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HML II > Leukemia and WBC diseases > Flashcards

Leukemia and WBC diseases Flashcards

1
Q

General causes of neutropenia

A

Reduced marrow production
Increased destruction
Peripheral pooling

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2
Q

Hereditary causes of neutropenia due to reduced marrow production

A

Kostmann syndrome
Wiskott-Aldrich syndrome
Cyclic neutropenia

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3
Q

Mutation in Kostmann syndrome

A

Mutation in anti-apoptosis HAX-1 gene

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4
Q

Mutation in Wiskott-Aldrich syndrome

A

WAS gene

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5
Q

Mutation in cyclic neutropenia

A

Neutrophil elastase

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6
Q

Causes of ineffective granulopoiesis

A

Vit B12 deficiency
Folate deficiency
MDS

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7
Q

Acquired causes of marrow suppression in neutropenia

A

Chemotherapy
Aplastic anemia
Infections

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8
Q

Lymphopenia cut-off in children under 6

A

<2000

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9
Q

Congenital cause of lymphopenia

A

DiGeorge syndrome

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10
Q

Lymphopenia caused by Cushing Syndrome

A

cortisol excess leads to redistribution of lymphocytes

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11
Q

Iatrogenic causes of neutrophilic leukocytosis

A

G-CSF
GM-CSF
Corticosteroids

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12
Q

General causes of neutrophilic leukocytosis

A

Acute inflammation
Iatrogenic
Myeloproliferative disorders
Miscellaneous neoplasms
Asplenia

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13
Q

Toxic granulation of neutrophils

A

Reactive change associated with acute inflammation

Dark, coarse granules in cytoplasm

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14
Q

Dohle bodies in neutrophils

A

Reactive change associated with acute inflammation

Bluish cytoplasmic inclusions due to dilated ER

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15
Q

General causes of eosinophilia

A

Allergy
Parasitic infections
Neoplasms
HES
Pulmonary eosinophilia

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16
Q

Neoplasms associated with eosinophilia

A

Hodgkin’s lymphoma
Chronic myeloproliferative neoplasms

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17
Q

Pulmonary syndromes associated with eosinophilia

A

Loeffler’s syndrome
Eosinophilic granulomatosis with polyangitis/EGPA/Churg-Strauss

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18
Q

General causes of basophilia

A

Allergic reactions - hyperacute sensitivity
CML

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19
Q

General causes of lymphocytosis

A

Infection, acute and chronic
Parasite - toxoplasmosis
Neoplasm

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20
Q

Neoplasms associated with lymphocytosis

A

CLL
NHL

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21
Q

General causes of monocytosis

A

Chronic bacterial infections
Protozoa - malaria
Neoplasms

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22
Q

Neoplasms associated with monocytosis

A

Chronic myelomonocytic leukemia (CMML)
AML subtypes

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23
Q

Examples of chronic bacterial infections

A

TB
Brucellosis
Infectious endocarditis
Typhoid

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24
Q

Definition of leukemoid reactions

A

Increase in WBC count that mimics leukemia, but is caused by infection or another disease

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25
Q

2 general types of leukemoid reaction

A

Myeloid
Lymphoid type

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26
Q

General causes of myeloid type leukemoid reaction

A

Bacterial infections
Severe hemorrhage
Acute hemolysis
Post op/trauma stress
Splenectomy

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27
Q

Characteristics of neutrophils in myeloid type leukemoid reaction

A

Toxic granules
Cytoplasmic vacuolations
Dohle bodies

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28
Q

LAP in CML

A

Markedly reduced

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29
Q

LAP in leukemoid reactions

A

High

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30
Q

Characteristic of draining lymph nodes and related infection

A

Increased neutrophils - bacterial
Lymphoid cell proliferation - viral
Increased plasma cells - immune reaction

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31
Q

Definition of leukemia

A

Neoplasm of blood forming cells, primarily affecting bone marrow

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32
Q

Clinical presentation of acute leukemia

A

Short history
Signs of bone marrow failure
Organ involvement
Variable leukocytosis and cytopenias

