Path/Myeloproliferatives Flashcards

1
Q

What is the big problem with myeloproliferative diseases?

A

Chronic proliferation of clones that differentiate to circulating blood cells

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2
Q

What cell dysfunctions occur in CML?

A

High WBC

All stages of granulocytes in blood

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3
Q

What is the main difference between CML and CMML?

A

CMML shows abnormal monocyte lineages also

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4
Q

PV defect?

A

Erythroid lineage overactive –> elevated RBC count

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5
Q

ET and myelofibrosis main defect

A

Mutant megs cause elevated platelet count

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6
Q

Factors that help you distinguish infection from myeloproliferative disease?

A
Left shift
Toxic granulation
Symptoms
Check smear
WBC - myeloid bulge (more myelocytes than metamyelocytes )
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7
Q

CML

A

t(9;22) BCR-ABL1 Tyr kinase overactivity
carcinogen exposure-related

30-60 yo

Imatinib (if no resp use Dadat- and nilotinib)

Use PCR
Low LAP (nonfunctioning lymphocytes)

Hypercellular
No blasts
Basophilia in PB

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8
Q

PV what is the predominant cause?

A

JAK2V617F mutation

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9
Q

Mastocytosis cause

A

C-KIT or PDGF-RA activation

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10
Q

Mastocytosis immunophenotype

A

Tryptase!
CD117+
CD25+ usually

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11
Q

Mastocytosis treatment

A

Imatinib

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12
Q

Myelofibrosis cause

A

Jak2 mutation on chrmo 9

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13
Q

Myelofibrosis pathogenesis

A

Abnormal megs make cytokines –> collagen deposition from activated fibroblasts

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14
Q

JAK2 is mutated in these myeloproliferative diseases

A

Myelofibrosis, ET, PV

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15
Q

90% of cases of this disease involve JAK2 mutations

A

PV

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16
Q

Mastocytosis - what is the cause of the symptoms?

A

Histamine everywhere! flushing, rashes, urticaria

17
Q

What is the very definitive, necessary way to diagnose mastocytosis?

A

Immunophenotype

**Serum Tryptase!! + (mast cell granule marker)
CD117+ for c-Kit cases

18
Q

Myelofibrosis

A

> 50 yo
pres w thrombosis

Abnormal megs cytokines deposit collagen –> extramedullary hematopoiesis (spleen!)

**Splenomegaly

Reticulin fibers
platelets up (mutant megs)

BM full of Collagen III
TEAR DROPS on “myelo” guitar
nucleated RBCs

Tx: transfusion

19
Q

What is the differential diagnosis for primary myelofibrosis vs ET (vs iron def vs inflamm)?

A

Reticulin fibers in BM
+ = myelofibrosis
- = ET

Platelet count
very elevated –> myelofibrosis
norm/low –> thrombocythemia

TPO
Normal –> ET
Not –> other

20
Q

What is the treatment for ET?

A

Hydroxyurea

21
Q

How to PV patients present?

A

Thrombosis/HT/Stroke/MI from inc RBCs

22
Q

PV morphology

A

Hypercellular marrow
Erythroid hyperplasia
inc megs

23
Q

What is the typical ET presentation?

A

Thrombosis (inc platelets)

24
Q

What do you worry about in myelodysplasia

A

Progression to acute leukemia

25
Q

Refractory cytopenia with unilineage dysplasia - presentation and morphology

A

Unexplained cytopenia in elderly

Binucleated RBCs
Hypercellular marrow

26
Q

Refractory anemia with Ring sideroblasts - how to Dx?

A

Morphology + iron stain results (looking for signs of overload)

27
Q

Refractory anemia w ring sideroblasts - presentation and morphology

A

Unexplained cytopenia in elderly

Ring sideroblasts (nucleated RBCs with granules of iron accumulated in perinuclear mitochondria)

28
Q

Which myelodysplasias are at significant risk for progressing to acute leukemia?

A

Refractory cytopenia w multilineage dysplasia
MDS with del(5q)
Refractory anemia with excess blasts

29
Q

MDS with del(5q) - morphology, cytogenetics, presentation, prognosis, tx?

A

Severe anemia in elderly women

Loss of large arm of 5

ALL megs are mononuclear

Treat w/ lenalidomide

30
Q

Refractory cytopenia with multilineage dysplasia

A

Severe anemia

2+ lineages with dysplasia
Abnormal granulocyte degranulation
Abnormal nuclei lobulation

31
Q

Refractory anemia with excess blasts

A

Cytopenia with elderly patients

RAEB-1: 5-9% blasts
RAEB-2: 10-19% blasts

Blasts and dyspoietic maturation

CD34+ +/- CD117+

32
Q

How does refractory anemia with excess blasts differ from acute leukemia?

A

AML develops from blasts with translocations that halt differentiation

Here, mutation results in clonal expansion, more like a true malignancy