Oncology Acquired Flashcards
A scientist in a clinical molecular laboratory decides to validate a qualitative assay for B-cell clonality (IGH and IGK) tests by a PCR method based on the BIOMED-2 consensus. For which one of the following malignancies is this assay NOT appropriate?
A.AML with normal karyotype and FISH
B.CLL with normal FISH
C.Follicular lymphoma with normal FISH
D.Plasma-cell myeloma with normal FISH
E.All of the above
A.AML with normal karyotype and FISH
A scientist in a clinical molecular laboratory decides to validate a qualitative assay for B-cell clonality (IGH) tests by a PCR method based on the BIOMED-2 consensus. In which one of the following situations could the results be false negative?
A.Absent or incomplete IGH rearrangements in immature B-cell neoplasms in pre-B-cell ALL
B.The presence of extensive somatic mutation in follicular lymphoma
C.Negative results caused by DNA degradation on the positive control
D.A and B
E.B and C
F.All of the above
G. None of the above
F.All of the above
A scientist in a clinical molecular laboratory decides to validate a qualitative assay for T-cell clonality (TCRG and TCRB) tests by a PCR method based on the BIOMED-2 consensus. For which one of the following malignancies is this assay NOT appropriate?
A.AML with normal karyotype and FISH
B.Follicular lymphoma with normal FISH
C.Plasma-cell myeloma with normal FISH
D.All of the above
E.None of the above
D.All of the above
The morphological and immunophenotypic findings were suspicious for extranodal marginal-zone lymphoma (such as MALT lymphoma). The MALT1 break-apart FISH was negative. Which one of the following assays would help to further establish the diagnosis if the oncologist still suspected that the patient had MALT lymphoma?
A.ALK amplification
B.BRAF V600E
C.IGH and IGK clonality tests
D.TCRG and TCRB clonality test
E.All of the above
F.None of the above
C.IGH and IGK clonality tests
A 42 yo present for nasopharyngeal mass. Histopathological examinations revealed CD3+, CD4+, CD8+, TdT+, and EBER+. The karyotype of the tumor specimen was a normal male, or 46,XY. Which one of the following assays would help to further establish the diagnosis of lymphoma?
A.ALK amplification
B.BRAF V600E
C.IGH and IGK clonality tests
D.TCRG and TCRB clonality test
E.All of the above
F.None of the above
D.TCRG and TCRB clonality test
75 yo man with neck mass. The physician ordered a test to assess clonality in the IGH gene. The result of one of the amplicons for the VH frameworks is shown for the bone marrow (A) and the mass (B) The top panel was from the bone marrow and the bottom was from the biopsy of the left neck mass. Which one of the following interpretations of the results would be the most appropriate?
A.The results of the bone-marrow biopsy indicated a clonal proliferation of B cells.
B.The results of the bone-marrow biopsy indicated a clonal proliferation of T cells.
C.The results of the biopsy from the neck mass indicated a clonal proliferation of B cells.
D.The results of the biopsy from the neck mass indicated a clonal proliferation of T cells.
E.The results of both samples indicated a clonal proliferation of B cells.
F.The results of both samples indicated a clonal proliferation of T cells.
C.The results of the biopsy from the neck mass indicated a clonal proliferation of B cells.
75 yo man with neck mass. The result of one of the amplicons for the VH frameworks are shown in Fig. 8.1. The top panel was from the bone marrow and the bottom was from the biopsy of the left neck mass. Which one of the following interpretations of the results would be the most appropriate?
A.The results indicated a clonal proliferation of B cells in the neck mass but not in the bone marrow. Therefore, the patient had B-cell lymphoma that had not metastasized into the bone marrow.
B.The results indicated a clonal proliferation of B cells in the bone marrow but not in the neck mass. Therefore, the patient had B-cell leukemia.
C.The results indicated a clonal proliferation of B cells in the neck mass but not in the bone marrow. These findings supported a diagnosis of B-cell lymphoma, but reactive lymphoproliferations cannot be completely ruled out.
