Transcript Neoplasia & Hereditary Diseases Lecture Notes Page

Neoplasia
And Inherited and Congenital
Diseases
Abnormalities of Cell
Growth
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Hyperplasia – number
of cells increases
Hypertrophy – size of
cells increases
Metaplasia – size and
numbers stay the same
but the cell morphology
changes (may be a
pre-cancerous sign )
Neoplasia – a new
type of cellular growth
in a tissue, ie tumor
Neoplasia may be:
Benign = relatively harmless unless a
vital area is involved
 Malignant – cancerous ! They grow
and then spread throughout the body
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Benign vs Malignant
Benign
 Well defined; often
encapsulated
 Appear similar to
cell of origin
 Does not spread to
other tissues
 Slow growth
 Usually not fatal
Malignant (Cancer)
 Very invasive with
vague borders
 Dedifferentiated –
appear to be very
immature version of
cell of origin
 Metastasis – spreads
via blood or lymph to
other tissues/organs
 Rapid growth
 High fatality rate
Benign
Malignant
Note: Death is usually due to complications caused by cancer
Neoplasm
Nomenclature
Benign – tissue of origin + suffix –oma
 Benign tumor in glandular tissue =
adenoma
 Benign tumor in bone =
osteoma
 Benign tumor in fatty tissue =
lipoma
Neoplasm
Nomenclature (cont.)
Malignant:
 If tissue of origin is epithelial, than add suffix
–carcinoma
– Malignancy in glandular tissue =
Adenocarcinoma
 If tissue of origin is bone, muscle, cartilage,
or connective tissue, add suffix –sarcoma
– Malignancy in bone =
Osteosarcoma
Nomenclature
Exceptions
Melanoma or Lymphoma –usually
malignant! Need to see adjective in
front of term (benign or malignant)
 Glioma – highly fatal malignancy of
glial cells in the CNS
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Etiology of Malignant
Neoplasia (Cancer)
Neoplasia Treatment
Benign – surgical resection
 Malignant:
Surgery: to remove all of tumor if feasible and
if the tumor has not metastasized
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– Palliative surgery made be done for symptom
relief
Radiation Therapy – kills rapidly dividing cells
– Can be done by penetration or implantation
Neoplasia Treatment
(cont.)
Malignant (cont.):
Chemotherapy (often done in conjunction with
radiation therapy)
 Alkylating agents: inhibit tumor growth by by
reacting with DNA
– Nitrogen mustard, Cytoxan
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Antimetabolites: compete with tumor
metabolites in producing nucleic acid
– Methotrexate
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Plant alkaloids: alter protein synthesis and
nucleic acids
– Vincristine
Chemotherapy has
many side effects!
Some patients find
chemotherapy worse than the
cancer!
Neoplasia Treatment
(cont.)
Malignant:
 Hormone therapy – some hormones
inhibit malignant neoplasia while
others stimulate it
– Hormone therapy may involve removing
stimulating hormones or adding inhibiting
hormones
Diseases Present
at Birth
Chromosomal aberrations
Genetic defects
Congenital defects
Chromosomes
Down’s Syndrome
(Trisomy-21)
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Slanted eyes with
round face
Short, stocky stature
Learning deficiency yet
extremely good
disposition
Sub-par immune
system so tend to be
“sickly”
Usually develop
Alzheimer’s if survive
to age 60
Klinefelter’s Syndrome
(Trisomy-23 = XXY )
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Male genitalia at
birth
Secondary female
traits during puberty
– Gynecomastia
– Pelvic girdle widens
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Some learning
impairment
Usually are sterile
Turner’s Syndrome
(Monosomy-23 = Xo)
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Female genitalia at
birth
Minimal changes at
puberty
– Lack of breast
development
– Pelvis does not widen
– Sterile
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Very bright!
Turner’s responds to
hormone therapy if
diagnosed early
enough!
