Pathophysiology | Wilkes University | Q&A|
1. A researcher identifies a chromosomal abnormality in which a segment of chromosome 4 is
translocated to chromosome 20. Which genetic term describes this structural alteration?
A) Deletion
B) Duplication
C) Translocation
D) Inversion
Correct Answer: Translocation
Rationale: A translocation is the exchange of genetic material between non-homologous
chromosomes, as described. Deletion involves loss of a chromosomal segment. Duplication involves
an extra copy of a segment. Inversion involves a segment that is reversed within the same
chromosome. Translocations can be balanced or unbalanced and are associated with various
malignancies.
2. An individual inherits a mutated tumor suppressor gene that requires a second somatic mutation
for cancer to develop. This two-hit hypothesis is classically associated with which gene?
A) KRAS
B) MYC
C) RB1
D) HER2
Correct Answer: RB1
Rationale: The RB1 gene, associated with retinoblastoma, follows the two-hit hypothesis where both
alleles must be inactivated for tumor development. KRAS and MYC are oncogenes. HER2 is a growth
factor receptor that can be overexpressed in cancer. The two-hit model explains the hereditary
predisposition to certain cancers where one inherited mutation requires a second acquired mutation.
3. A patient with a known BRCA1 mutation develops breast cancer. Which DNA repair pathway is
primarily compromised in this patient?
A) Base excision repair
B) Nucleotide excision repair
,C) Mismatch repair
D) Homologous recombination repair
Correct Answer: Homologous recombination repair
Rationale: BRCA1 and BRCA2 are critical for homologous recombination repair of double-strand DNA
breaks. Base excision repair handles small, non-bulky lesions. Nucleotide excision repair fixes bulky
DNA adducts. Mismatch repair corrects replication errors. Compromised homologous recombination
leads to genomic instability and increased cancer risk.
4. A pathologist examining a biopsy notes cells with a high nuclear-to-cytoplasmic ratio, prominent
nucleoli, and frequent mitotic figures. Which cellular characteristic is most consistent with
malignancy?
A) Well-differentiated morphology
B) Anaplasia
C) Organized tissue architecture
D) Absence of mitotic activity
Correct Answer: Anaplasia
Rationale: Anaplasia refers to the lack of cellular differentiation in malignant tumors, characterized by
pleomorphism, high nuclear-to-cytoplasmic ratio, hyperchromatic nuclei, and increased mitotic
activity. Well-differentiated morphology and organized architecture are features of benign tumors.
Absence of mitotic activity is not consistent with malignancy.
5. In the multi-step model of carcinogenesis, which event is considered the initial driver of malignant
transformation?
A) Activation of apoptotic pathways
B) Inactivation of tumor suppressor genes
C) Acquisition of a growth factor independence
D) Development of metastatic capability
Correct Answer: Inactivation of tumor suppressor genes
Rationale: The multi-step model of carcinogenesis begins with the inactivation of tumor suppressor
genes, such as p53 or RB1, which removes critical growth control mechanisms. Apoptotic pathways
are typically suppressed, not activated. Growth factor independence and metastatic capability are
later events in tumor progression.
, 6. A patient with chronic hepatitis C develops hepatocellular carcinoma. Which viral mechanism
contributes most directly to this neoplastic transformation?
A) Direct integration of viral DNA into the host genome
B) Chronic inflammation leading to oxidative stress and DNA damage
C) Production of viral oncoproteins that activate cell cycle progression
D) Immune suppression allowing uncontrolled cell growth
Correct Answer: Chronic inflammation leading to oxidative stress and DNA damage
Rationale: Hepatitis C virus (HCV) is an RNA virus that does not integrate into the host genome.
Hepatocellular carcinoma arises primarily from chronic inflammation, fibrosis, and cirrhosis, which
generate reactive oxygen species and promote DNA damage and cell proliferation. While immune
responses are involved, chronic inflammation is the predominant mechanism.
7. Which immunologic phenomenon is characterized by the failure of the immune system to recognize
and eliminate malignant cells?
A) Autoimmunity
B) Immunodeficiency
C) Immune surveillance failure
D) Hypersensitivity
Correct Answer: Immune surveillance failure
Rationale: Immune surveillance failure describes the inability of the immune system to detect and
destroy neoplastic cells, allowing tumor growth. Autoimmunity is an immune response against self-
antigens. Immunodeficiency is a generalized defect in immune function. Hypersensitivity is an
exaggerated immune response to an antigen.
8. A tumor marker is found to be elevated in a patient with colorectal cancer. Which marker is most
specific for this malignancy?
A) CA 19-9
B) Carcinoembryonic antigen (CEA)
C) Alpha-fetoprotein (AFP)
D) CA 125
Correct Answer: Carcinoembryonic antigen (CEA)