NURSING 324 Pathophysiology: Cellular Pathology, Cancer, and Genetic Diseases

Flashcards created from lecture notes covering cellular pathology, cancer types, TNM staging, leukemia, lymphoma, multiple myeloma, and inherited/chromosomal genetic disorders.

What is the difference between hypoxia and ischemia?

Hypoxia refers to decreased oxygen supply, whereas ischemia refers to decreased blood flow.

How do cells die in apoptosis compared to necrosis?

In apoptosis, cells implode, and cellular debris is cleared by phagocytes as a normal programmed suicide without causing inflammation. In necrosis, cells swell and explode (cellular murder) due to external mechanisms, releasing poisons and triggering inflammation and tissue death.

What is gangrene?

A condition involving the death and decay of tissue (usually in extremities like the lower leg) due to a loss of blood supply.

What is the distinction between cellular hypertrophy and cellular hyperplasia?

Hypertrophy is an increase in individual cell size due to higher workload, while hyperplasia is an overgrowth or increase in the total number of cells.

What is metaplasia and what is a common example of it?

Metaplasia is a change from a normal cell type to a different cell type; an example is lung ciliated pseudostratified epithelium changing to squamous epithelium in smokers.

How does dysplasia differ from neoplasia?

Dysplasia is a pre-cancerous, disordered growth state (such as cervical dysplasia) that is still reversible at low grades. Neoplasia refers to irreversible new growth forming an abnormal tissue mass (tumor).

What are the characteristics that distinguish benign tumors from cancerous (malignant) tumors?

Benign tumors do not invade nearby tissues or metastasize and usually do not grow back when intactly removed. Malignant tumors invade nearby tissues, can metastasize via blood or lymphatics to secondary sites, and tend to recur.

What are the four basic types of cancer defined by cellular origin?

Carcinomas (skin/mucus membranes), Sarcomas (structure/connective tissues like bone and muscle), Leukemias (blood cells), and Lymphomas (lymphatic system).

What is an adenocarcinoma?

A type of carcinoma that originates in mucous-producing glandular cells, which can be found in organs like the breast, lung, colon, pancreas, and liver.

What are the 5-year survival rates for non-small cell lung cancer (NSCLC) versus small cell lung cancer?

The 5-year survival rate for NSCLC is $24\%$, compared to $6\%$ for small cell lung cancer (and $19\%$ overall for all lung cancers).

What are two distinct types of sarcoma discussed in the lecture?

Osteosarcoma (most common bone cancer) and Ewing's Sarcoma (affects teenagers and young adults, commonly in the pelvis and leg bones).

What is cachexia in the context of clinical cancer signs?

Cachexia is unexplained, severe weight loss.

What do the letters T, N, and M represent in TNM cancer staging?

T represents Tumor location and primary invasion status; N represents regional Lymph Node involvement; M represents distant Metastases.

How is Stage 3 cancer classified in tumor site staging?

Stage 3 cancer has spread to regional structures such as lymph nodes.

Which tumor cell markers are associated with CA 125 and PSA?

CA 125 is elevated in ovarian, colon, gastric, and pancreatic cancers. PSA (Prostate Specific Antigen) is associated with prostate cancer, multiple myeloma, and lung cancer.

Where are cancer cells primarily located in leukemia versus lymphoma?

In leukemia, cancer cells are located mainly in the bone marrow and bloodstream. In lymphoma, cancerous white blood cells are found in lymph nodes, the lymphatic system, and other immune tissues like the spleen.

What is the normal reference range for a white blood cell (WBC) count?

$4,000$ to $10,000$ per microliter ($4,000-10,000\,\mu L^{-1}$).

What is tumor lysis syndrome (TLS) and why is it dangerous?

TLS occurs during cancer treatment when chemotherapy or radiation destroys high numbers of cancer cells rapidly, releasing cell breakdown products that can lead to acute kidney injury, fatal arrhythmia, and death.

How do checkpoint inhibitors work in cancer immunotherapy?

Checkpoint inhibitors (often monoclonal antibodies) block proteins that cancer cells use to trick T cells into standing down, thereby releasing the brakes on the immune system to attack tumors.

What diagnostic hallmark cell is present in Hodgkin's disease?

The Reed-Sternberg cell in lymphatic tissue.

What are the 1-year, 5-year, and 10-year survival rates for Hodgkin's lymphoma?

