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Step 1 Review > Hem/ Onc Pathology High Yield > Flashcards

Hem/ Onc Pathology High Yield Flashcards

1
Q

Acanthocyte/ “spur cells” are seen in…

A

abetalipoproteinemia and liver disease

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2
Q

Basophilic stippling of RBCs are seen in…

A

Lead poisoning

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3
Q

What causes ringed sideroblasts?

A

excess Fe in mitochondira (sideroblastic anemia)

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4
Q

What can induce cycling?

A

dehydration, deoxygenation, high altitudes

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5
Q

When are dacrocyte (tear drop cells) seen?

A

bone marrow infiltration

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6
Q

What are the 4 pathologies associated with target cells?

A

HbC disease
Asplenia
Liver disease
Thalassemia

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7
Q

What causes heinz bodies?

A

Oxidation of Hb SH gropus to S—S

Leads to Hb precipitation

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8
Q

What pathology is associated with heinz bodies?

A

G6pD deficiency

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9
Q

What pathology is associated with heinz bodies?

A

G6pD deficiency

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10
Q

How can you differentiate between hemolytic normocytic anemia and non hemolytic normocytic anemia?

A

reticulocyte count

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11
Q

Transporter for Fe in the small intestine?

A

DMT1 transporter

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12
Q

Fe storage protein?

A

ferritin

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13
Q

“Fe deficiency anemia, esophageal webs, atrophic glossitis”

A

Plummer Vinson Syndrome

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14
Q

Is alpha thalassemia a mutation or a deletion?

A

It is a deletion of alpha globin genes

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15
Q

HbH disease?

A

2 allele deletion of alpha globin gene…leading to very little alpha globin and beta chain tetromers (HbH)

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16
Q

Is beta thalassemia a mutation or a deletion?

A

It is a mutation in splice site and romotor sequences

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17
Q

Difference in presentation beta thalassemia major and minor?

A

Minor: usually asymptomatic, increased HbA2

Major: Beta chain is absent, severe, extramedulary hematopoesis

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18
Q

What are the 2 enzymes affected by lead poisoning?

A

ALA dehydrastase and ferrochetalase

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19
Q

Treatment for lead poisoning?

A

Dimercaprol, EDTA, succimer

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20
Q

What enzyme is deficiency in sideroblastic anemia? Inheritance pattern?

A

ALA synthase

X linked

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21
Q

What cofactor does ALA synthase require?

A

Pyridoxine (B6)

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22
Q

Ferretin and TIBC levels in sideroblastic anemia?

A

decreased TIBC and increased ferritin

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23
Q

What type of anemia is homocysteine AND methylamalonic acid increased in?

A

B12 deficiency

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24
Q

Which has neurological symptoms…folate deficiency anemia or B12 deficiecy anemia

A

B12 deficiency anemia

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25
Q

What causes the neurological symptoms in B12 deficiency anemia?

A

the incrreased methymalonic acid!

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26
Q

Where is folate absorbed?

A

Jejunum

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27
Q

Where is folate absorbed?

A

Jejunum

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28
Q

Enzyme defective in orotic aciduria?

A

UMP synthase (de novo pyrimidine synthesis pathway

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29
Q

How do you differentiate ornithine transcarbamylase deficiency and orotic aciduria?

A

Both have increased orotic acid but only OTC deficiency has hyperammonemia

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30
Q

What is hepcidin?

A

released by liver to bind ferroportin on intestinal mucosal cells and macrophages to inhibit Fe transport

Upregulated in anemia of chronic disease

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31
Q

What is the treatment for anemia of chronic disease?

A

EPO

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32
Q

What is the treatment for hereditary spherocytosis?

A

Splenectomy

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33
Q

What 3 proteins can be mutated in hereditary spherocytosis?

A

Ankyrin
Band 3
4.2 spectrin

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34
Q

Which anemia is osmotic fragility test (+)?

A

Hereditary spherocytosis

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35
Q

Most commonenzymatic disorder of RBCs?

A

G6PD deficiency (X linked)

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36
Q

G6PD deficiecny leads to a decrease in what supstance?

A

decreased glutathione

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37
Q

“rigid red blood cells due to decreaesd ATP”

A

Pyruvate kinase deficency

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38
Q

Glu—> lys? in beta globin gene?

A

HbC defect

39
Q

“complement mediated RBC lysis due to impaired synthesis for decay accelerating factor that pretects RBC membrane from complement”

A

Paroxysmal nocturnal hemoglobinuria

40
Q

Coomb (-) hemolytic anemia?

A

Paroxysmal nocturnal hemoglobinuria

41
Q

What cell markers are missing on the RBCs of patients with paroxysmal nocturnal hemoglobinuria?

A

CD 55/59

42
Q

Glu–> val substitution on beta chain?

A

sickle cell anemia

43
Q

Why are newborns with HbS and beta thalassemia usually asymptomatic?

A

because fetal Hb is around until 6mo old

44
Q

What drug can increase HbF?

A

hydroxyurea

45
Q

Warm agglutinin is IgG or IgM? What about cold agglutinin?

