Neoplasia

And Inherited and Congenital Diseases

Abnormalities of Cell Growth

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

Benign vs MalignantBenign 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

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– 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

Antimetabolites: compete with tumor metabolites in producing nucleic acid– Methotrexate

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)

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 )

Male genitalia at birth

Secondary female traits during puberty– Gynecomastia– Pelvic girdle widens

Some learning impairment

Usually are sterile

Turner’s Syndrome(Monosomy-23 = Xo)

Female genitalia at birth Minimal changes at

puberty– Lack of breast

development– Pelvis does not widen– Sterile

Very bright! Turner’s responds to

hormone therapy if diagnosed early enough!

Autosomal Recessive Genetic Diseases

Genes line up in pairs in chromosomes– Each gene of the pair is referred to as an

allele 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: Homozygous Dominant

– Both alleles are the same and dominant– The dominant trait is expressed

Homozygous Recessive– Both alleles are the same and recessive– The recessive trait is expressed

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

Cystic Fibrosis– Recessive gene causes thick exocrine secretions

which impair lung and pancreatic function Sickle Cell Anemia

– Hemolytic anemia caused by fragile and abnormally shaped RBCs

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

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 offspringB. A homozygous recessive parent and a heterozygous parent produce homozygous recessive male or female offspringC. Several homozygous recessive genes occur in the offspringD. A heterozygous mother passes on the recessive trait via an X chromosome to a male offspringE. An abnormal division of chromosomes produces a male with XXY chromosome

How does chronic inflammation differ from

acute?A. I and IV

B. II and III

C. I, III, and IV

D. II, III, and IV

E. I, II, III, and IV

I. Fibrous tissue is present along with the exudate

II. Eosinophils are present instead of neutrophils

III. Primary cells present are monocytes

IV. Less exudate is present

What is the expected action of corticosteroids when they are used to treat inflammation?

A. Reduce edema caused by exudationB. Block histamine releaseC. Relieve painD. Promote blood clotting at the injuryE. Vasoconstriction to prevent bleeding

Which of the following are malignant?

A. V only

B. II and III

C. I, IV, and V

D. II, III, and IV

E. I, III, IV, and V

I. Myosarcoma

II. Chondroma

III. Glioma

IV. Osteosarcoma

V. 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. AnaphylacticB. DelayedC. Cytotoxic D. Cell – mediatedE. 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