Greater than $90\%$ survive $1\text{ year}$, $85\%$ survive $5\text{ years}$, and $75\%$ survive $10\text{ years}$ or more.

How does Non-Hodgkin's Lymphoma (NHL) differ from Hodgkin's Disease?

Non-Hodgkin's Lymphoma lacks Reed-Sternberg cells, is more common in older adults and men, is $90\%$ B-cell origin, and generally has lower survival rates.

What is Multiple Myeloma?

A malignant neoplasm of plasma cells (B-lymphocytes) inside the bone marrow that abnormally multiply, overproduce monoclonal antibodies, and cause bone destruction.

What does the clinical acronym CRAB stand for in Multiple Myeloma?

HyperCalcemia, Renal dysfunction, Anemia, and Bone Pain.

What urine testing finding helps confirm a diagnosis of Multiple Myeloma?

Presence of Bence Jones proteins (antibody light chains) found during a 24-hour urine protein electrophoresis.

Which human blood cells contain no nucleus and therefore no chromosomes?

Red blood cells.

What is the key difference between a genetic disease and a congenital disease?

A genetic disease is inherited from one or both parents via gene code. A congenital disease is present at birth due to intrauterine environmental disruption, even if inherited genetics are normal.

What is the genetic defect and underlying mechanism in Cystic Fibrosis (CF)?

An autosomal recessive mutation on chromosome 7 alters chloride processing, leading to reduced chloride secretion, excessive sodium/water resorption, and thick, viscous mucus that obstructs the respiratory, digestive, and glandular organs.

What is the metabolic defect in Phenylketonuria (PKU)?

An autosomal recessive inborn error of metabolism where the body lacks the ability to metabolize phenylalanine into tyrosine.

What foods must individuals with PKU avoid?

High-protein foods (milk, eggs, cheese, nuts, meats, beans, tofu, soy), certain grains/vegetables, regular baby formula, and artificial sweeteners containing aspartame (Equal).

What is Galactosemia?

An autosomal recessive inborn error of metabolism preventing the conversion of galactose (a lactose sugar) into glucose, causing toxic accumulation that damages the liver, brain, kidneys, and eyes.

What enzyme is absent in Tay-Sachs disease and what is the typical outcome?

The HexA brain enzyme is missing, leading to fatty acid accumulation in the central nervous system, seizures, paralysis, and death typically by $3$ to $5$ years of age.

What chance does a parent with an autosomal dominant disorder have of passing the condition to each offspring?

A $50\%$ chance with each pregnancy.

What single-gene mutation causes Marfan's Syndrome?

A mutation on Chromosome 15 affecting proper elastin and collagen protein synthesis, leading to eye, skeletal, and cardiovascular abnormalities (such as aortic aneurysm/dissection).

What genetic mutation causes Huntington's disease (HD)?

Cytosine, adenine, and guanine (CAG) repeats in the Huntingtin (HTT) gene, leading to progressive neurodegeneration.

Why do males manifest X-linked recessive disorders while females are typically carriers?

Males have only one X chromosome (XY) inherited from their mother, so a single mutated gene expresses the disorder; females (XX) have a second normal X chromosome that compensates.

What genetic abnormality causes Fragile X Syndrome?

Multiple repeats (around $200$ times) in the FMR1 gene on the X chromosome, which silences the gene and halts the production of proteins essential for brain development.

What is Duchenne Muscular Dystrophy (DMD) and what is the cost of its FDA-approved gene therapy Elevidys?

DMD is a severe X-linked recessive neuromuscular disease caused by a mutation of the dystrophin gene on chromosome Xp21; Elevidys costs $3.2\text{ million dollars}$ for a single one-time treatment.

What chromosomal abnormality causes Down Syndrome?

Trisomy 21 (having three copies of chromosome 21).

What karyotype and physical features define Turner's Syndrome?

Karyotype XO (45 chromosomes); features include female phenotype, short stature, webbed neck, lack of pubertal development, cardiac/renal defects, and sterility.

What karyotype and physical traits characterize Klinefelter Syndrome?

Karyotype XXY; physical traits in genetic males include tall stature, underdeveloped testes, gynecomastia, long extremities, wide hips, narrow shoulders, and sterility.

What are the karyotype and adult features of Jacob's Syndrome?

Karyotype XYY; adult males are tall (average $6\text{ ft } 3\text{ in}$), wiry, strong, uncoordinated, have higher testosterone, severe teenage cystic acne, and normal fertility.