A

IgG- Warm

IgM- Cold

46
Q

Which anemia is coombs (+)?

A

Autoimmune hemplytc anemia

47
Q

What type of anemia do mechanical heart valves lead to?

A

macroangiopathic anemia

48
Q

What type of anemia do mechanical heart valves lead to?

A

macroangiopathic anemia

49
Q

What enzyme is deficiency in acute intermittent porphyria?

A

Porphobilinogen deaminase

50
Q

“painful abdomen, port wine colored urine, polyneuropathy, psychological disturbances, precipitated by drugs (P450 inducers)”

A

Acute intermittent porphyria

51
Q

Enzyme defective in porphyria cutaea tarda?

A

Uroporphyrinogen decarboxylase?

52
Q

Most common porphyria?

A

porphyria cutanea tarda

53
Q

What cell damage results in Fe poisoning?

A

peroxidation of membrane lipids

54
Q

What is increased in hemophelia…PT or PTT?

A

PTT

55
Q

“decrease in GpIb leading to defective platelet adhesion”

A

Bernard- Soulier Syndrome

56
Q

“decrease in GpIIb/ IIIa leading to defective platelet aggregation”

A

Glanzman thrombasthenia

57
Q

“anti- GpIIb/IIIa antibodies commonly due to viral illness”

A

Immune thrombocytopenia

58
Q

“inhibition/ deficiency of ADAMTS 12 leading to decreased degredation of vWF multimers–> thrombosis”

A

TTP

59
Q

“Most common inherited coagulation disorder”

A

von Willebrand disease

60
Q

What is the inheritance pattern of vonWillebrand disease?

A

Autosomal Dominent

61
Q

“no increase in PTT following heparin administration”

A

antithrombin deficiency

62
Q

Most common cause of inherited hypercoagulability in whites?

A

Factor V leiden

63
Q

“increased risk of thrombotic skin necoriss with hemorrhage following administration of warfarin”

A

Protein C or S deficiecny

64
Q

What are 2 ways to differentiate leukemoid reaction from leukemia/ lymphoma?

A

Increased LAP and Left shift

65
Q

Which has “B” signs (constitutional symptoms)…Hodgkin or Non-Hodgkins?

A

Hodgkins

66
Q

Which has common extranodal involvement… Hodgkin or Non-Hodgkins?

A

Non- Hodgkins

67
Q

Reed- Sternberg cells?

A

Hodgkin lymphoma

68
Q

Markers of reed Sternberg cells?

A

CD15 + CD30 (B cell origin)

69
Q

Most common form of hodgkin lymphoma?

A

Nodular sclerosing form

70
Q

Name the cancer and the genes involved:

t(8;14)

A

Burkitt lymphoma

c-myc (8)
heavy chain Ig (14)

71
Q

Most common NHL in adults?

A

diffuse large B cell lymphoma

72
Q

Name the cancer and the genes involved:

t(14;18)

A

Follicular lymphoma

Heavy chain Ig (14)
BCL-2 (18)

73
Q

Name the cancer and the genes involved:

t(11;14)

A

Mantle cell lymphoma

cyclin D1 (11)
Heavy chain Ig (14)
74
Q

“cutaneous lesions and lytic bone lesions caused by a virus”

A

Adult T cell lymphoma

75
Q

Most common primary tumor arising within bone of people >40-50yo?

A

Multiple myeloma

76
Q

Symptoms of Multiple myeloma?

CRAB

A

hyerCalcemia
Renal involvement (bence jones)
Anemia
Bone lytic lesions/ Back pain

77
Q

Which Ig is increased in multiple myeloma?

A

IgG and IgA

78
Q

“monoclonal expansion of plasma cells, asymptomatic”

A

Monoclonal gammopathy of undetermined dignificance

79
Q

Which plasma cell disorder has increased IgM?

A

Waldenstrom macroglobulinemia

80
Q

Which cytokine stimulates plasma cell growth?

A

IL-6

81
Q

Which cytokine stimulates plasma cell growth?

A

IL-6

82
Q

Which leukemia is TdT+?

A

ALL

83
Q

Most common adult leukemia?

A

CLL/ small cell lymphoma

84
Q

Leukemia associated with marrow fibrosis in the elderly?

A

Hairy cell leukemia

85
Q

Which leukemia is TRAP (+)?

A

Hairy cell leukemia

86
Q

Auer rods are associated with…

A

AML

87
Q

Name the cancer and the genes involved:

t(15;17)

A

AML/ PML

RAR alpha translocation

88
Q

Which leukemia is associated with basophelia?

A

CML

89
Q

Name the cancer and the genes involved:

t(9; 22)

A

CML

BCR- ABL fusion gene with tyrosine kinase activity

90
Q

“lytic bone lesions, skin rash, recurrent otitis media, mass of mastoid bone”

A

langerhans cell histiocytosis

91
Q

“tennis racket” cells?

A

Langerhans cell histiocytosis

92
Q

A mutation in what protein is associated with PV, ET and Myelofibrosis?

A

JAK2 mutation

93
Q

“intense itching after hot shower”

A

PV becuase the basophelia

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