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Organ Systems- Heme > Week 2 > Flashcards

Week 2 Flashcards

1
Q

Pancytopenia

A

loss of all cell types, anemia, thrombocytopenia, leukopenia

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2
Q

What is a “leuko-erythroblastic picture”?

A

bone marrow cells seen on peripheral blood smear

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3
Q

What findings suggest bone marrow pathology?

A

nucleated red cells, basophilic stippling, Howell-Jolly bodies, giant platelets, myelocyte, blasts

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4
Q

What 3 things will be obtained in a bone marrow biopsy and why?

A
  1. Aspirate (.5 cc) for morphologic studies
  2. Additional aspirate for special studies (5-20cc)
  3. Core biopsy for histological studies
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5
Q

What sample from the bone marrow biopsy will be hemodilute?

A

aspirate for special studies

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6
Q

Blasts should make up less than ____% of cell in bone marrow.

A

5

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7
Q

Myeloid cells should outnumber erythroid cells by what ratio?

A

2:1 to 5:1

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8
Q

How is the cellularity of bone marrow biopsies estimated?

A

100%-age; the rest is fat

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9
Q

___ is the best way to gauge a pt’s iron stores.

A

looking directly at bone marrow

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10
Q

B cell antigens

A

CD45, CD79a, CD 20, CD 10, kappa and lambda light chain

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11
Q

T cell antigens

A

CD45, CD4, 7, 8

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12
Q

The most reliable means of counting particular cell types is ____.

A

flow cytommetry

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13
Q

The aspirate used in flow cytometry is usually ____. What is done about this?

A

hemodilute; red lysis procedure will lyse erythroid precursors

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14
Q

___ scatter in flow cytometry is proportional to cell size.

A

foward

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15
Q

___ scatter in flow cytometry is indicative of granules or segmented nuclei.

A

side

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16
Q

What are the 2 methods of immunophenotyping?

A

flow cytometry and immunohistochemistry

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17
Q

CD34 is a marker of what?

A

hematopoietic stem cells

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18
Q

CD33 is a marker of what?

A

granulocytes

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19
Q

Routine cytogenetic studies identify and number the chromosomes present in _____ cells.

A

dividing (metaphase)

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20
Q

Routine cytogenetics can identify a philedelphia chromosome. This is indicative of what disease?

A

Chromosome 22: Chronic myelogenous leukemia

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21
Q

What are the methods of identifying abnormal genotypes?

A

routine cytogenitics, FISH, PCR, complete genome sequencing

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22
Q

Describe the philedelphia chromosome and who identified it

A

translocation between 9 and 22. Janet Rowley

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23
Q

FISH visualizes cells in what phase?

A

interphase

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24
Q

What mutations are needed in AML?

A

Class 1: proliferation advantage

Class 2: impaired differentiation/apoptosis

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25
Q

When using PCR to assess an AML pt with normal cytogenetic findings, what 2 samples are used?

A

leukemia cells, skin biopsy

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26
Q

Why is complete genome sequencing unlikely to be a routine clinical procedure?

A

most mutations are likely irrelevant, epigenetic changes could play a role

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27
Q

What type of malignancies arise from mutations in HSC?

A
  1. acute leukemia
  2. myeloproliferative disorder
  3. Myelodysplastic syndrome (MDS)
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28
Q

What HSC malignancy has rapidly proliferative clones, lots of blasts in BM and often blood stream?

A

acute leukemia

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29
Q

What HSC malignancy has chronically proliferating clones which differentiate to circulating cells (normal but high numbers)

A

myeloproliferative disorder

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30
Q

What HSC malignancy has poorly functioning clones (normal number)?

A

myelodysplastic disorder

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31
Q

What is acute myeloid leukemia?

A

rapidly proliferating clones; blasts in marrow and often blood stream in the myeloid, erythroid, and meg lineages

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32
Q

What is acute lymphoid leukemia?

A

malignancy with rapidly proliferating clones; blasts in bone marrow and often blood stream of lymphocyte lineage

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33
Q

What type of acute leukemia appears to be derived from stem cells which have not committed to a lineage?

A

acute undifferentiated leukemia

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34
Q

What are the 3 clinical presentations of acute leukemias?

A
  1. many blasts in blood and marrow
  2. few blasts in blood, many in marrow
  3. blasts outside marrow such as myeloid sarcoma or lymphoblastic lymphoma
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35
Q

A marrow blast number of ____ usually implies acute leukemia.

A

greater than 20%

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36
Q

What are the advantages of genotype diagnostic criteria?