Autosomal Recessive
Genetic Diseases
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Genes line up in pairs in chromosomes
– Each gene of the pair is referred to as an
allele
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Alleles may be dominant or recessive
– Dominant = always manifests no matter
what other allele it is paired with
– Recessive = has to be paired with
another recessive allele to manifest
Possible Gene Pairings:
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Homozygous Dominant
– Both alleles are the same and dominant
– The dominant trait is expressed
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Homozygous Recessive
– Both alleles are the same and recessive
– The recessive trait is expressed
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Heterozygote
– A dominant allele and a recessive allele are
paired on a chromosome
– The dominant trait is expressed but the
recessive allele is still carried
Most autosomal
recessive diseases
Occur when heterozygotes
(“carriers”) mate
Autosomal Recessive
Diseases
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Cystic Fibrosis
– Recessive gene causes thick exocrine
secretions which impair lung and pancreatic
function
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Sickle Cell Anemia
– Hemolytic anemia caused by fragile and
abnormally shaped RBCs
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Phenylketonuria (PKU)
– Missing enzyme prevents metabolization
phenylalanine
– Causes CNS damage to the newborn
PKU
Sex-Linked
Inheritance
Usually the defective allele is
transmitted from mother to son
on the X of the 23rd
chromosome
Example: Hemophilia
Congenital Defects
Disease/defect present at birth
but NOT due to genetics
Congenital defects are
caused by anything
that interferes with
intrauterine
development
Poor blood flow and oxygen delivery
 Maternal viral infection
 Drugs taken by the mother
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Thalidomide Baby
A child born with a
congenital defect…
Does NOT pass the defect on to
his/her children
An increase in the number of cells of a
particular tissue producing an increase
in the size of that tissue best defines:
A. Metaplasia
B. Hyperplasia
C. Hypertrophy
D. Neoplasia
E. Atrophy
Hemophilia occurs when:
A. Heterozygous parents produce
homozygous offspring
B. A homozygous recessive parent
and a heterozygous parent produce
homozygous recessive male or
female offspring
C. Several homozygous recessive genes
occur in the offspring
D. A heterozygous mother passes on the
recessive trait via an X chromosome to a
male offspring
E. An abnormal division of chromosomes
produces a male with XXY chromosome
How does chronic
inflammation differ
from acute?
A.
B.
C.
D.
E.
I and IV
II and III
I, III, and IV
II, III, and IV
I, II, III, and IV
I.
II.
III.
IV.
Fibrous tissue is
present along
with the exudate
Eosinophils are
present instead
of neutrophils
Primary cells
present are
monocytes
Less exudate is
present
What is the expected action of
corticosteroids when they are used to
treat inflammation?
A. Reduce edema caused by exudation
B. Block histamine release
C. Relieve pain
D. Promote blood clotting at the injury
E. Vasoconstriction to prevent bleeding
Which of the following
are malignant?
A.
B.
C.
D.
E.
V only
II and III
I, IV, and V
II, III, and IV
I, III, IV, and V
I.
II.
III.
IV.
V.
Myosarcoma
Chondroma
Glioma
Osteosarcoma
Bronchogenic
carcinoma
What abnormality occurs to cause Down’s
Syndrome?
A.
A male receives a recessive gene on the X
chromosome
B.
The cell fails to divide properly producing
an extra chromosome on an autosomal
pair
C.
The cell fails to divide properly producing
an extra X chromosome
D.
The offspring receives two recessive
genes from the parents
E.
Damage to the embryo occurs during
intra-uterine development
Treatment that is palliative :
A. Cures the disease
B. Treats the symptoms and makes the
patient comfortable
C. Prevents disease
D. Prevents complications and helps to
cure the disease
E. Uses drastic measures as a last
resort in an attempt to cure a disease
Metastasis, the formation of secondary
tumors in organs other than that in
which the tumor originated, is a
characteristic of:
A. Metaplasia
B. Benign neoplasia
C. Hyperplasia
D. Malignant neoplasia
E. Anaplasia
When a person is stung by a bee, and
there is a reaction where blood
vessels dilate, blood pressure falls,
and there is decreased blood flow to
vital organs, what type of allergic
reaction has occurred?
A. Anaphylactic
B. Delayed
C. Cytotoxic
D. Cell – mediated
E. Immune complex hypersensitivity
Following the initial injury that triggers
inflammation, what is the first stage of the
inflammatory response?
A.
An increased number of monocytes and
lymphocytes are produced and mobilized
to the site of injury
B.
Blood vessels in the area dilate to
increase blood flow and their permeability
increases
C.
Eosinophils converge at the injury site and
release histamine
D.
Fibroblasts appear at the site and start
laying down collagen
E.
Macrophages appear and begin
phagocytosis