Cancer Cytogenetics - Lymphoid Neoplasms Flashcards
Recite the most common cytogenetic abnormalities in B-ALL.
t(9;22) - BCR-ABL1 t(v;11q23.3) - KMT2A/MLL t(12;21) - ETV6-RUNX1 Hyperdiploidy Hypodiploidy t(5;14) - IL3-IgH t(1;19) - E2A-PBX1
Predict the prognostic effect of each of the following cytogenetic abnormalities in B-ALL:
- ETV6/RUNX1 fusion t(12;21)
- Trisomies 4, 10, 17
- BRC-ABL1 fusion
- KMT2A/MLL rearrangement
- Favorable
- Favorable
- Unfavorable
- Unfavorable
Describe the trend of cytogenetic abnormalities of B-ALL with age:
- t(4;11)
- t(9;22)
- t(12;21)
- t(1;19)
- High hyperdiploidy
- IgH translocations
- Occurs almost entirely in infants
- Increases with age
- Occurs more in young children
- Occurs more in young children
- Occurs more in young children
- Increases with age
Which translocation in B-ALL can be detected in rare cases in utero?
What is the resulting immunophenotype?
MLL rearrangements, particularly t(4;11).
CD19+, CD10-, CD24- pro-B immunophenotype.
B-ALL with t(12;21):
- Abnormality?
- Epidemiology?
- Prognosis?
- Translocation between ETV6 and RUNX1.
- Common in children (25% of cases), not infants or adults.
- Good prognosis.
B-ALL with t(12;21):
- Immunophenotype?
- Clinical or morphologic features?
- CD19+, CD10+, CD34+, CD4-, CD20-
- None; presents similarly to other ALL patients.
B-ALL with hyperdiploidy:
- Abnormality?
- Epidemiology?
- Prognosis?
- Gain to a total of 50-66 chromosomes, typically without structural abnormalities.
- Common in children (25% of cases), not infants or adults.
- Very good prognosis.
B-ALL with hyperdiploidy:
- Immunophenotype?
- Clinical or morphologic features?
- CD19+, CD10+, CD34+, CD45-…typical.
- No unique morphologic or cytochemical features.
B-ALL with hypodiploidy:
- Abnormality?
- Epidemiology?
- Prognosis?
- <46 chromosomes
- 5% of all ALL, seen in both children and adults.
- Poor prognosis
What role does cytogenetics play for describing T-ALL?
Very little; genetic abnormalities are not yet used for risk stratification in T-ALL.
Review of CLL:
- What is the usual immunophenotype?
- What is the peripheral blood morphologic finding?
- CD5, CD19, CD20, CD22, CD23, CD43, CD78A.
2. Smudge or basket cells
Predict the prognostic effect of these cytogenetic abnormalities in CLL:
- 17p deletion (TP53)
- 11q deletion (ATM)
- 13q deletion
- Trisomy 12
- Unfavorable
- Unfavorable
- Favorable
- Favorable
Describe the lymphoma and immunophenotype associated with t(14;18).
Follicular lymphoma; CD10+, BCL-2+, BCL-6+, CD43-
Describe the lymphoma and immunophenotype associated with t(11;14)
Mantle cell lymphoma; CD5+, CD43+, CyclinD1+
Describe the lymphoma and immunophenotype associated with t(8;14)
Burkitt lymphoma; BCL2-, BCL6-
How can burkitt and DLBCLs be distinguished?
DLBCLs have more complex karyotypes, some BCL2/6 positivity, and do not as frequently express MYC rearrangements.
What is a double-hit lymphoma?
A lymphoma (usually DLBCL) with concurrent MYC rearrangement and BCL2/6 translocations. These cases are highly refractory to treatment.
What is the most important cytogenetic characterization of anaplastic large cell lymphomas?
ALK positivity; t(v;2) for which any positivity is favorable.
What are the main two cytogenetic profiles of multiple myeloma? Which is more favorable?
Hyperdiploid / Trisomies (better!)
IgH translocations (variable, with some favorable and some unfavorable)
Which IgH translocations in multiple myeloma are favorable? Which are unfavorable?
Favorable: t(6;14) & t(11;14) (cyclin D translocations)
Intermediate: t(4;14) (FGFR-3)
Poor: t(14;16) & t(14;20) (MAF)
Predict the prognostic significance of the following secondary cytogenetic abnormalities in MM:
- Del(17p)
- +1q22
- Del(1p)
- Del(13)
- Unfavorable
- Unfavorable
- Unfavorable
- Intermediate (associated with t(4;14)).