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33
Q

Clinical presentation of chronic leukemia

A

Slow progressive history or incidental finding
Organ involvement
Leukocytosis
Marrow infiltration by mature cell types

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34
Q

Main cell type implicated in ALL

A

Lymphoblasts

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35
Q

Main cell types implicated in AML

A

Myeloblasts

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36
Q

Main cell types implicated in CML

A

Platelets
Basophils
Neutrophils
Eosinophils
Monocytes

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37
Q

Main cell type implicated in CLL

A

B lymphocytes

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38
Q

Method of finding chromosomal abnormalities

A

Karyotyping

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39
Q

Methods of finding molecular abnormalities

A

FISH
PCR
Sequencing

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40
Q

Auer rods are seen in this cell and disease

A

Myeloblasts in AML

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41
Q

General symptoms of acute leukemias

A

Fatigue
Weight loss
Anorexia
Fever

42
Q

Symptoms related to bone marrow failure

A

Anemia and pallor
Leukopenia with infections and fever
Thrombocytopenia with bruising, bleeding gums, and meonorrhagia

43
Q

Meningeal signs of organ infiltration

A

Headache
Blurred vision
Others

44
Q

Rare manifestation of acute leukemia

A

Extramedullary masses –> myeloid sarcomas/chloromas

45
Q

Clinical manifestations of acute leukemias

A

Bleeding - petechiae and purpura
Lymphadenopathy
Hepatosplenomegaly
Infections
Mediastinal mass

46
Q

Acute leukemia most common between 3-11 yo

A

B-cell ALL

47
Q

Acute leukemia most common in adolescence

A

T-cell ALL

48
Q

Acute leukemia associated with mediastinal mass

A

T-cell ALL

49
Q

Possible effects of mediastianal/thymus mass

A

Respiratory distress
SVC syndrome

50
Q

Symptoms of SVC syndrome

A

Face/neck swelling
Distended neck veins
Cough
Dyspnea

51
Q

MPO negative and possibly PAS positive

A

Blast cells

52
Q

Immature B and T cells all show what marker

53
Q

B-ALL blasts commonly express what markers

A

HLA-DR
CD-19
CD-10
CD79a
Less often: CD22 or IgM heavy chain

54
Q

T-ALL blasts commonly express what markers

A

CD3
CD1
CD2
CD5
CD7

55
Q

What is marker of T cell immaturity?

A

Double negative: CD4- and CD8-

Double positive: CD4+ and CD8+

56
Q

Leads to dysregulation of TFs required for normal B/T cell differentiation

A

Cytogenetic alterations

57
Q

Translocations related to B cell ALL

A

t(12;21)
t(9;22)
t(11q23;variable)

58
Q

t(12;21) in B cell ALL

A

Involves ETV6;RUNX1
Favorable prognosis

59
Q

t(9;22) in B cell ALL

A

BCR;ABL
Poor prognosis

60
Q

t(11q23;variable) in B cell ALL

A

MLL gene rearrangement
Poor prognosis
Infant leukemia

61
Q

Hyperdiploidy in B cell ALL prognosis

A

Good prognosis

62
Q

Hypodiploidy in B cell ALL prognosis

A

Poor prognosis

63
Q

Mutation associated with T cell ALL

A

Gain of function mutation in NOTCH1 that activates NOTCH signaling pathway

64
Q

Inherited conditions related to AML

A

Trisomy 21
Bloom syndrome
Fanconi anemia
Ataxia telangiectasia
Wiscott-Aldrich syndrome