A

increased prognostic value, predicts response to therapy, identifies moelcular targets for therapy development

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37
Q

What 4 things may be used to diagnose?

A

blast count, blast mophoplogy, imuunophenotype, genotype

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38
Q

A mutation in Jak2 is what type of mutation?

A

Class 1

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39
Q

How are the Class 1 and 2 mutations needed for AML identified?

A

cytogenetic analysis, genomic sequencing

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40
Q

Describe the genetics of AML with t(8:21); Runx1-Runx1T1

A

fusion protein of 2 transcription factor, 5% of AML; dominant negative repressor of myeloid maturation (class 2 mutant). Requires Class 1 mutation concurrently.

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41
Q

how is t(8:21) Runx1-runx1t1 identified?

A

cytogenetics

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42
Q

Clinical presentation of pt with AML with t(8:21); Runx1-Runx1T1

A

younger pt/kids

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43
Q

Morphology of AML with t(8:21); Runx1-Runx1T1

A

some maturation to myelocytes, occasional crystallization of granule contents (Auer rods)

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44
Q

Immunophenotype of AML with t(8:21); Runx1-Runx1T1

A

CD34+, HLA-DR+, CD13+, CD33 weak

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45
Q

What is the prognosis of AML with t(8:21); Runx1-Runx1T1

A

good response to chemo

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46
Q

Describe the genetics of AML with t (15:17) PML-RARA

A

fusion of PML (transcription factor) with RARA (transcription factor) occurs in 5-8% of AML cases. This results in Class 2 dominant negative blockade of differentiation.

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47
Q

Clinical presentation of AML with t (15:17) PML-RARA

A

DIC, severe thrombocytopenia

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48
Q

Morphology of AML with t (15:17) PML-RARA

A

big blasts, cleaved “bat wing” nuclei, many granules, auer rods in stacks

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49
Q

immunophenotype of AML with t (15:17) PML-RARA

A

weak/absent CD34, HLA-DR+, CD13+, CD33+

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50
Q

Prognosis and Rx of AML with t (15:17) PML-RARA

A

Good if diagnosis is made: ATRA is an RA analogue that blocks PML-RARA. It induces differentiation of blasts to granulocytes –> clinical remission

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51
Q

HOw is AML with t (15:17) PML-RARA identified?

A

cytogenetics

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52
Q

Auer rods are diagnostic of ____.

A

AML

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53
Q

Describe the genetics of AML with inv(16); CBFB-MYH11

A

Class 2 dominant negative repressor of myeloid maturaion

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54
Q

How is the mutation of AML with inv(16); CBFB-MYH11 identified?

A

cytogenetics

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55
Q

Clinical presentation of AML with inv(16); CBFB-MYH11

A

younger pt/kids

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56
Q

Morphology of AML with inv(16); CBFB-MYH11

A

mixed granulocyte-monocyte features (myelomonocytic). Increased eosinophilia in blood and marrow

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57
Q

Immunophenotype of AML with inv(16); CBFB-MYH11

A

CD34+, CD117+, CD13+, CD33+, CD14+, CD11b+

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58
Q

What markers are found on monocytes?

A

CD14+ and CD11b+

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59
Q

What markers are found on granulocytes?

A

CD33+, CD13_

60
Q

Prognosis of AML with inv(16); CBFB-MYH11

A

variably poor; optimal with high dose of cytarabine

61
Q

____% of AML has normal cytogenetics.

A

40-50

62
Q

Clinical presentation of aml with normal cytogenetics

A

any age group

63
Q

morphology of aml with normal cytogenetics

A

undifferentiated, variably granulocytic, monocytic/monoblastic

64
Q

Immunophenotype of aml with normal cytogenetics

A

Blast markers (CD34,117+), any lineage markers

65
Q

Prognosis of aml with normal cytogenetics

A

depends on molecular genetics

66
Q

What mutated transcription factors are characteristic of ALL?

A

IKZF1(KAROS) and PAX5

67
Q

What markers are found on stem cell in the B cell lineage?

A

CD34;Tdt

68
Q

What markers are found in lymphoid precurors and Pre-B cell

A

CD19 and 10

69
Q

What markers are found on pre B cell

A

CD20

70
Q

What mutations are found in ALL?

