NR 507 ADVANCED PATHOPHYSIOLOGY WEEK 8 FINAL
EXAM 2026/2027: 100 QUESTIONS & ANSWERS
SECTION 1: Cellular & Genetic Foundations (15 Questions)
Q1: A patient with chronic alcohol use develops hepatomegaly. Liver biopsy reveals
enlarged hepatocytes with increased smooth endoplasmic reticulum (SER) proliferation.
This cellular adaptation is best described as:
A. Atrophy
B. Hypertrophy
C. Hyperplasia
D. Metaplasia
Correct Answer: C
Rationale: Pathophysiological Sequence: Chronic alcohol exposure (etiology) → induces
cytochrome P450 enzyme synthesis in hepatocytes (pathogenesis) → proliferation of
smooth endoplasmic reticulum to metabolize toxins (cellular adaptation) → organellar
hyperplasia (increase in cell number/structure). While the hepatocytes are enlarged
(compensatory), the key finding is SER proliferation representing hyperplasia of
organelles. This is a reversible, compensatory adaptation. NP Application:
Understanding enzyme induction explains why chronic alcoholics require higher
anesthetic drug doses and have altered medication metabolism. Distractor Analysis:
Atrophy (A) would show decreased cell size/number. Hypertrophy (B) is increase in cell
size without organellar proliferation. Metaplasia (D) would show change from
hepatocytes to another cell type (e.g., bile duct cells).
Q2: Which genetic disorder demonstrates autosomal dominant inheritance with
complete penetrance but variable expressivity?
A. Cystic fibrosis
B. Sickle cell disease
C. Huntington disease
, D. Phenylketonuria (PKU)
Correct Answer: C
Rationale: Genetic Mechanism: Huntington disease → trinucleotide repeat expansion
(CAG) on chromosome 4 → inherited in autosomal dominant pattern with complete
penetrance (100% express if gene present) but variable expressivity (age of
onset/symptom severity varies). This is a gain-of-function mutation. NP Clinical Pearl:
Genetic counseling critical—each child of affected parent has 50% inheritance risk.
Predictive testing available for at-risk individuals. Comparison: Cystic fibrosis (A) and
PKU (D) are autosomal recessive (need 2 mutated alleles). Sickle cell (B) is autosomal
recessive with incomplete dominance in sickle cell trait. Age of Onset HD: Typically
30-50 years (adult-onset neurodegeneration).
Q3: A 45-year-old with Li-Fraumeni syndrome develops breast cancer. The underlying
molecular mechanism involves:
A. Loss of DNA mismatch repair (MLH1 mutation)
B. Loss of p53 tumor suppressor function
C. Overexpression of BRCA1 protein
D. Activation of KRAS oncogene
Correct Answer: B
Rationale: Cancer Pathogenesis: Li-Fraumeni syndrome → germline mutation in TP53
tumor suppressor gene (etiology) → loss of p53-mediated cell cycle arrest and
apoptosis (pathogenesis) → inability to repair DNA damage or eliminate malignant cells
→ multiple primary cancers (breast, sarcoma, brain). p53 is the "guardian of the
genome." NP Application: Affects cancer screening protocols—intensive surveillance
starting in adolescence. Distractor Analysis: MLH1 mutation (A) causes Lynch
syndrome (colorectal, endometrial). BRCA1 overexpression (C) is incorrect; BRCA is a
tumor suppressor—loss of function causes cancer. KRAS activation (D) is an oncogene
mutation seen in many sporadic cancers.
EXAM 2026/2027: 100 QUESTIONS & ANSWERS
SECTION 1: Cellular & Genetic Foundations (15 Questions)
Q1: A patient with chronic alcohol use develops hepatomegaly. Liver biopsy reveals
enlarged hepatocytes with increased smooth endoplasmic reticulum (SER) proliferation.
This cellular adaptation is best described as:
A. Atrophy
B. Hypertrophy
C. Hyperplasia
D. Metaplasia
Correct Answer: C
Rationale: Pathophysiological Sequence: Chronic alcohol exposure (etiology) → induces
cytochrome P450 enzyme synthesis in hepatocytes (pathogenesis) → proliferation of
smooth endoplasmic reticulum to metabolize toxins (cellular adaptation) → organellar
hyperplasia (increase in cell number/structure). While the hepatocytes are enlarged
(compensatory), the key finding is SER proliferation representing hyperplasia of
organelles. This is a reversible, compensatory adaptation. NP Application:
Understanding enzyme induction explains why chronic alcoholics require higher
anesthetic drug doses and have altered medication metabolism. Distractor Analysis:
Atrophy (A) would show decreased cell size/number. Hypertrophy (B) is increase in cell
size without organellar proliferation. Metaplasia (D) would show change from
hepatocytes to another cell type (e.g., bile duct cells).
Q2: Which genetic disorder demonstrates autosomal dominant inheritance with
complete penetrance but variable expressivity?
A. Cystic fibrosis
B. Sickle cell disease
C. Huntington disease
, D. Phenylketonuria (PKU)
Correct Answer: C
Rationale: Genetic Mechanism: Huntington disease → trinucleotide repeat expansion
(CAG) on chromosome 4 → inherited in autosomal dominant pattern with complete
penetrance (100% express if gene present) but variable expressivity (age of
onset/symptom severity varies). This is a gain-of-function mutation. NP Clinical Pearl:
Genetic counseling critical—each child of affected parent has 50% inheritance risk.
Predictive testing available for at-risk individuals. Comparison: Cystic fibrosis (A) and
PKU (D) are autosomal recessive (need 2 mutated alleles). Sickle cell (B) is autosomal
recessive with incomplete dominance in sickle cell trait. Age of Onset HD: Typically
30-50 years (adult-onset neurodegeneration).
Q3: A 45-year-old with Li-Fraumeni syndrome develops breast cancer. The underlying
molecular mechanism involves:
A. Loss of DNA mismatch repair (MLH1 mutation)
B. Loss of p53 tumor suppressor function
C. Overexpression of BRCA1 protein
D. Activation of KRAS oncogene
Correct Answer: B
Rationale: Cancer Pathogenesis: Li-Fraumeni syndrome → germline mutation in TP53
tumor suppressor gene (etiology) → loss of p53-mediated cell cycle arrest and
apoptosis (pathogenesis) → inability to repair DNA damage or eliminate malignant cells
→ multiple primary cancers (breast, sarcoma, brain). p53 is the "guardian of the
genome." NP Application: Affects cancer screening protocols—intensive surveillance
starting in adolescence. Distractor Analysis: MLH1 mutation (A) causes Lynch
syndrome (colorectal, endometrial). BRCA1 overexpression (C) is incorrect; BRCA is a
tumor suppressor—loss of function causes cancer. KRAS activation (D) is an oncogene
mutation seen in many sporadic cancers.
