Retinoblastoma causes: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
Line 5: Line 5:
Retinoblastoma is caused by a [[mutation]] in the ''RB1'' gene.<ref name="wiki">  Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>  
Retinoblastoma is caused by a [[mutation]] in the ''RB1'' gene.<ref name="wiki">  Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>  
==Causes==
==Causes==
*In children with the heritable genetic form of retinoblastoma there is a [[mutation]] on [[chromosome 13]], called the ''[[RB1]]'' [[gene]]. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.<ref name="DuPogoriler2006">{{cite journal|last1=Du|first1=W|last2=Pogoriler|first2=J|title=Retinoblastoma family genes|journal=Oncogene|volume=25|issue=38|year=2006|pages=5190–5200|issn=0950-9232|doi=10.1038/sj.onc.1209651}}</ref> If a portion of the code is missing or altered (mutation) a cancer may develop. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is [[autosomal dominant]] with 90% penetrance.<ref name="wiki">  Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>  
*In children with the heritable genetic form of retinoblastoma there is a [[mutation]] on [[chromosome 13]], called the ''[[RB1]]'' [[gene]]. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.<ref name="DuPogoriler2006">{{cite journal|last1=Du|first1=W|last2=Pogoriler|first2=J|title=Retinoblastoma family genes|journal=Oncogene|volume=25|issue=38|year=2006|pages=5190–5200|issn=0950-9232|doi=10.1038/sj.onc.1209651}}</ref> If a portion of the code is missing or altered (mutation) a cancer may develop. The defective [[RB1 gene]] can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is [[autosomal dominant]] with 90% penetrance.<ref name="wiki">  Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015</ref>  
*The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the [[retinal]] [[cell]] or cells to develop into [[tumors]]. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele ([[gene]]) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma.
*The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the [[retinal]] [[cell]] or cells to develop into [[tumors]]. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele ([[gene]]) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma.



Revision as of 15:29, 16 October 2015

Retinoblastoma Microchapters

Home

Patient Information

Overview

Historical perspective

Classification

Pathophysiology

Causes

Differentiating Retinoblastoma from other Diseases

Epidemiology & Demographics

Risk Factors

Screening

Natural history, Complications, and Prognosis

Diagnosis

Diagnostic Study of Choice

History & Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X-ray

Echocardiography and Ultrasound

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Retinoblastoma causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Retinoblastoma causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Retinoblastoma causes

CDC on Retinoblastoma causes

Retinoblastoma causes in the news

Blogs on Retinoblastoma causes

Directions to Hospitals Treating Retinoblastoma

Risk calculators and risk factors for Retinoblastoma causes

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Simrat Sarai, M.D. [2]

Overview

Retinoblastoma is caused by a mutation in the RB1 gene.[1]

Causes

  • In children with the heritable genetic form of retinoblastoma there is a mutation on chromosome 13, called the RB1 gene. The genetic codes found in chromosomes control the way in which cells grow and develop within the body.[2] If a portion of the code is missing or altered (mutation) a cancer may develop. The defective RB1 gene can be inherited from either parent; in some children, however, the mutation occurs in the early stages of fetal development. Inheritance is autosomal dominant with 90% penetrance.[1]
  • The development of retinoblastoma can be explained by the two-hit model. According to the two-hit model, two events are necessary for the retinal cell or cells to develop into tumors. The first mutational event can be inherited (germline or constitutional) and would then be present in all cells in the body. The second “hit” results in the loss of the remaining normal allele (gene) and occurs within a particular retinal cell. In the sporadic, nonheritable form of retinoblastoma, both mutational events occur within a single retinal cell after fertilization (somatic events), resulting in unilateral retinoblastoma.
  • Somatic amplification of the MYCN oncogene is responsible for some cases of non-hereditary, early-onset, aggressive, unilateral retinoblastoma.

References

  1. 1.0 1.1 Retinoblastoma. Wikipedia(2015) https://en.wikipedia.org/wiki/Retinoblastoma Accessed on October 10 2015
  2. Du, W; Pogoriler, J (2006). "Retinoblastoma family genes". Oncogene. 25 (38): 5190–5200. doi:10.1038/sj.onc.1209651. ISSN 0950-9232.

Template:WikiDoc Sources