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Rotation - Cytogenetics > Cancer Cytogenetics - Lymphoid Neoplasms > Flashcards

Cancer Cytogenetics - Lymphoid Neoplasms Flashcards

1
Q

Recite the most common cytogenetic abnormalities in B-ALL.

A 
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
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2
Q

Predict the prognostic effect of each of the following cytogenetic abnormalities in B-ALL:

  1. ETV6/RUNX1 fusion t(12;21)
  2. Trisomies 4, 10, 17
  3. BRC-ABL1 fusion
  4. KMT2A/MLL rearrangement
A
  1. Favorable
  2. Favorable
  3. Unfavorable
  4. Unfavorable
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3
Q

Describe the trend of cytogenetic abnormalities of B-ALL with age:

  1. t(4;11)
  2. t(9;22)
  3. t(12;21)
  4. t(1;19)
  5. High hyperdiploidy
  6. IgH translocations
A
  1. Occurs almost entirely in infants
  2. Increases with age
  3. Occurs more in young children
  4. Occurs more in young children
  5. Occurs more in young children
  6. Increases with age
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4
Q

Which translocation in B-ALL can be detected in rare cases in utero?

What is the resulting immunophenotype?

A

MLL rearrangements, particularly t(4;11).

CD19+, CD10-, CD24- pro-B immunophenotype.

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5
Q

B-ALL with t(12;21):

  • Abnormality?
  • Epidemiology?
  • Prognosis?
A
  • Translocation between ETV6 and RUNX1.
  • Common in children (25% of cases), not infants or adults.
  • Good prognosis.
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6
Q

B-ALL with t(12;21):

  • Immunophenotype?
  • Clinical or morphologic features?
A
  • CD19+, CD10+, CD34+, CD4-, CD20-

- None; presents similarly to other ALL patients.

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7
Q

B-ALL with hyperdiploidy:

  • Abnormality?
  • Epidemiology?
  • Prognosis?
A
  • 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.
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8
Q

B-ALL with hyperdiploidy:

  • Immunophenotype?
  • Clinical or morphologic features?
A
  • CD19+, CD10+, CD34+, CD45-…typical.

- No unique morphologic or cytochemical features.

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9
Q

B-ALL with hypodiploidy:

  • Abnormality?
  • Epidemiology?
  • Prognosis?
A
  • <46 chromosomes
  • 5% of all ALL, seen in both children and adults.
  • Poor prognosis
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10
Q

What role does cytogenetics play for describing T-ALL?

A

Very little; genetic abnormalities are not yet used for risk stratification in T-ALL.

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11
Q

Review of CLL:

  1. What is the usual immunophenotype?
  2. What is the peripheral blood morphologic finding?
A
  1. CD5, CD19, CD20, CD22, CD23, CD43, CD78A.

2. Smudge or basket cells

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12
Q

Predict the prognostic effect of these cytogenetic abnormalities in CLL:

  1. 17p deletion (TP53)
  2. 11q deletion (ATM)
  3. 13q deletion
  4. Trisomy 12
A
  1. Unfavorable
  2. Unfavorable
  3. Favorable
  4. Favorable
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13
Q

Describe the lymphoma and immunophenotype associated with t(14;18).

A

Follicular lymphoma; CD10+, BCL-2+, BCL-6+, CD43-

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14
Q

Describe the lymphoma and immunophenotype associated with t(11;14)

A

Mantle cell lymphoma; CD5+, CD43+, CyclinD1+

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15
Q

Describe the lymphoma and immunophenotype associated with t(8;14)

A

Burkitt lymphoma; BCL2-, BCL6-

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16
Q

How can burkitt and DLBCLs be distinguished?

A

DLBCLs have more complex karyotypes, some BCL2/6 positivity, and do not as frequently express MYC rearrangements.

17
Q

What is a double-hit lymphoma?

A

A lymphoma (usually DLBCL) with concurrent MYC rearrangement and BCL2/6 translocations. These cases are highly refractory to treatment.

18
Q

What is the most important cytogenetic characterization of anaplastic large cell lymphomas?

A

ALK positivity; t(v;2) for which any positivity is favorable.

19
Q

What are the main two cytogenetic profiles of multiple myeloma? Which is more favorable?

A

Hyperdiploid / Trisomies (better!)

IgH translocations (variable, with some favorable and some unfavorable)

20
Q

Which IgH translocations in multiple myeloma are favorable? Which are unfavorable?

A

Favorable: t(6;14) & t(11;14) (cyclin D translocations)
Intermediate: t(4;14) (FGFR-3)
Poor: t(14;16) & t(14;20) (MAF)

21
Q

Predict the prognostic significance of the following secondary cytogenetic abnormalities in MM:

  1. Del(17p)
  2. +1q22
  3. Del(1p)
  4. Del(13)
A
  1. Unfavorable
  2. Unfavorable
  3. Unfavorable
  4. Intermediate (associated with t(4;14)).

Rotation - Cytogenetics (5 decks)

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