65
Q

Drugs associated with developing AML

A

Alkylating agents, particularly when combined with radiotherapy

Etoposide

66
Q

Manifestations typically seen in monocytic/myelomonocytic leukemia

A

Gum hypertrophy
Skin involvement
CNS involvement
Bleeding

67
Q

Manifestation associated with promyelocytic leukemia

68
Q

Diagnosis of AML based on blasts

A

20% or more myeloid blasts in bone marrow or blood

69
Q

MPO positive and PAS negative staining

A

Myeloblasts

70
Q

Immunological markers of AML blasts

A

CD34
CD13
CD33
CD117
MPO

71
Q

Immunological markers associated with monocytic AML

A

CD14
CD11c
CD64

72
Q

Immunological markers associated with erythroid AML

A

Glycophorin/CD235

73
Q

Immunological markers associated with megakaryocytic AML

A

CD41
CD42
CD61

74
Q

Translocations associated with AML

A

t(8;21)
inv16 or t(16;16)
t(15;17)

75
Q

AML sub-type associated with t(15;17)

A

Acute promyelocytic leukemia

76
Q

Gene associated with acute promyelocytic leukemia

A

t(15;17) or PML-RARalpha fusion gene

77
Q

DIC and peripheral consumption may be seen in what

A

Acute promyelocytic leukemia

78
Q

Responds to ATRA therapy

A

Acute promyelocytic leukemia

79
Q

Mechanism of ATRA therapy in acute promyelocytic leukemia

A

Binds PML-RARalpha fusion protein and antagonizes its inhbitory effect

80
Q

Mechanism of PML-RARalpha fusion protein

A

Inhibition of granulocytic maturation and uncontrolled proliferation

81
Q

Morphologic characteristics associated with acute promyelocytic leukemia

A

Promyelocytes in blood and bone marrow
Bilobed nuclei
Hyper-angular with many Auer rods

82
Q

AML with monocytic differentiation

A

Blasts and promonocytes have folded or lobulated nuclei with abundant cytoplasm

83
Q

Cytochemistry of AML with monocytic differentiation

A

NSE positive

84
Q

Clinical presentation of AML with monocytic differentiation

A

Generally characterized by tissue infiltration
Leukemia cutis (skin)
Gingival hypertrophy
CNS

85
Q

Chronic lymphocytic leukemia (CLL)

A

Neoplastic lymphocytes in the marrow and peripheral blood predominantly

86
Q

Small lymphocytic leukemia (SLL)

A

Neoplastic lymphocytes in lymph nodes predominantly

87
Q

Clinical manifestations of CLL and SLL

A

Asymptomatic
Generalized lymphadenopathy
Hepatosplenomegaly
Infections
Anemia

88
Q

Blood count findings in CLL

A

Leukocytosis with absolute lymphocytosis

89
Q

Smudge cells on peripheral smear

90
Q

Immunophenotype in CLL

A

CD19+
CD5+
CD23+
Dim expression of monoclonal light chain

91
Q

Cytogenetics associated with CLL

A

Deletions of 13q
Trisomy 21

92
Q

Leukemia that can be associated with autoimmune hemolytic anemia, immune thrombocytopenia, and hypogammaglobulinemia

93
Q

Lymph node in SLL

A

Diffuse effacement
Replaced primarily by small lymphocytes with round nuclei, condensed chromatin, and scant cytoplasm

94
Q

Possible outcome of CLL/SLL

A

Transform into high-grade lymphoma (DLBCL)

Richter syndrome - aggressive lymphoma

95
Q

Clinical presentation in hairy cell leukemia

A

Splenomegaly
Frequent infections with atypical mycobacteria

96
Q

TRAP positive tumor cells

A

Hairy cell leukemia

97
Q

Pancytopenia resulting from marrow involvement and splenic sequestration with unexplained monocytopenia

A

Hairy cell leukemia

98
Q

Immunophenotype of hairy cell leukemia

A

Pan B cell markers - CD19 and CD20

CD103

99
Q

Dry tap during marrow aspiration cause and condition

A

Tumor cells induce ECM production with increased reticulin fibers in bone marrow

Hairy cell leukemia

100
Q

Pathogenesis of hairy cell leukemia

A

Activating point mutations in BRAF

HML II (15 decks)

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