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Hematologic Malignancies 2 Flashcards

1
Q

Diagnostic criteria in bone marrow for acute leukemias

A

>20% blasts in the bone marrow

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2
Q

Immunophenotype of blasts

A

CD34+

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3
Q

Immunophenotype myeloid blasts

A

CD34+ and CD33+

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4
Q

Immunophenotype of lymphoid blasts

A

Tdt+ and CD10+

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5
Q

Immunophenotype of mature B-lymphocytes/lymphoma

A

CD19+ and CD20+

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6
Q

Immunophenotype of mature T-lymphocytes/lymphoma

A

CD3+ and CD5+

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7
Q

Major problem with immunophenotyping for diagnosis

A

Many leukemias express mixed phenotypes

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8
Q

AML PML-RARA genotype

A

t(15;17)(q22;q12)

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9
Q

AML RUNX1-RUNX1T1 genotype

A

t(8;21)(q22;q22)

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10
Q

ALL TEL-AML1 genotype

A

t(12;21)(p13;q22)

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11
Q

AML FLT3 genotype

A

Cytogenet (-)

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12
Q

Advantages of genotyping

A
  1. Increased prognostic value
  2. Predicts response to therapy
  3. Identifies molecular targets for therapy development
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13
Q

3 subtyes of AML that can be diagnosed on cytogenetics only

A
  1. t(8;21)(q22;q22); RUNX1-RUNX1T1
  2. inv(16)(p13.1;q22); CBFB-MYH11
  3. t(15;17)(q22;q12); PML-RARA
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14
Q

AML t(15;17)(q22;q12) PML-RARA etiology

A
  1. Dominant negative blockade of normal RARA
  2. Inhibits granulocyte differentiation –> can be blocked with high dose of tretinoin to induce differentiation –> clinical remission
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15
Q

Clinical presentation of t15;17 AML PML-RARA

A

DIC, leukocytosis, severe thrombocytopenia –> prognosis is good is properly diagnosed

Treat with all trans retinoic acid (tretinoin)

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16
Q

Morphology of AML PML-RARA

A
  1. Big blasts, cleaved “bat wing” nuclei
  2. Cytoplasmic granules
  3. Auer rods in stacks
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17
Q

Immunophenotype of AML PML-RARA

A
  1. weak/absent CD34
  2. weak/absent HLA-DR
  3. CD13+
  4. CD33+
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18
Q

AML with Runx1-Runx1T1 etiology

A

Fusion protein of two transcription factors

Dominant negative repressor of myeloid maturation

Runx1 is part of heterodimeric transcription factor Core binding factor (CBF)

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19
Q

Clinical presentation of AML with t8;21 Runx1-Runx1T1

A

Younger patients/kids, symptoms of pancytopenia (fatigue, infection, bleeding)

Prognosis: Good response to chemo

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20
Q

Morphology of AML Runx1-Runx1T1

A

Some maturation to myelocytes

Occassional Auer rods

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21
Q

Immunophenotype of AML Runx1-Runx1T1

A
  1. CD34+
  2. HLA-DR+
  3. CD13+
  4. CD33 weak
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22
Q

AML CBFB-MYH11 etiology

A
  1. Fusion protein of transcription factor with MYH11
  2. Dominant negative repressor of myeloid maturation

CBFB is other part of CBF heterodimer (with Runx1)

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23
Q

Clinical presentation of AML with inv16 or t16;16 CBFB-MYH11

A

Younger patients/kids

Prognosis: Better than most if “risk adapted” therapy is used

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24
Q

Immunophenotype of AML with CBFB-MYH11

A
  1. CD34+, CD117+ (blasts)
  2. CD13+, CD33+ (granulocytes)
  3. CD14+, CD11b+ (monocytes)
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25
Q

Morphology of AML CBFB-MYH11

A

Mixed granulocyte-monocyte features

Increased eosinophils in blood and marrow

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26
Q

AML with normal cytogenetics clinical presentation

A

Any age group (40-50% of AML cases)

Prognosis: Depends on molecular genetics –> targeted sequencing determines treatment

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27
Q

Immunophenotype of AML with normal cytogenetics

A
  1. Blast markers (CD34, CD117)
  2. Typically CD33+
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28
Q

Morphology of AML with normal cytogenetics

A
  1. Undifferentiated
  2. Variably granulocytic
  3. Monocytic/monoblastic
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29
Q

Genes sequenced in AML with normal cytogenetic findings

A
  1. NPM1
  2. FLT3
  3. CEBPA

Sequencing predicts which therapies should be used

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30
Q

AML with complex karyotype clinical presentation

A

AML with 3 or more cytogenetic findings (translocations, monosomies, trisomies) –> usually have deletions or mutations in TP53

Any age group

Prognosis: Poor

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31
Q

Clinical presentation of acute lymphoblastic leukemia

A
  1. 75% of ALL cases occur in kids under 6
  2. Over 80% of acute leukemias in kids are ALL

