Hepatocellular carcinoma in identical twins in Chile: case report

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Abstract

Liver cancer is the second leading cause of cancer death worldwide, with hepatocellular carcinoma (HCC) being the most common type of primary malignant liver tumour, with a typically poor prognosis, growing incidence and a well-documented relationship with chronic inflammation factors of the liver tissue. Despite the fact that family medical history has been identified as a risk factor for the development of HCC, its significance in terms of etiopathogenesis and prognosis is not well documented. With a view to contributing to this discussion, we will report the clinical case of two identical twins with HCC, both diagnosed within a short period of time, by providing relevant clinical data, and relating this to other medical literature reports that could contribute to a deeper understanding of this illness.

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What makes a good genetic association study?

Andrew T Hattersley, Mark I McCarthy (2005)

Genetic association studies are central to efforts to identify and characterise genomic variants underlying susceptibility to multifactorial disease. However, obtaining robust replication of initial association findings has proved difficult. Much of this inconsistency can be attributed to inadequacies in study design, implementation, and interpretation--inadequately powered sample groups are a major concern. Several additional factors affect the quality of any given association study, with appropriate sample-recruitment strategy, logical variant selection, minimum genotyping error, relevant data analysis, and valid interpretation all essential to generation of robust findings. Replication has a vital role in showing that associations that are identified reflect interesting biological processes rather than methodological quirks. For an unbiased view of the evidence for and against any particular association, study quality, rather than significance value, needs to play the dominant part.

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Synergistic effects of family history of hepatocellular carcinoma and hepatitis B virus infection on risk for incident hepatocellular carcinoma.

Nan Lu, Hwai-I Yang, San-Lin You … (2013)

Little is known about the effects of family history of hepatocellular carcinoma (HCC) on hepatitis B progression or risk of HCC. We examined how family HCC history and presence or stage of hepatitis B virus (HBV) infection affect risk for HCC. We performed a population-based cohort study of 22,472 participants from 7 townships in Taiwan who underwent evaluation for liver disease from 1991 through 1992. Those who received a first diagnosis of HCC from January 1, 1991, to December 31, 2008, were identified from the Taiwanese cancer registry. There were 374 cases of incident HCC over 362,268 person-years of follow-up evaluation. The cumulative risk of HCC in hepatitis B surface antigen (HBsAg)-seronegative patients without a family history of HCC was 0.62%, in those with a family history of HCC the cumulative risk was 0.65%, in HBsAg-seropositive patients without a family history of HCC the cumulative risk was 7.5%, and in HBsAg-seropositive patients with a family history of HCC the cumulative risk was 15.8% (P < .001). The multivariate-adjusted hazard ratio for HBsAg-seropositive individuals with family history, compared with HBsAg-seronegative individuals without a family history of HCC, was 32.33 (95% confidence interval, 20.8-50.3; P < .001). The relative excess risk owing to interaction was 19, the attributable proportion was 0.59, and the synergy index value was 2.54. These findings indicate synergy between family HCC history and HBsAg serostatus. The synergy between these factors remained significant in stratification analyses by HBeAg serostatus and serum level of HBV DNA. Family history of HCC multiplies the risk of HCC at each stage of HBV infection. Patients with a family history of HCC require more intensive management of HBV infection and surveillance for liver cancer. Copyright © 2013 AGA Institute. Published by Elsevier Inc. All rights reserved.

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Genetics of hepatocellular carcinoma.

Frank Staib, Peter Galle, Stephan Kanzler … (2007)

The completely assembled human genome has made it possible for modern medicine to step into an era rich in genetic information and high-throughput genomic analysis. These novel and readily available genetic resources and analytical tools may be the key to unravel the molecular basis of hepatocellular carcinoma (HCC). Moreover, since an efficient treatment for this disease is lacking, further understanding of the genetic background of HCC will be crucial in order to develop new therapies aimed at selected targets. We report on the current status and recent developments in HCC genetics. Special emphasis is given to the genetics and regulation of major signalling pathways involved in HCC such as p53, Wnt-signalling, TGFbeta, Ras, and Rb pathways. Furthermore, we describe the influence of chromosomal aberrations as well as of DNA methylation. Finally, we report on the rapidly developing field of genomic expression profiling in HCC, mainly by microarray analysis.

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Author and article information

Journal

Journal ID (nlm-ta): Ecancermedicalscience

Journal ID (iso-abbrev): Ecancermedicalscience

Journal ID (publisher-id): ecancermedicalscience

Title: ecancermedicalscience

Publisher: Cancer Intelligence

ISSN (Electronic): 1754-6605

Publication date Collection: 2016

Publication date (Electronic): 21 December 2016

Volume: 10

Electronic Location Identifier: 708

Affiliations

[1 ]Unit of Investigational Cancer Drugs, Instituto Oncologico Fundación Arturo López Pérez, Santiago, Chile

[2 ]Radiation Oncology, University of Valparaíso, Valparaíso, Chile

[3 ]Anatomical Pathology, Pontificia Universidad Católica de Chile, Santiago, Chile

[4 ]Early Drug Development Unit—Phase 1 Studies, University Hospital of Antwerp, Antwerp, Belgium

[5 ]Oncólogo Médico Clínica Las Condes, Santiago, Chile

[6 ]Radiation Oncology, Clínica Alemana, Temuco, Chile

[7 ]Instituto Oncològico Fundación Arturo López Pérez, Rancagua 878, Providencia Santiago, Chile

Author notes

Correspondence to: Christian Caglevic. E-mail: oncodemia@ 123456yahoo.com and caglevicc@ 123456falp.org

Article

Publisher ID: can-10-708

DOI: 10.3332/ecancer.2016.708

PMC ID: 5221639

SO-VID: f5132904-be35-442d-b140-baa40377a010

License:

This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

History

Date received : 06 June 2016

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Hepatocellular carcinoma in identical twins in Chile: case report

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Karger: Oncology

Most cited references 19

What makes a good genetic association study?

Synergistic effects of family history of hepatocellular carcinoma and hepatitis B virus infection on risk for incident hepatocellular carcinoma.

Genetics of hepatocellular carcinoma.

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