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Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma

Nature Reviews Cancer volume 23, pages 335–346 (2023)Cite this article

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An Author Correction to this article was published on 20 April 2023

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Abstract

The fight against rare cancers faces myriad challenges, including missed or wrong diagnoses, lack of information and diagnostic tools, too few samples and too little funding. Yet many advances in cancer biology, such as the realization that there are tumour suppressor genes, have come from studying well-defined, albeit rare, cancers. Fibrolamellar hepatocellular carcinoma (FLC), a typically lethal liver cancer, mainly affects adolescents and young adults. FLC is both rare, 1 in 5 million, and problematic to diagnose. From the paucity of data, it was not known whether FLC was one cancer or a collection with similar phenotypes, or whether it was genetically inherited or the result of a somatic mutation. A personal journey through a decade of work reveals answers to these questions and a road map of steps and missteps in our fight against a rare cancer.

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Fig. 1: Mapping reads from the transcriptome onto the genome reveals the fusion transcript.

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Acknowledgements

The author thanks the fibrolamellar community for their commitment to defeat this beast. The author also thanks all members of the laboratory who have been working together as an incredible team, backing each other up on every step. Additionally, the author thanks colleagues around the world who have so generously given their time and thoughts.

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  1. Rockefeller University, New York, NY, USA

    Sanford M. Simon

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Simon, S.M. Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma. Nat Rev Cancer 23, 335–346 (2023). https://doi.org/10.1038/s41568-023-00554-w

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