80% cure rate in kids, 50% in adults

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32
Q

ALL B-cell subtypes that require 25% blasts in bone marrow for diagnosis

A
  1. t(9;22)(q34;q11.2) BCR-ABL1 (bad prognosis)
  2. t(v;11q23); MLL rearranged (bad prognosis)
  3. t(12;21)(p13;q22) TEL-AML1 (ETV6-RUNX1) (good prognosis)
  4. Hyperdiploid (>50 chromosomes) (good prognosis)
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33
Q

ALL with TEL-AML1 (ETV6-RUNX1) etiology

A

Fusion protein that acts as dominant negative effect that blocks maturation

34
Q

Clinical presentation of ALL with 12;21 TEL-AML1 (ETV6-RUNX1)

A

Kids –> 25% of all pediatric B-ALL

Prognosis: Good –> 90% cure rate

35
Q

Morphology of ALL with t12;21 TEL-AML1

A

Big agranular blasts

36
Q

Immunophenotype of ALL t12;21 TEL-AML1

A
  1. Tdt+
  2. CD34+
  3. CD10+
  4. CD20-
37
Q

Etiology of ALL with t9;22 BCR-ABL1

A

Fusion protein of part of serine-threonine kinase (BCR) and tyrosine kinase (ABL1; not the same one seen in CML) –> proliferation activator

IKZF1 transcription factor mutated in 84% –> differentiation inhibitor

(2 Hit theme –> one mutation is proliferation activator, add another, differentiation inhibitor, 2 result in acute leukemia)

38
Q

Clinical presentation of ALL with t9;22 BCR-ABL1

A

Older adults and kids <1

Prognosis: Poor –> two genetic hits in most cases

39
Q

Morphology of ALL with t9;22 BCR-ABL1

A

Big agranular blasts

40
Q

Immunophenotype of ALL with t9;22 BCR-ABL1

A
  1. CD10+
  2. CD19+
  3. TdT+
41
Q

Etiology of ALL with t v;11q23 MLL rearrangement

A

Fusion of histone methyl transferase (transcription regulator) with several partners –> inhibits differentiation

FLT3 found in 20% –> enhaced proliferation

Prognosis: Poor

42
Q

Clinical presentation of ALL with t v;11q23 MLL rearrangement

A

Most common leukemia in kids <1

Prognosis: poor

43
Q

Morphology of ALL with t v;11q23 MLL rearrangement

A

Big agranular blasts

44
Q

Immunophenotype of of ALL with t v;11q23 MLL rearrangement

A
  1. CD10- (distinguishes form BCR-ABL1)
  2. CD19+
  3. TdT+
45
Q

Etiology of T-cell ALL

A

Most have translocation of oncogene to T-cell receptor promoter –> multiple partners possible

Example: t(14q11;10q24)

46
Q

Clinical presentation of T-cell ALL

A

Kids –> often with thymic mass or lymph node, spleen involvement

47
Q

Morphology of T-cell ALL

A

Big agranular blasts

48
Q

Immunophenotype of T-cell ALL

A
  1. TdT+
  2. CD3+
  3. CD5+

CD3 and CD5 are unique to T-cells

49
Q

Peripheral smear appearance during infection (to rule out malignancy)

A

Toxic granulation and a “left shift” composed of progressively fewer cells representing the more immature precursors

–> If patient has no toxic granulation and more myelocytes than metamyelocytes –> myeloproliferative neoplasm

50
Q

Diagnostic techniques for CML

A

Old: Bone marrow aspirate –> hypercellularity, no increase in blasts

New: RT-PCR for BCR-ABL fusion

Still need bone marrow aspirate because pt can progress to accelerated form that is like acute leukemia –> lots of blasts

51
Q

Etiology of polycythemia vera

A

Activating Jak2 kinase mutation (mimics presence of Epo) in >95% –> results in increased RBC count

Some have mutations in Epo receptor

52
Q

Clinical presentation of polycythemia vera

A
  1. Thrombosis
  2. Hypertension
  3. Stroke or MI

Increased RBCs due to lung disease

53
Q

Morphology of polycythemia vera

A
  1. Hypercellular marrow
  2. Erythroid hyperplasia
  3. Increased megakaryocytes
54
Q

Pathophysiology of polycythemia vera

A

Constitutively active Jak2 kinase –> increased megakaryocytes and erythroid precursors

Normally myeloid precursors outnumber erythroid precursors 2:1

55
Q

Etiology of essential **thrombocythemia **

A

Jak2 kinase mutations in 50%

Mutation in calreticulin in 25%

56
Q

Clinical presentation of essential **Thrombocythemia **

A
  1. Thrombosis
  2. Increased platelets due to iron deficiency, infection, and chronic inflammation

