Genomic and transcriptomic profiling of hepatocellular carcinoma reveals a rare molecular subtype
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Published:2024-01-16
Issue:1
Volume:15
Page:
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ISSN:2730-6011
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Container-title:Discover Oncology
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language:en
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Short-container-title:Discov Onc
Author:
Zhu MengtingORCID, Rovella ValentinaORCID, Scimeca ManuelORCID, Mauriello AlessandroORCID, Shi YufangORCID, Bischof JuliaORCID, Woodsmith JonathanORCID, Anselmo AlessandroORCID, Melino GerryORCID, Tisone GiuseppeORCID, Agostini MassimilianoORCID
Abstract
AbstractHepatocellular carcinoma (HCC) is the third leading cause of cancer-related death worldwide, occurring predominantly in patients with underlying chronic liver disease and cirrhosis. Here, we describe a case of a 62-year-old man that was admitted to our hospital and diagnosed with HCC where the cancer has already metastasized to the retroperitoneum and peritoneum. In order to better characterize the HCC, both the cancerous liver tissue and the adjacent normal liver tissue of the patient were collected and subjected to a genomic, transcriptomic and proteomic analysis. Our patient carries a highly mutated HCC, which is characterized by both somatic mutation in the following genes ALK, CDK6, TP53, PGR. In addition, we observe several molecular alterations that are associated with potential therapy resistance, for example the expression of the organic-anion-transporting polypeptide (OATP) family members B1 and B3, that mediate the transport of the anticancer drugs, has been found decreased. Overall, our molecular profiling potentially classify the patient with poor prognosis and possibly displaying resistance to pharmacological therapy.
Funder
Ministero dell'Università e della Ricerca Associazione Italiana per la Ricerca contro il Cancro Regione Lazio
Publisher
Springer Science and Business Media LLC
Subject
Cancer Research,Endocrine and Autonomic Systems,Endocrinology,Oncology,Endocrinology, Diabetes and Metabolism
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