Logo MSM

Call: +1.631.470.9640
Mon - Fri 10:00 am - 02:00 pm EST

Contact Us

Logo MSM Logo MSM Logo MSM

01 December 2008

The retinoblastoma paradigm revisited

Domenico Mastrangelo, Sonia De Francesco, Aldo Di Leonardo, Laura Lentini, Theodora Hadjistilianou

Med Sci Monit 2008; 14(12): RA231-240 :: ID: 869470

Abstract

Background
Retinoblastoma (Rb) is the most common primary malignant intraocular tumour in childhood. The "two hit" theory, formulated by Knudson in 1971 to explain the variegated clinical expression of the disease, led to the discovery of the so called tumour suppressor genes and the identification of the Rb1 as the prototype of such genes. Mutations of the Rb1 gene are now commonly believed to be the "cause" retinoblastoma, although epidemiological, clinical, and biological evidences argue against it.
Material and Method
The Authors have performed a systematic review of available data concerning clinical and diagnostic aspects of retinoblastoma, including molecular genetics. Meta analysis of literature data has been performed in order to validate some of the predictions made by the two hit theory.
Results
The following theses are discussed in detail: 1) there is no difference in the age at diagnosis between unilateral and bilateral retinoblastoma; 2) the pathogenetic mechanisms underlying familial, hereditary, and sporadic retinoblastoma are different; 3) bilateral retinoblastoma is not necessarily hereditary; 4) The real incidence of the unilateral phenotype within the familial group is disproportionately higher than that predicted by the "two hit"; 5) retinoblastoma is most probably "caused" by the combination of epigenetic factors and aneuploidy.
Conclusions
Epidemiological, clinical, and more recent biological and genetic evidences, show that the "two hit" theory represents a rather simplistic, outdated, and unreliable model to explain tumour development and clinical evolution of retinoblastoma.

Keywords: Retinoblastoma - pathology, Mutation, Age Factors

0 Comments

This Week Editorial

13 September 2021 : Editorial

Editorial: The First Monoclonal Antibody Vaccine to Prevent Malaria Heralds a New Era of Malaria Vaccines to the Plasmodium falciparum Circumsporozoite Protein (PfCSP)

Dinah V. Parums
Science Editor, Medical Science Monitor, International Scientific Information, Inc., Melville, NY, USA

DOI: 10.12659/MSM.934676

Med Sci Monit 2021; 27:e934676

Coronavirus/Covid 19

15 September 2021 : Editorial

Editorial: Autoantibodies to Components of the Immune System, Including Type 1 Interferons, and the Risk of...

Med Sci Monit In Press; DOI: 10.12659/MSM.934766  

08 September 2021 : Clinical Research

Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...

Med Sci Monit In Press; DOI: 10.12659/MSM.932788  

16 July 2021 : Review article

Silent Hypoxemia in Patients with COVID-19 Pneumonia: A Review

Med Sci Monit In Press; DOI: 10.12659/MSM.930776  

09 July 2021 : Database Analysis

A Simple Clinical Prediction Tool for COVID-19 in Primary Care with Epidemiology: Temperature-Leukocytes-CT...

Med Sci Monit In Press; DOI: 10.12659/MSM.931467  

In Press

15 Sep 2021 : Clinical Research

Polish Medical Air Rescue Interventions Concerning Pregnant Women in Poland: A 10-year Retrospective Analysis

Med Sci Monit In Press; DOI: 10.12659/MSM.933029  

15 Sep 2021 : Editorial

Editorial: Autoantibodies to Components of the Immune System, Including Type 1 Interferons, and the Risk of...

Med Sci Monit In Press; DOI: 10.12659/MSM.934766  

15 Sep 2021 : Clinical Research

A Prospective Single-Center Study of the Effects of Repetitive Transcranial Magnetic Stimulation at 2-Week ...

Med Sci Monit In Press; DOI: 10.12659/MSM.933017  

15 Sep 2021 : Clinical Research

Computed Tomography-Guided Radiofrequency Ablation of the Cervical Dorsal Root Ganglia in 27 Patients with ...

Med Sci Monit In Press; DOI: 10.12659/MSM.932612  

Most Viewed

20 Mar 2020 : Clinical Research

Social Capital and Sleep Quality in Individuals Who Self-Isolated for 14 Days During the Coronavirus Diseas...

DOI :10.12659/MSM.923921

Med Sci Monit 2020; 26:e923921

15 Apr 2020 : Clinical Research

Psychological Impact and Coping Strategies of Frontline Medical Staff in Hunan Between January and March 20...

DOI :10.12659/MSM.924171

Med Sci Monit 2020; 26:e924171

05 May 2020 : Review article

An Evidence Based Perspective on mRNA-SARS-CoV-2 Vaccine Development

DOI :10.12659/MSM.924700

Med Sci Monit 2020; 26:e924700

26 Apr 2020 : Clinical Research

Comparison of Prevalence and Associated Factors of Anxiety and Depression Among People Affected by versus P...

DOI :10.12659/MSM.924609

Med Sci Monit 2020; 26:e924609

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750