholangiocarcinoma (cHCC-CC) with neuroendocrine features in a pediatric patient. A 16-year-old presented with abdominal pain and a 21.0 cm mass in the right hepatic lobe with extension into the left lobe. Histology showed a poorly differentiated tumor with a solid, tubuloglandular, and microcystic architecture. Immunohistochemistry results were negative for hepatic markers, positive for markers of biliary differentiation, and positive for neuroendocrine differentiation. The neoplasm was reviewed at several institutions with differing diagnoses. Single nucleotide polymorphism (SNP) chromosomal microarray (CMA) showed large deletions within chromosomes 6q and 13q in both the hepatocellular-like areas and the cholangiocarcinoma-like areas, with additional large deletions in the cholangiocarcinoma-like areas, supporting origin from hepatocellular carcinoma. The final diagnosis was a cHCC-CC with neuroendocrine features.ConclusionsDiagnosis of cHCC-CCs relies predominately on histomorphology, as per the 2018 International Consensus Group on the nomenclature of cHCC-CC. These findings in this case support that the pathological classification of these lesions be based on molecular data, which could better direct treatment. Further classification of cHCC-CCs and determination of their clinicopathological relevance will require more interobserver consistency and continued molecular profiling of these lesions.

【 授权许可】

CC BY   
© The Author(s) 2023

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