Glossary

Rapid, short-lived response to injury with vascular changes, edema, and neutrophil infiltration. Cardinal signs: rubor, calor, tumor, dolor, functio laesa.

Loss of structural and functional differentiation. Hallmark of malignancy.

Formation of new vessels. Essential for tumors >1–2 mm.

Programmed, ATP-dependent cell death with intact membrane, cell shrinkage, chromatin condensation, apoptotic body formation. Does NOT trigger inflammation.

Cellular self-digestion: autophagosome → fuses with lysosome → degrades damaged organelles. Activated by starvation (AMPK↑, mTOR↓).

One mutated allele is sufficient. Affects both sexes, vertical transmission, 50% offspring risk.

Both alleles mutated. Carrier parents asymptomatic; 25% affected offspring; horizontal pattern in siblings.

Regulators of mitochondrial apoptosis. Pro-apoptotic: BAX, BAK, BID, BIM. Anti-apoptotic: BCL-2, BCL-XL, MCL-1.

Cheese-like, friable necrotic tissue with granulomatous inflammation.

Prolonged response with macrophages, lymphocytes, plasma cells, tissue destruction, repair, fibrosis.

Tissue architecture preserved as 'tombstones' due to protein denaturation. Most ischemic infarcts.

Group of metabolic disorders with chronic hyperglycemia from defects in insulin secretion, action, or both.

22q11.2 deletion. CATCH-22: Cardiac, Abnormal facies, Thymic aplasia, Cleft palate, Hypocalcemia.

Epithelial-Mesenchymal Transition: loss of E-cadherin, gain of N-cadherin/vimentin, gain of motility.

30–150 nm extracellular vesicle derived from MVB. Carries proteins, mRNA, miRNA.

Most common inherited intellectual disability. CGG trinucleotide expansion in FMR1 (Xq27.3).

Ischemic necrosis of a limb. Dry: coagulative. Wet: superimposed bacterial liquefactive.

Focal collection of epithelioid macrophages, often with multinucleated giant cells and lymphocytes.

Increase in cell number. Physiologic (endometrium) or pathologic (endometrial hyperplasia).

Increase in cell size. Common in non-dividing cells (cardiac, skeletal muscle).

Parent-of-origin-specific gene expression via differential methylation.

47,XXY. Tall stature, gynecomastia, small testes, infertility, learning issues.

Tumor suppressors require biallelic inactivation. Familial cancers inherit one hit.

Malignant clonal proliferation of hematopoietic cells in bone marrow.

Tissue digested by enzymes → fluid/pus. Classic in brain infarcts and bacterial abscesses.

AD mutation in FBN1 → defective fibrillin-1 → weak elastic tissue.

Replacement of one mature cell type with another. Reversible if stimulus removed.

Spread of malignant cells from primary to distant site.

Transcription factor proto-oncogene. Translocation t(8;14) in Burkitt lymphoma.

Accidental, ATP-deplete cell death with membrane rupture and inflammation.

First responder of acute inflammation. Phagocytic; releases NETs.

Mutated proto-oncogene with gain-of-function driving proliferation.

'Guardian of the genome'. Senses DNA damage → arrest (p21), repair, or apoptosis (BAX↑).

Lipid phosphatase that opposes PI3K. Loss → constitutive AKT signaling.

Retinoblastoma protein. Binds E2F → blocks G1→S transition until phosphorylated.

Large bi/multinucleated B-cell with 'owl-eye' nuclei. Diagnostic for Hodgkin lymphoma.

AR HbS: Glu→Val at position 6 of β-globin. Sickling under deoxygenation, acidosis, dehydration.

Selective Estrogen Receptor Modulator. Antagonist in breast, agonist in endometrium/bone.

AR. Reduced synthesis of α or β globin chains → microcytic anemia.

Down syndrome. Most common chromosomal disorder. Maternal age risk factor.

Gene whose loss-of-function promotes cancer. Requires biallelic inactivation.

45,X. Short stature, primary amenorrhea, streak ovaries, webbed neck.

Vascular Endothelial Growth Factor. Master regulator of angiogenesis.

Males hemizygous, affected. Females heterozygous = carriers. No male-to-male transmission.