NPM mutation in AML
Quiz by Sadeq K. Ali Al-Salait
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- Q1
Which of the following is true about the NPM1 gene in acute myeloid leukemia (AML)?
It encodes a single-function protein.
It is primarily located in the cytoplasm.
It is not involved in ribosomal biosynthesis.
It lacks nuclear export signals (NES).
It encodes a multifunctional chaperone protein.
30s - Q2
NPM1 mutations in AML usually lead to:
Cytoplasmic localization of the protein.
Stabilization of p53 interactions.
Exclusive nuclear localization.
Overexpression of CD34 and CD133.
Increased NPM1 wild-type activity.
30s - Q3
Which mutation is most frequently associated with NPM1 in AML?
Type A (TCTG duplication)
Exon 9 mutations
Mutations involving exons 5 and 11
Type B (CATG insertion)
Type D (CCTG insertion)
30s - Q4
What effect does the NPM1 mutation have on tumor suppressor genes?
Promotes nuclear import of tumor suppressors.
Promotes export of tumor suppressor genes.
Enhances tumor suppressor activity.
Induces increased DNA repair activity.
Reduces chromatin binding at HOX loci.
30s - Q5
Which of the following proteins are involved in leukemogenesis promoted by NPM1 mutation?
BRD4 and c-MYC
TP53 and BRCA1
NF-κB and ERK
ARF, HEXIM1, FBW7, MIZ1
WNT and TGF-β
30s - Q6
In the context of NPM1-mutated AML, what is the significance of CD34 expression?
It indicates multilineage dysplasia.
It is highly expressed.
It is typically low or absent.
It predicts response to chemotherapy.
It correlates with poor prognosis.
30s - Q7
What type of genetic alteration is most common in NPM1-mutated AML?
Exon 8 duplication
Point mutation in exon 5
4-bp insertion in exon 12
Whole-gene deletion
Chromosomal translocation
30s - Q8
NPM1 mutations are most frequently associated with which cytogenetic profile in AML?
Deletion of chromosome 5q
Monosomy 7
Complex karyotype
Trisomy 21
Normal karyotype
30s - Q9
Which transcription factors are affected by NPM1 mutations in AML?
GATA1 and GATA2
CTCF65 and PU.1
STAT3 and STAT5
NF-κB and c-Myc
RUNX1 and ETV6
30s - Q10
Which of the following gene mutations is commonly co-occurring with NPM1 mutations in AML?
BRAF
TP53
FLT3-ITD
JAK2
KRAS
30s - Q11
What percentage of newly diagnosed AML cases involve NPM1 mutations?a)
b)
c)
d)
e)
30-35%
20-25%
50-60%
5-10%
10-15%
30s - Q12
The diagnosis of NPM1-mutated AML can be confirmed by:
Identifying a high WBC count without FLT3 mutations
Observing overexpression of NPM1 in the nucleus
Detecting a frameshift mutation in exon 9
Excluding mutations in DNMT3A and TET2
Demonstrating aberrant cytoplasmic localization of NPM1
30s - Q13
Which of the following is a typical finding in the bone marrow of NPM1-mutated AML patients?
Normal cellularity with high reticulin fibers
Decreased bone marrow blasts
Increased reticulin and blast cells
Hypocellularity with decreased megakaryocytes
Hypercellularity without significant reticulin increase
30s - Q14
Which method is ideal for minimal residual disease (MRD) monitoring in NPM1-mutated AML?
Real-time quantitative PCR (RQ-PCR)
Flow cytometry
FISH analysis
ELISA
Southern blotting
30s - Q15
Which mutation is associated with favorable prognosis in the absence of FLT3-ITD?
RUNX1
NRAS
TP53
DNMT3A
TET2
30s