D.The results indicated a clonal proliferation of B cells in the neck mass but not in the bone marrow. Therefore, the patient had B-cell lymphoma that had metastasized into the bone marrow.
E.The results indicated a clonal proliferation of B cells in bone marrow but not in the neck mass. Therefore, the patient had B-cell leukemia that had not metastasized into a remote site, such as the neck.
C.The results indicated a clonal proliferation of B cells in the neck mass but not in the bone marrow. These findings supported a diagnosis of B-cell lymphoma, but reactive lymphoproliferations cannot be completely ruled out.
7 yo with elevated WBC. A bone-marrow biopsy was obtained and revealed 30% lymphoblasts with expression of CD3, CD4, and CD8. A chest CT detected superior mediastinal masses. The physician ordered a test to assess the TCRG and TCRB gene rearrangement. The top panel was from a normal control, the middle from the bone marrow, and the bottom from the biopsy of the mass.
A.The results of the bone-marrow biopsy indicated a clonal proliferation of B cells.
B.The results of the bone-marrow biopsy indicated a clonal proliferation of T cells.
C.The results of the biopsy from the mass indicated a clonal proliferation of B cells.
D.The results of the biopsy from the mass indicated a clonal proliferation of T cells.
E.The results of both samples indicated a clonal proliferation of B cells.
F.The results of both samples indicated a clonal proliferation of T cells.
F.The results of both samples indicated a clonal proliferation of T cells.
The EuroClonality (BIOMED-2) consortium has led to standardization and has significantly improved detection of the clonality of malignant B-cell/T-cell lymphomas/leukemias. Which one of the following is the standard method for the clonal assessment?
A.PCR/capillary electrophoresis
B.PCR/Sanger sequencing
C.Next-generation sequencing (NGS)
D.Restriction-fragment–length polymorphism (RFLP)
E.Southern blotting
A.PCR/capillary electrophoresis
he TCRB assay uses three separate multiplex master mix tubes (Tubes A, B, and C), while the TCRG assay utilizes two multiplex master mix tubes (Tubes A and B).
Which one of the following statements regarding molecular T-cell receptor gene rearrangement analysis is CORRECT?
A.The TCRA gene is the most commonly tested locus.
B.The TCRB gene is the most commonly tested locus.
C.The TCRC gene is the most commonly tested locus.
D.The TCRD gene is the most commonly tested locus.
E.The TCRG gene is the most commonly tested locus.
E.The TCRG gene is the most commonly tested locus
TCRα and TCRδ on chromosome 14
TCRβ and TCRγ on chromosome 7
Which one of the following statements regarding the assessment of the clonality in the immunoglobulins or TCRs is CORRECT?
A.DNAs from paraffin-embedded tissue have higher detection rate than DNAs from bone-marrow samples.
B.“Pseudoclonality” usually happens when patients have leukocytosis.
C.Single clonal or oligoclonal results are always associated with neoplasms.
D.The sensitivity of the BIOMED-2 assay for TCRG and TCRB is more than 90%.
E.The utility of the assay is limited in the early stages of lymphomas/leukemias.
D.The sensitivity of the BIOMED-2 assay for TCRG and TCRB is more than 90%.
Which one of the following statements regarding the assessment of the clonality in the immunoglobulins (IGH and IGK) or TCRs (TCRG and TCRB) is NOT correct?
A.PCR/capillary electrophoresis works better than Southern blot for paraffin-embedded tissue.
B.PCR/capillary electrophoresis is more sensitive than Southern blot. C.PCR/capillary electrophoresis is less time consuming than Southern blot.
D.PCR/capillary electrophoresis may detect more possible clonal rearrangements than Southern blot.
E.PCR/capillary electrophoresis has a higher false positive rate than Southern blot.
D.PCR/capillary electrophoresis may detect more possible clonal rearrangements than Southern blot.
What is the difference between the immunoglobulin (IGH and IGK) and T-cell receptor (TCRG and TCRB) clonal rearrangements?
A.A developing T cell has fewer chances to productively rearrange β chains than a developing B cell has for H chains.
B.Somatic hypermutation does not generate diversity in T-cell receptors, while it does in B-cell immunoglobulin.
