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Molecular profiling identifies new high-risk subtype of paediatric liver cancer

27 May 2022
Molecular profiling identifies new high-risk subtype of paediatric liver cancer

Until recently, nearly all paediatric liver cancers were classified as either hepatoblastoma or hepatocellular carcinoma.

However, paediatric pathologists observed that some liver tumours have histological features that do not easily fit neither of these two carcinoma models.

These cancers are less likely to respond to chemotherapy and patient outcomes are poor.

First author Dr. Pavel Sumazin, associate professor of pediatrics at Baylor College of Medicine and Texas Children’s Cancer and Hematology Center, and his colleagues looked to better characterise this high-risk cancer.

The researchers examined the molecular profiles of the tumours, including genetic alterations and gene expression profiles.

They found that these profiles do not fit into the hepatoblastoma (HB) or hepatocellular carcinoma (HCC) molecular categories.

Instead, these tumours exhibited recurring molecular features that have been observed in both HBs and HCCs.

They designated these tumours as hepatoblastomas with hepatocellular carcinoma features (HBCs).


The team also examined HBC treatments and outcomes and found that they tended to be more resistant to standard chemotherapy and have poor outcomes when not treated with more aggressive surgical approaches, including transplantation.

Based on their findings, the team proposed a diagnostic algorithm to stratify HBCs and guide specialised treatment.

“Our findings highlight the importance of molecular testing to accurately classify these tumours to optimise treatment recommendations at the time of initial diagnosis,” said Dr. Dolores López-Terrada, corresponding author of the paper, professor of pathology, immunology and pediatrics at Baylor and chief of the division of genomic medicine at Texas Children’s.

“Our analysis suggested that children with HBCs may benefit from treatment strategies that differ from the guidelines for patients with hepatoblastoma and hepatocellular carcinoma.”

Source: Baylor College of Medicine