A 
t(9:22) BCR-ABL1
t(?) MLL rearranged
t(12:21) Tel-AML1
Hyperdiploid
Hypodiploid
71
Q

Describe the genetics of ALL with t(9;22)BCR-ABL1

A

fusion protein of BCR to tyrosine kinase (ABL). Proliferative activator, class 1 mutation. IKFZ1 is mutated in most cases. This is a differentiation inhibitor (class 2)

72
Q

Clinical presentation of ALL with t(9;22)BCR-ABL1

A

25% of ALL in older adults, 2-4% of ALL in kids

73
Q

morphology of ALL with t(9;22) BCR-ABL1

A

big agranular blasts

74
Q

immunophenotype of ALL with t(9;22) BCR-ABL1

A

Tdt+. CD10+, CD19+

75
Q

Prognosis of ALL with t(9;22)BCR-ABL1

A

poor

76
Q

Describe the genetics of ALL with MLL rearrangement

A

fusion of a transcription regulator to any of several partners. This inhibits differentation so it is a Class 2 mutation. FLT3 is also class 2 and is mutation 20% of time.

77
Q

Clinical presentation of ALL with MLL rearrangement

A

most common leukemia in kids under one.

78
Q

morophology of ALL with MLL rearrangement

A

big agranular blasts

79
Q

Immunophenotype of ALL with MLL rearrangement

A

CD10- CD19+ Tdt+

80
Q

Prognosis of ALL with MLL rearrangement

A

poor

81
Q

Describe the genetics of ALL with t(12:21) TEL-AML1

A

fusion protein that acts as a dominant negative transcription factor inhibits differentiation (Class 2). Some show Pax5 deletion.

82
Q

Clinical presentation of ALL with t(12:21) TEL-AML1

A

25% of pediatric B-ALL

83
Q

Morphology of ALL with t(12:21) TEL-AML1

A

big agranular blasts

84
Q

immunophenotype of ALL with t(12:21) TEL-AML1

A

Tdt+, CD34+, CD20-

85
Q

Prognosis of ALL with t(12:21) TEL-AML1

A

good

86
Q

Describe the genetics of T-ALL

A

most have a translocation of an oncogene to a TCR promoter. there are 3 possible TCR loci and multiple partners.

87
Q

Clinical presentation of T-ALL

A

kids. 25% often with thymic mass of lymph node, spleen involvement

88
Q

Morphology of T-ALL

A

big agranular blasts

89
Q

Immunophenotype T-ALL

A

Tdt+, CD3+, CD5+

90
Q

Prognosis of T-ALL

A

high risk

91
Q

___ is a myeloproliferative disease with high WBC where all stages of granulocyte maturation end up in blood.

A

CML

92
Q

What are all the types of myeloproliferative disease stemming from the myeloid lineage?

A

CML, CMML, rarer forms: chronic eosinophilic leukemia (CEL)/ PDGFR neoplasm, chronic neutrophilic leukemia, mastocytosis

93
Q

What myeloproliferative disease stems from erythroid lineage?

A

polycythemia vera

94
Q

What myeloproliferative disorder stems from meg lineage?

A

essential thrombocytopenia or primary myelofibrosis

95
Q

What about a blood smear supports infections etiology rather than neoplastic?

A

toxic granulation and a left shift composed of progressively fewer cells representing the more immature precursors

96
Q

What about a peripheral smear supports a myeloproliferative neoplasm?

A

no evidence of toxic granulation, more myelocytes than metamyelocytes (myeloid bulge)

97
Q

What do you look for in bone marrow biopsy that may indicate CML?

A

increase cellularity, decrease erythroid precursors compared to granulocytes

98
Q

Describe the process of diagnosing CML

A

CBC+ manual differentiation–> suspect CML–> PCR–> bone marrow biopsy

99
Q

What happens if CML is left untreated?

A

can progress to acute leukemia

100
Q

___% of the time, pt with CML will have normal cytogenetics.

A

10

101
Q

___ plays a big role in the growth and migration of mast cells.

A

SCF

102
Q

What symptoms are associated with mastocytosis? What test should be ordered?

A

flushing, abdominal pain, tachycardia, hypotension, serum tryptase

103
Q

Neoplasms of mast cells are usually present as _____

A

benign cutaneous lesions in kids

104
Q

Bone marrow findings for mastocytosis

A

bland looking cells, round or spindle shaped. sometimes with eosinophilia

105
Q

Genetics of mastocytosis

A

either cKIT mutants or PDGFRA activation

106
Q

___% or mastocytosis is assocatiated with a second hematologic malignancy.

A

30

107
Q

Immunophenotype of mastocytosis

A

tryptase, CD117 (cKIT is the SCF receptor), CD25

108
Q

Polycythemia vera genetics

A

Jak2 mutation in 95% of cases

109
Q

Polycythemia vera clinical presentation

A

thrombosis, hypertension, stroke, MI, increased RBC may also be due to lung disease