C.TCR loci are rearranged by the different enzymes from the immunoglobulin loci.
D.TCR has fewer rearrangements than immunoglobulin.
E.TCR rearrangements happen throughout the lifetime, while Ig rearrangements happen only before adolescence.
B.Somatic hypermutation does not generate diversity in T-cell receptors, while it does in B-cell immunoglobulin.
Which immunoglobulin(s) is(are) most commonly used for the clonal assessment?
A.IGH D–J and IGK
B.IGH V–J and IGK
C.IGH V–J and IGL
D.IGH D–J and IGL
E.IGH D–J F.IGH V–J
B.IGH V–J and IGK
The EuroClonality (BIOMED-2) consortium has led to standardization and has significantly improved detection of the clonality of malignant B-cell/T-cell lymphomas/leukemias. Which T-cell receptor (TCR) gene(s) is(are) most commonly used for the clonal assessment?
A.TCRA
B.TCRD
C.TCRD and TCRA
D.TCRB
E.TCRG
F.TCRG and TCRB
F.TCRG and TCRB
Chromosome 7
The physician ordered a test to assess the clonality in the IGH gene for a neck mass in an 80 yo. The results showed three low-amplitude peaks. The internal control, known polyclonal control, and known clonal control showed the expected results. Which one of the following would be the most appropriate next step in the workup?
A.Repeating the test with the same specimen
B.Requesting second specimen for confirmation
C.Signing the case out as positive for B cell monoclonality
D.Any of the above
E.None of the above
A.Repeating the test with the same specimen
For cases with a low percentage of suspected B or T cells, reproducibility of the profiles is essential.
The physician ordered a test to assess the clonality in the IGH gene for a neck mass in an 80 yo. The results showed three low-amplitude peaks. The internal control, known polyclonal control, and known clonal control showed the expected results. The test was repeated with the same sample, and results showed three different low-amplitude peaks. Which one of the following would be the most appropriate interpretation?
A.Presence of oligoclonal IGH populations, consistent with diagnosis of a malignancy
B.Presence of oligoclonal IGH populations, consistent with reactive clones
C.Presence of oligoclonal IGH populations, uncertain significance D.Pseudoclonality, consistent with a paucity of B cells in the sample E.Negative, no clonal IGH populations
F.Wrong sample in the second test, remedial action form needed
D.Pseudoclonality, consistent with a paucity of B cells in the sample
Posttransplantation lymphoproliferative disorder (PTLD) was suspected. To establish the cell clonality, which of the following would be the most informative assay?
A.Southern blot analysis of IGH and IGK gene rearrangement with the biopsy sample
B.Southern blot analysis of IGH and IGK gene rearrangement with the peripheral-blood sample
C.Southern blot analysis of IGH and IGK gene rearrangement with the bone-marrow sample
D.PCR/capillary electrophoresis of IGH and IGK gene rearrangement with the biopsy sample
E.PCR/capillary electrophoresis of IGH and IGK gene rearrangement with the peripheral-blood sample
F.PCR/capillary electrophoresis of IGH and IGK gene rearrangement with the bone-marrow sample
D.PCR/capillary electrophoresis of IGH and IGK gene rearrangement with the biopsy sample
A bone-marrow biopsy was obtained, and the impression was chronic myeloid leukemia (CML) with lymphoid blast crisis. Which molecular genetic test results would most likely be abnormal with this bone-marrow specimen?
A.BCR::ABL1
B.CEBPA
C.FLT3-ITD
D.FLT3-TKD
E.JAK2
F.NPM1
A.BCR::ABL1
The oncologist ordered a qualitative BCR::ABL1 test of this bone-marrow specimen to further characterize this leukemia. Which one of the following statements regarding the qualitative BCR::ABL1 test is correct?
1.It is a DNA-based test.
2.It is a RNA-based test.
3.A single PCR reaction.
4.Multiple PCR reactions.
5.It tests BCR-ABL1 fusion.
6.It tests ABL1-BCR fusion.
E.2, 4, and 5
The oncologist ordered a qualitative BCR::ABL1 test of this bone-marrow specimen to further characterize this myeloproliferative disorder. Which one of the following statements regarding the quantitative BCR::ABL1 test is NOT correct?
A.It is a DNA-based test.
B.It is a reverse transcriptase (RT-PCR) reaction.
C.There is one amplicon for the p190.
D.There are two amplicons for the p210.
E.There is one amplicon for the p230.
A.It is a DNA-based test.
How frequently do patients with chronic myelogenous leukemia (CML) have a BCR::ABL1 fusion gene?
A.95%
B.75%
C.50%
D.25%
E.<5%
A.95%
How frequently do patients with acute myeloid leukemia (AML) have a BCR::ABL1 fusion gene?
A.95%
B.75%
C.50%
D.25%
E.<5%
E.<5%
in 3% of AML and 1% of childhood AML.
How frequently do adult patients with precursor B ALL have a BCR::ABL1 fusion gene?
A.95%
B.75%
C.50%
D.25%
E.<5%
D.25%
How frequently do pediatric patients with precursor B ALL have a BCR::ABL1 fusion gene?
A.95%
B.75%
C.50%
D.25%
E.5%
E.5%
20%–30% of adults and in 5% of children.
The patient was diagnosed with pre-B acute lymphoblastic leukemia (ALL). Which one of the following isoforms of BCR::ABL1 would the patient most likely have?
A.a19b2
B.b2a2
C.b3a2
D.e1a2
E.e13a2
F.e14a2
D.e1a2
p190 = e1a2 = 50-70% of B-ALL
p210 = e13a2 (b2a2) or e14a2 (b3a2)
p230 = e19a2 (c3a2)
Which one of the following BCR::ABL1 fusions would most likely be positive if the patient had a CML with t(9;22)?
A.a19b2
B.e1a1
C.e2a2
D.e3a2
E.e14a2
F.e19a2
E.e14a2
Which one of the following BCR::ABL1 fusions would most likely be positive if the patient had a CML with t(9;22)?
A.a19b2
B.e1a1
C.e2a2
D.e3a2
E.e13a2
F.e19a2
E.e13a2
Which one of the following BCR::ABL1 fusions would most likely be positive if the patient had a CML with t(9;22)?
A.a19b2
B.b2a2
C.b13a2
D.e1a1
E.e19a2
B.b2a2
p210 = e13a2 (b2a2) or e14a2 (b3a2)
Which one of the following fusions of BCR::ABL1 would most likely be positive if the patient had a t(9;22)?
A.a19b2
B.b3a2
C.b14a2
D.e1a1
E.e19a2
B.b3a2
Which one of the following BCR::ABL1 fusions corresponds to the p230 isoform?
A.a19b2
B.b3a2
C.e1a1
D.e13a2
E.e19a2
E.e19a2
Which one of the following BCR::ABL1 fusions corresponds to the p230 isoform?
A.a19b2
B.b3a2
C.c3a2
D.e1a1
E.e13a2
C.c3a2
p230 = e19a2 (c3a2)
Which one of the following BCR::ABL1 fusions corresponds to an isoform with the highest tyrosine kinase activity?
A.a19b2
B.b3a2
C.e1a2
D.e13a2
E.e19a2
C.e1a2
A molecular test was ordered to further assess the resistance. Which one of the following statements regarding the molecular test for imatinib resistance is correct?
A.It is a DNA-based test of the tyrosine kinase domain in the ABL1 gene.
B.It is a DNA-based test of the tyrosine kinase domain in the BCR gene.
C.It is a RNA-based test of the tyrosine kinase domain in the BCR-ABL1 gene.
D.It is a RNA-based test of the tyrosine kinase domain in the ABL1 and BCR-ABL1 genes.
E.It is a RNA-based test of the tyrosine kinase domain in the ABL1-BCR gene.
F.It is a RNA based test of the tyrosine kinase domain in the ABL1 and ABL1-BCR genes.
C.It is a RNA-based test of the tyrosine kinase domain in the BCR-ABL1 gene.
Which one of the following malignancies most likely does NOT have an acquired BCR::ABL1 rearrangement?
A.Acute myeloid leukemia (AML)
B.Acute B lymphoblastic leukemia (B ALL)
C.Acute T lymphoblastic leukemia (T ALL)
D.Chronic lymphocytic leukemia (CLL)
E.Myeloid proliferative neoplasm (MPN)
D.Chronic lymphocytic leukemia (CLL)
A bone-marrow biopsy was obtained and the impression was chronic myeloid leukemia (CML) with lymphoid blast crisis. Chromosome karyotype analyses revealed 46,XX,t(9;22)(q34;q11.2)[6]/48,idem,+8,der(22)t(9;22)(q34;q11.2)[4]/46,XX[10]. The results of a quantitative BCR-ABL1 test were positive for p210. Which one of the following targeted therapies would be most appropriate to this patient?
A.Gleevec (imatinib)
B.Herceptin (trastuzumab)
C.Lynparza (olaparib)
D.Zelboraf (vemurafenib)
E.None of the above
A.Gleevec (imatinib)
CML with EB. Which one of the following molecular tests would be appropriate for this patient in order to assistant in the decision about future therapy?
A.FISH
B.PCR-capillary electrophoresis
C.Sanger sequencing
D.Targeted-mutation analysis
E.All of the above
F.None of the above
A.FISH
BCR::ABL1
One year later the patient had reappearance of BCR::ABL1 p210, even though she had been taking Gleevec (imatinib) as her doctor suggested. The follow-up karyotype results were 46,XX,t(9;22)(q34;q11.2)[12]/46,XX[8]. Which one of the following molecular tests would be appropriate for this patient in order to assistant in the decision about future therapy?
A.Detect amplification of ABL1/BCR rearrangement
B.Detect amplification of BCR/ABL1 rearrangement
C.Detect deletion of BCR/ABL1 rearrangement
D.Identify BCR/ABL1 kinase domain mutation in the ABL1 gene E.Identify BCR/ABL1 kinase domain mutation in the BCR gene F.None of the above
D.Identify BCR/ABL1 kinase domain mutation in the ABL1 gene
BALL with 90% blasts in BM and 2% PB. B cell flow with TdT+, MPO- and CD34+. Qualitative reverse-transcriptase polymerase chain reaction (RT-PCR) test for BCR-ABL1 was ordered, and the result was positive for p190. For which one of the following BCR::ABL1 fusion types would this patient most likely be positive in this specimen?
A.p190
B.p205
C.p210
D.p230
E.All of the above
F.None of the above
A.p190
A qualitative reverse-transcriptase polymerase chain reaction (RT-PCR) test for BCR::ABL1 was ordered, and the result was positive for p190. Which one of the following prognoses would this patient most likely have?
A.Favorable risk
B.Intermediate risk
C.Unfavorable risk
D.Unclear
E.None of the above
C.Unfavorable risk
The oncologist suspected that the patient had primary myelofibrosis (PMF). Which one of the following molecular assays would most likely be ordered to confirm the diagnosis in this patient?
A.BCR-ABL1 qualitative test
B.CALR exon 9 mutation
C.JAK2 exon 12 mutation
D.JAK2 V617F mutation
E.MPL exon 10 mutation
V
A qualitative molecular test demonstrated the JAK2 V617F mutation. Which one of the following conditions would the patient most likely NOT have?
A.Chronic myeloid leukemia (CML)
B.Essential thrombocythemia (ET)
C.Polycythemia vera (PV)
D.Primary myelofibrosis (PMF)
E.None of the above
A.Chronic myeloid leukemia (CML)
The oncologist suspected that the patient had primary myelofibrosis (PMF). A qualitative molecular test demonstrated the presence of the JAK2 V617F mutation. Which one of the following genetic assays would most likely also be positive in this patient?
A.BCR-ABL1 rearrangement
B.CALR exon 9 mutation
C.JAK2 exon 12 mutation
D.MPL exon 10 mutation
E.None of the above
C.JAK2 exon 12 mutation
58 yo white-blood-cell count was 8×103cells/mm3, with an absolute neutrophil count of 1400cells/mm3, hemoglobin 9.3g/dL, and platelet count 76,000cells/mm3. A bone marrow biopsy resulted in a “dry” aspirate, and the core biopsy was markedly fibrotic. An estimate of the blast count based upon touch preps as well as a CD34+/CD117+ immunostaining of the core biopsy demonstrated only 1.2% blasts. A qualitative molecular test demonstrated the absence of the JAK2 V617F mutation. Which one of the following conditions would be ruled out in this patient if the JAK2 V617F molecular test was negative?
A.Chronic myeloid leukemia (CML)
B.Essential thrombocythemia (ET)
C.Polycythemia vera (PV)
D.Primary myelofibrosis (PMF)
E.None of the above
D.Primary myelofibrosis (PMF)
A qualitative molecular test did not detect the JAK2 V617F mutation. But the physician still suspected that the patient had primary myelofibrosis (PMF). Which one of the following molecular genetic tests would be helpful in order to further establish/rule out the diagnosis of PMF in this patient?
A.BCR-ABL1 rearrangement
B.CALR exon 9 mutation
C.JAK2 exon 12 mutation
D.All of the above
E.None of the above
B.CALR exon 9 mutation
A physical examination revealed bruising on the extremities, and palpation of the spleen showed slight splenomegaly. A complete blood count revealed WBCs 12.1×109/L, RBCs 3200×109/L, Hgb 9g/dL, Hct 34%, platelet count 250×109/L, and blasts 0%. A bone-marrow biopsy revealed fibrosis. The karyotype results of the bone marrow showed 46,XX[20]. A qualitative molecular test detected the JAK2 V617F mutation. Which one of the following statements would be most appropriate for this patient?
A.The presence of the JAK2 V617F mutation rules out the diagnosis of chronic myeloid leukemia (CML).
B.The presence of the JAK2 V617F mutation establishes the diagnosis of essential thrombocythemia (ET).
C.The presence of the JAK2 V617F mutation establishes the diagnosis of polycythemia vera (PV).
D.The presence of the JAK2 V617F mutation establishes the diagnosis of primary myelofibrosis (PMF).
E.None of the above.
C.The presence of the JAK2 V617F mutation establishes the diagnosis of polycythemia vera (PV).
The oncologist suspected that the patient had primary myelofibrosis (PMF). A qualitative molecular test did not detect the JAK2 V617F mutation. The oncologist still suspected that the patient had primary myelofibrosis (PMF). Which one of the following molecular genetic tests would be helpful in order to establish the diagnosis in this patient?
A.BCR-ABL1 rearrangement
B.JAK2 exon 12 mutation
C.MPL exon 10 mutation
D.All of the above
E.None of the above
C.MPL exon 10 mutatio
qualitative molecular test did not detect the JAK2 V617F mutation. A reflex molecular test was ordered in order to further confirm/rule out myeloproliferative neoplasm (MPNs). Which one of the following mutations would NOT be part of this reflex test for MPNs in this patient?
A.FLT3-ITD mutation
B.JAK2 T875N mutation
C.MPL W515 mutation
D.MPL S505N mutation
E.None of the above
A.FLT3-ITD mutation
A qualitative molecular test did not detect the JAK2 V617F mutation. A reflex molecular test was ordered in order to further confirm/rule out myeloproliferative neoplasm (MPNs) in this patient, and a mutation in the CALR gene was detected. Which one of the following exons of the CALR gene would the detected mutation most likely be located in this patient?
A.Exon 9
B.Exon 10
C.Exon 12
D.Exon 18
E.Exon 19
A.Exon 9
And a mutation in the exon 9 of the CALR gene was detected. Which one of the following types of mutations in CALR would most likely be detected in this patient?
A.In-frame deletion/insertion
B.Out–of-frame deletion/insertion
C.Single-nucleotide mutation
D.Translocation
E.None of the above
A.In-frame deletion/insertion
52-bp deletion (L367fs46) and a 5-bp insertion (K385fs47)
The oncologist suspected that the patient had primary myelofibrosis (PMF). A qualitative molecular test did not detect the JAK2 V617F mutation. A reflex molecular test was ordered in order to further confirm/rule out myeloproliferative neoplasm (MPNs) in this patient. And a mutation in the exon 9 of the CALR gene was detected. Which one of the following describes the prognostic significance of the mutation detected in the CALR gene for this patient?
A.Favorable prognosis
B.Intermediate prognosis
C.Unfavorable prognosis
D.Better survival than JAK2 mutations
E.Worse survival than JAK2 mutations
F.Unclear
G.None of above
A.Favorable prognosis
A peripheral-blood specimen was collected for a qualitative JAK2 V617F mutation analysis, and the results were positive. Which one of the following conditions most likely has JAK2 V617F?
A.Chronic myeloid leukemia (CML)
B.Essential thrombocythemia (ET)
C.Polycythemia vera (PV)
D.Primary myelofibrosis (PMF)
E.None of the above
C.Polycythemia vera (PV)
Which one of the following molecular abnormalities would this patient most likely have if he had PV?
A.BCR-ABL1 rearrangement
B.CALR mutation
C.JAK2 V617F mutation
D.JAK2 mutation in the exon 12
E.MPL mutation
C.JAK2 V617F mutation
A peripheral-blood specimen was collected for a qualitative JAK2 V617F mutation analysis, and the results were negative. A reflex molecular test was ordered to further confirm/rule out PV in this patient. Which one of the following analyses would most likely be part of this reflex test for this patient with PV?
A.CALR exon 9 mutation
B.JAK2 exon 12 mutation
C.MPL exon 10 mutation
D.All of the above
E.None of the above
D.All of the above
A peripheral-blood specimen was collected for a qualitative JAK2 V617F mutation analysis, and the results were positive. Which one of the following targeted therapies would be most appropriate to this patient?
A.Gleevec (imatinib)
B.Herceptin (trastuzumab)
C.Lynparza (olaparib)
D.Zelboraf (vemurafenib)
E.None of the above
A.Gleevec (imatinib)
A quantitative laboratory assay specific for the JAK2 V617F allele was ordered. The results showed 65% JAK2 V617F in the peripheral-blood sample. Which one of the following statements would be the most appropriate explanation for this finding?
A.All the cancer cells in the sample are heterozygous for the JAK2 V617F mutation.
B.All the cancer cells in the sample are homozygous for the JAK2 V617F mutation.
C.At least some of the cancer cells in the sample are homozygous for the JAK2 V617F mutation.
D.At least some of the cancer cells in the sample are heterozygous for the JAK2 V617F mutation.
E.The result is positive, however, it is not possible to predict the zygosity of the sample.
C.At least some of the cancer cells in the sample are homozygous for the JAK2 V617F mutation.
A quantitative laboratory assay specific for the JAK2 V617F allele was ordered. The results were 80% V617F allele, which suggested that the patient was homozygous for the JAK2 V617K mutation in at least a subset of cells. What would be the most likely explanation for the homozygous JAK2 mutation in this patient?
A.Both copies of JAK2 in some cells were mutated to V617F; this fits the two-hit hypotheses.
B.The patient had one inherited copy of the mutation and one somatic mutation.
C.This is a laboratory error.
D.This may be copy neutral loss of heterozygosity (LOH) due to uniparental disomy (UPD).
E.All of the above.
F.None of the above.
D.This may be copy neutral loss of heterozygosity (LOH)
Which one of the following statements regarding the quantitative JAK2 V617F test is correct?
A.It is a DNA-based test.
B.It is a RNA-based test.
C.It is multiple PCR reactions.
D.The recommended test sensitivity is 0.1%.
E.The recommended test sensitivity is 5%.
A.It is a DNA-based test.
A peripheral-blood specimen was collected for quantitative JAK2 V617F mutation analysis, and the result was positive. How frequently is the JAK2 V617F mutation found in patients with polycythemia vera (PV)?
A.About 3%
B.About 20%
C.About 60%
D.About 80%
E.About 95%
E.About 95%
How frequently is the JAK2 V617F mutation found in patients with essential thrombocythemia (ET)?
A.About 3%
B.About 20%
C.About 60%
D.About 80%
E.About 95%
C.About 60%
A molecular test of the ascending colon tumor sample revealed an acquired pathogenic variant in the KRAS gene, c.182A>G(p.Q61R). Which one of the following interpretations would most likely be appropriate for this patient?
A.The patient would respond well to BRAF inhibitor therapy.
B.The patient would respond well to EGFR inhibitor therapy.
C.The patient would respond well to KRAS inhibitor therapy.
D.All of the above.
E.None of the above.
C.The patient would respond well to KRAS inhibitor therapy.
55 yo Caucasian woman with ascending colon tumor. Histopathological examinations demonstrated adenomatous colorectal carcinoma (CRC). A molecular test of the tumor sample for acquired pathogenic variants in the KRAS was ordered, and the results were negative. Which one of the following therapies would most likely be appropriate for this patient?
A.BRAF inhibitor
B.EGFR inhibitor
C.KRAS inhibitor
D.All of the above
E.None of the above
B.EGFR inhibitor
Which one of the following is a limitation of NGS for DNA analyses of solid tumors?
A.It needs at least a few micrograms of DNA.
B.It is not a sensitive test for detecting low-level mosaicism.
C.It cannot be used on formalin-fixed, paraffin-embedded (FFPE) samples.
D.It cannot detect inv(2) for ALK rearrangement.
E.All of the above.
F.None of the above.
D.It cannot detect inv(2) for ALK rearrangement.
48 yo man with left proximal arm melanoma. Which one of the following BRAF V600 mutations would the patient most likely have?
A.V600D
B.V600E
C.V600G
D.V600K
E.V600R
F.None of the above
B.V600E
Which one of the following BRAF V600 mutations would make the patient suitable for treatment with trametinib (Mekinist tablets, GlaxoSmithKline, LLC) and dabrafenib (Tafinlar capsules, GlaxoSmithKline, LLC) treatment besides V600E, according to the FDA-approval?
A.V600D
B.V600G
C.V600K
D.V600R
E.None of the above
C.V600K
Histological examinations of a punch biopsy led to a diagnosis of Langerhans-cell histiocytosis (LCH). Which one of the following genes would most likely be somatically mutated in this patient?
A.ALK
B.BRAF
C.EGFR
D.KRAS
E.NRAS
F.None of the above
B.BRAF
Which one of the following disorders MOST LIKELY harbors the BRAF V600E mutation?
A.Colorectal carcinoma
B.Langerhans-cell histiocytosis
C.Metastatic melanoma
D.Nonsmall-cell lung cancer
E.Papillary thyroid carcinoma
F.Renal-cell carcinoma
G.None of the above
C.Metastatic melanoma
80% in melanomas and nevi, to 1%–3% in lung cancers and 5% in colorectal cancer.
Which one of the following disorders LEAST likely harbors the BRAF V600E mutation?
A.Colorectal carcinoma
B.Langerhans-cell histiocytosis
C.Metastatic melanoma
D.Nonsmall-cell lung cancer
E.Papillary thyroid carcinoma
F.Renal-cell carcinoma (RCC)
G.None of the above
F.Renal-cell carcinoma (RCC)
A scientist in a clinical molecular laboratory decides to validate a targeted solid tumor next-generation sequencing (NGS) panel including BRAF, EGFR, KRAS, NRAS, and 13 other genes. For which one of the following malignancies is this assay NOT appropriate?
A.Alveolar rhabdomyosarcoma
B.Colorectal carcinoma
C.Embryonal rhabdomyosarcoma
D.Metastatic melanoma
E.Nonsmall-cell lung cancer
F.Papillary thyroid carcinoma
G.None of the above
A.Alveolar rhabdomyosarcoma
Alveolar rhabdomyosarcoma - PAX7-FOXO1 or a PAX3-FOXO1
Aberrant genes observed in embryonal rhabdomyosarcoma include BRAF, CTNNB1, FGFR4, HRAS, KRAS, NRAS, PIK3CA, and PTPN11
