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Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma

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...

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Detalles Bibliográficos
Autor principal: Simon, Sanford M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022574/
https://www.ncbi.nlm.nih.gov/pubmed/36932129
http://dx.doi.org/10.1038/s41568-023-00554-w
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author Simon, Sanford M.
author_facet Simon, Sanford M.
author_sort Simon, Sanford M.
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description 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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spelling pubmed-100225742023-03-17 Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma Simon, Sanford M. Nat Rev Cancer Perspective 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. Nature Publishing Group UK 2023-03-17 2023 /pmc/articles/PMC10022574/ /pubmed/36932129 http://dx.doi.org/10.1038/s41568-023-00554-w Text en © Springer Nature Limited 2023, corrected publication 2023Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law. This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Perspective
Simon, Sanford M.
Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title_full Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title_fullStr Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title_full_unstemmed Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title_short Fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
title_sort fighting rare cancers: lessons from fibrolamellar hepatocellular carcinoma
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10022574/
https://www.ncbi.nlm.nih.gov/pubmed/36932129
http://dx.doi.org/10.1038/s41568-023-00554-w
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