110
Q

Polycythemia vera morphology

A

hypercellular marrow, erythroid hyperplasia, increased Megs

111
Q

Polycythemia vera prognosis

A

10 year survival common, can progress to myelofibrosis, MDS, acute leukemia

112
Q

____ has increased RBCs with hypertension and thrombosis.

A

Polycythemia vera

113
Q

Essential thrombocytopenia genetics

A

Jak2 in 50% of cases

114
Q

Essential thrombocytopenia clinical presentation

A

thombosis, increased platelets can be due to iron deficiency, infection, chronic inflammation

115
Q

Essential thrombocytopenia morphology

A

increased megs (large and weird looking)

116
Q

prognosis Essential thrombocytopenia

A

10 year survival common, can progress to myelofibrosis, MDS, acute leukemia

117
Q

Primary myelofibrosis genetics

A

Jack 2 in 50% of cases

118
Q

Primary myelofibrosis clinical presentation

A

thrombosis, thrombocytopenia and/or leukoerythroblastic picture

119
Q

Primary myelofibrosis morphology

A

increased megs, bizarre shape/clustering

120
Q

Primary myelofibrosis prognosis

A

usually shorter than ET, can progress to marrow failure acute leukemia

121
Q

Myelodysplasias usually present in ____.

A

elderly patients

122
Q

What are the 5 adult forms of myelodysplasia from best to worst?

A

refractory cytopenia with unilineage dysplasia, refractory anemia with ring sideroblasts, myelodysplastic syndrome with isolated del, regractory cytopenia with multilineage dysplasia, refractory anemia with excess blasts

123
Q

refractory cytopenia with unilineage dysplasia clinical presentation

A

unexplained cytopenia in elderly patients

124
Q

refractory cytopenia with unilineage dysplasia morphology

A

weird precursors, binucleation or irregular nuclei, can show fibrosis, high or low cellularity, megaloblastoid features

125
Q

refractory cytopenia with unilineage dysplasia prognosis

A

survival not clearly less than normal for age

126
Q

refractory anemia with ring sideroblasts clinical presentation

A

unexplained cytopenia in elderly patients

127
Q

refractory anemia with ring sideroblasts morphology

A

ring sideroblasts with dyspoietic features in red cell series only

128
Q

refractory anemia with ring sideroblasts prognosis and diagnosis

A

Prog: survival not clearly less than normal. Dia: morphologic findings and iron stain

129
Q

MDS is isolated del(5q) clinical presentation

A

severe anemia in elderly women

130
Q

MDS is isolated del(5q) morphology

A

all megs are mononuclear

131
Q

MDS is isolated del(5q) prognosis

A

good median survival, treatable with lenalidomide, 10% progress to AML

132
Q

Refractory cytopenia with mutlilineage dysplasia clinical presentation

A

severe anemia in elderly women

133
Q

Refractory cytopenia with mutlilineage dysplasia morphology

A

granulocytes dont granulate normally, nuclei dont lobulate normally

134
Q

Refractory cytopenia with mutlilineage dysplasia prognosis

A

median survival is 30 months, 10% progress to AML

135
Q

refractory anemia with excess blasts clinical presentation

A

cytopenias in elderly patients

136
Q

refractory anemia with excess blasts morphology

A

blasts and dyspoietic maturation

137
Q

refractory anemia with excess blasts immunophenotype

A

CD34+ and CD117+ population

138
Q

refractory anemia with excess blasts types and prognosis

A

RAEB-1: 5-9% blasts, 1/4 go to AML

RAEB-2: 10-19% blasts, 1/3 to to AML

139
Q

Symptoms of bone marrow failure

A

anemia, neutropenia, thrombocytopenia

140
Q

___ most common cancer in children

A

ALL

141
Q

What acute leukemia is a disease of adults and elderly?

A

AML

142
Q

What is the difference between primary and secondary AML?

A

primary: de novo, easier to treat
secondary: from MDS, harder to treat

143
Q

Treatment of AML

A
  1. remission induction therapy
  2. post remission therapy
  3. maintenance therapy/ bone marrow transplane
144
Q

Strategies for treatment of AML in older adults

A

supportive care, chemo, new noncytotoxic agents (Azacitidine), reduced intensity conditioning

145
Q

What genetic abnormalites of ALL are associated with poor outcome?

A

MLL, BCR-ABL1

146
Q

What genetic abnormalities of ALL are associated with good outcome

A

hyperdiploidy, E2A-PBX, TEL-AML

147
Q

Treatment of ALL

A

3 treatment phases, allopurinol, CNS prophylaxis

Organ Systems- Heme (5 decks)

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