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4 - Pathophysiology

There are two types of retinoblastoma: hereditary and sporadic. Hereditary retinoblastoma is caused by inheriting a nonfunctional RB gene from a parent, leading to mutations in both copies of the RB gene in retinal cells and uncontrolled cell proliferation. Sporadic retinoblastoma occurs through two random mutations in the same retinal cell inactivating both copies of the RB gene. This prevents cells from producing the functional pRB protein and deregulates cell proliferation. Unilateral retinoblastoma affects one eye, while bilateral retinoblastoma affects both eyes. If left untreated, abnormal retinal cells can metastasize to other organs and be life-threatening. Treatment options include chemotherapy, enucle

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April Girao
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150 views

4 - Pathophysiology

There are two types of retinoblastoma: hereditary and sporadic. Hereditary retinoblastoma is caused by inheriting a nonfunctional RB gene from a parent, leading to mutations in both copies of the RB gene in retinal cells and uncontrolled cell proliferation. Sporadic retinoblastoma occurs through two random mutations in the same retinal cell inactivating both copies of the RB gene. This prevents cells from producing the functional pRB protein and deregulates cell proliferation. Unilateral retinoblastoma affects one eye, while bilateral retinoblastoma affects both eyes. If left untreated, abnormal retinal cells can metastasize to other organs and be life-threatening. Treatment options include chemotherapy, enucle

Uploaded by

April Girao
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as DOCX, PDF, TXT or read online on Scribd
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VI.

PATHOPHYSIOLOGY

Precipitating Factors
Random somatic
mutation

Predisposing Factors
Age
Sex
Family history

Precipitating Factors
Random somatic
mutation

Predisposing Factors
Age
Sex

HEREDITARY

SPORADIC

Infant inherits
nonfunctional RB gene
from parent

Two normal RB genes


in the cells

Mutation in all genes of


the body

Retinal function
controlled by paired RB
gene

A single RB gene
controls the
proliferation of cells

Random mutation in
same retinal cell RB
gene

Loss of normal gene


function

Cell function controlled


by remaining functional
gene.

Ineffective stimulation
of E2F

Inappropriate
transcription of cell
cycle genes

2nd random mutation in


the same retinal cell
inactivates remaining
functional RB gene

Abolished RB gene
Ineffective stimulation
of E2F

Dysfunction of the antagonistic


homeostatic regulatory
mechanism of cell proliferation

Increased cell
proliferation

Genetic changes prevent cells from


producing functional pRB

Deregulated retinal cells


proliferates to form clones of
identical abnormal cells

Abnormal cells grow and divide


without control

Development of cancerous
tumor in one eye

UNILATERAL
RETINOBLASTOMA

If treated:
Method of treatment:

If not treated:

Chemotherapy
Enucleation
Exenteration

Dysfunctional retinal
cells continue to
metastasize

Control of the metastasis


of the abnormal cells

BILATERAL
RETINOBLASTOMA

If treated:
Method of treatment:

If not treated, cells


continue to metastasize to
other organs and systems

Chemotherapy
Enucleation
Exenteration

Pinealoma
Osteosarcoma
Melanoma

Control of the metastasis


of the abnormal cells

If treated:
Method of treatment:
Chemotherapy

Control of the metastasis


of the abnormal cells

If not treated, may


lead to death

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