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Blood and Lymph Unit 2 > Myelodysplastic Syndrome &Myeloproliferative Neoplasms > Flashcards

Myelodysplastic Syndrome &Myeloproliferative Neoplasms Flashcards

1
Q

Define myelodysplastic syndrome.

A

A group of clonal hematopoietic stem cell disorders characterized by

  • Ineffective hematopoiesis
  • Increased risk of transformation to acute myeloid leukemia
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2
Q

What are the two types of clinical scenarios of MDS?

A
  1. Primary/ Idiopathic: Patients usually over 50yrs

2. Increased risk of transformation to acute myeloid leukemia

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3
Q

Persistent cytopenias of two or more lineages in an elderly patient would suggest what syndrome?

A

Myelodysplastic syndrome. The clones replace the marrow to a varying extent thus decreasing physical space in which other lineages can replicate

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4
Q

What should you see on evaluation of bone marrow of a patient with MDS?

A
  1. Dyserythropoiesis
  2. Dysgranulopoiesis
  3. