1What are some clinical symptoms for Polycythemia Vera?
Headaches, weakness, pruritus, fatigue, hemorrhage, weight loss,
hypertension, and cardiovascular disease
2What is the WHO criteria for PV diagnosis?
HGB, elevated HCT, and elevated red cell mass
BM hypercellularity with trilineage growth.
Identification of the JAK2 mutation.
Minor criteria: low serum EPO
3What is the most common complication of Polycythemia Vera?
Thrombosis or blood clots due to increased blood viscosity and decreased blood flow
4What is the main “supportive” therapy for Polycythemia Vera?
Plebotomy
5What gene is mutated when a patient suffers from primary Polycythemia Vera?
Janus-kinase2 (JAK2)
6Are auer rods a common finding in AML t(9;11);KMT2A (MLL)-MLLT3?
NO
7What is the Surface Marker that allows IgG4 antibody drugs to attack AML with KMT2A-r monoblasts in chemotherapy?
CD33
8In Acute Myeloid Leukemia with t(9;11)(p22;q23)-M5 what are the affected genes?
KMT2A / MLLT3
9What stains are positive for AML t(9;11);KMT2A (MLL)-MLLT3?
NSE
10A child patient has gingival bleeding. Their PBS showed thrombocytopenia, and monoblasts were prominent. Further investigation found their blood cells were positive for CD64+ and CD11c+. What is a possible diagnosis?
AML t(9;11);KMT2A (MLL)-MLLT3
11A patient suspected with ALL had immunophenotyping done for confirmation. Which of the following immunophenotypes would confirm that a patient has Early (pro/pre-pre) B-ALL?
CD34, CD19, cytoplasmic CD22, TdT
12The SF3B1 mutation is associated with which of the following conditions:
MDS with ring sideroblast
13Which of the following features is not associated with MDS-RS?
A. SF3B1 gene mutation
B. Ring sideroblast in PB and BM
C. LYST 1 gene mutation
D. Dimorphic cell population: normochromic, hypochromic
C. LYST 1 gene mutation
14An erythroblast with visible accumulation of iron granules in a ring like pattern is associated with following conditions:
A. AML-M3
B. Infectious Mononucleosis
C. MDS-RS
D. Chediak-Higashi Syndrome
C
15Approximately 1- 2% of cases of RARS evolve to _____?
A. ALL
B. AML
C. CML
D. CLL
B
16Chromosomal abnormalities are directly correlated with the presence of the __________ population in patients with MDS.
A. Promyelocyte
B. Blast
C. Megakaryocyte
D. Erythrocyte
E. None of the above
B.
17Is genetic aberration sufficient for diagnosis pertaining to AML with inv(16) (p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11?
YES
18Which genetic abnormality is associated with Acute Myeloid Leukemia (AML) characterized by inv(16)(p13.1q22) or t(16;16)(p13.1;q22)?
A. FLT3-ITD
B. CBFB-MYH11
C. NPM1 mutation
D. BCR-ABL fusion
B.
19All of the following are included in therapeutic management of AML with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) except:
A. Allogeneic stem cell transplantation
B. Continuous MRD (measurable residual disease) assessment for at least the first 2 years following remission
C. High-dose cytarabine-based therapy
D. Reduction of CBFB-MYH11 fusion transcript levels based on qRT-PCR
E. All the above
E.
20CBFB-MYH11 alters normal transcription of RUNX.
True
21What role does the CBFB-MYH11 fusion protein play in the pathogenesis of AML associated with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)?
A. It promotes normal cell differentiation.
B. It blocks myeloid differentiation, leading to blast accumulation.
C. It activates the PI3K/AKT pathway and inhibits p53.
D. It has no impact on cellular processes
B?
22What are some typical morphological abnormalities seen in the peripheral blood smear of patients with this t(8;21) translocation of AML?
Presence of myeloblasts with high nuclear-cytoplasmic ratio
Auer rods
Pseudo-Pelger-Huet cells (hyposegmented neutrophils)
hypogranulation
and eosinophilia
23How does the t(8;21)(q22;q22.1) translocation contribute to development of leukemia cells?
The translocation results in the formation of a new fusion gene called RUNX1-RUNX1T1. This gene disrupts normal cell growth and differentiation, leading to the development of leukemia cells.
24Who is most likely to be affected by AML with t(8;21)(q22;q22.1); RUNX1-RUNX1T1?
more commonly found in younger adults and
children but can occur at any age. It is one of the more common cytogenetic abnormalities seen in AML
25What genetic events are involved in “Driver myeloma events”?
MYC secondary arrangements, deletion 13(p), 1q+, RAS mutations
26Which of the following chromosome abnormalities is associated with MM?
t(11;14)
27CD38+, CD138+, CD56+, and clonality are consistent with:
Multiple myeloma
28What are the major clinical complications in MM?
Hypercalcemia, renal failure, anemia, bone lytic lesions
29What is the translocation associated with M3?
t(15;17)
30What is the BEST possible treatment option for M3 patient?
All-Trans-Retinoic-Acid (ATRA), which induces differentiation of promyelocytes
31What are the two types of promyelocytes that can be seen in M3?
Hypergranulated with Faggot cells and Hypogranulated with angelwings
32For diagnosing AML with PML-RARA, is blast count sufficient if you have determined the translocation (15:17)?
No, as long as the translocation (15:17) has been detected by using molecular studies, blast count does not provide enough diagnostic information
33What is the percentage of AML cases associated with M3?
5-10%