Prognosis: > 10 yr survival is common; can progress to myelofibrosis, MDS, acute leukemia

57
Q

Morphology fo essential thrombocytopenia

A

Increased megakaryocytes –> large and weird looking, in clusters

58
Q

Etiology of primary myelofibrosis

A

Jak2 kinase mutation in 50% of cases

59
Q

Morphology of primary myelofibrosis

A

Large, strange looking megakaryocytes –> early PM

Reticulin stain will show more reticular fibers than megs in ET

Late PM shows fibrosis in marrow

60
Q

Clinical presentation of primary myelofibrosis

A
  1. Thrombosis
  2. Thrombocytosis and/or leukoerythroblastic picture

Prognosis: Usually shorter survival than ET; can prgoress to marrow failure of acute leukemia

61
Q

Clinical presentation of mastocytosis

A

Usually present as benign cutaneous lesions in kids

If they spread beyond skin –> systemic symptoms (flushing, abdominal pain, tachycardia, hypotension) –> typically involves bone marrow

Check serum tryptase levels –> major mediator secreted by mast cells

Prognosis: Highly variable

62
Q

Etiology of mastocytosis

A

Either cKit mutants or PDGFRA activation (FIP1 translocation)

63
Q

Morphology of mastocytosis

A
  1. Aggregates of bland looking cells
  2. Round or spindle shaped
  3. Sometimes with esoinophilia
64
Q

Immunophenotype of mastocytosis

A
  1. Tryptase
  2. CD117+ (C-KIT the SCF receptor)
  3. CD25+
65
Q

Myelodysplasias clinical and diagnostic features

A
  1. Unexplained cytopenia, bicytopenia, or pancytopenia
  2. Abnormal “dyspoietic” bone marrow morphologies
  3. Abnormal “dyspoietic” immunophenotypes of maturing precursors
  4. Abnormal cytogenetics
  5. Increased morphologic blasts (>5%, <20%)
66
Q

5 major adult forms of myelodysplasia

A
  1. Refractory cytopenia with unilineage dysplasia
  2. Refractory anemia with ring sideroblast
  3. Myelodysplastic syndrome with isolated del(5q)
  4. Refractory cytopenia with multilineage dysplasia
  5. Refrctory anemia with excess blasts

Best to worst prognosis –> if unclassifiable called myelodysplastic syndrome, unclassifiable (brilliant name)

67
Q

Clinical presentation of refractory cytopenia with unilineage dysplasia

A

Unexplained cytopenia, usually elderly patients >65

Diagnosis depends on morphological features

Prognosis: Good, rarely progresses to AML

68
Q

Morphology of refractory cytopenia with unilineage dysplasia

A
  1. Weird looking precursors
  2. Binucleation or irregular nuclei
  3. Can show fibrosis, high or low cellularity, megaloblastoid features
69
Q

Immunopheontype of refractory cytopenia with unilineage dysplasia

A

Can show abnormal acquisition of surface markers

70
Q

Clinical presentation of refractory anemia with ring siderblasts

A
  1. Unexplained cytopenia(s)
  2. Usually elderly patients (>65 years old)
71
Q

Morphology of refractory anemia with ring sideroblasts

A

Ring sideroblasts with dyspoietic features

72
Q

Immunophenotype of refractory anemia with ring siderblasts

A

Can show abnormal acquisition of surface markers

73
Q

Clinical presentation of MDS with isolated del5q

A
  1. Anemia, often severe
  2. Usually elderly patients >65
  3. More often women

Cytogenetics shows ONLY loss of large arm of chromosome 5

Prognosis: Good median survival; treatable with lenalidomide; 10% progress to AML

74
Q

Morphology of MDS with isolated del5q

A

All megakaryocytes are mononuclear

75
Q

Clinical presentation of refractory cytopenia with multilineage dysplasia

A
  1. Anemia, often severe
  2. Usually elderly patients >65
  3. More often women

Prognosis: Median survival 30 months; 10% progress to AML in 2 years

76
Q

Morphology of refractory cytopenia with multilineage dysplasia

A
  1. Granulocytes (if affected) don’t granulate normally
  2. Nuclei don’t lobulate normally
77
Q

Immunopheontype of refractory cytopenia with multilineage dysplasia

A

Can show abnormal acquisition of surface markers

78
Q

Clinical presentation of refractory anemia with excess blasts

A
  1. Cytopenias
  2. Usually elderly patients >65

5-9% morphologic blasts (RAEB-1)

10-19% morphologic blasts (RAEB-2)

Prognosis: RAEB-1 –> 25% progress to AML

RAEB-2 –>33% progress to AML

79
Q

Morphology of refractory anemia with excess blasts

A

Blasts and dysplastic maturation

80
Q

Activating translocation in CEL

A

FIP1L1-PDGFRA

81
Q

Activating mutation in ET and p. vera

A

Jak-2 V617F

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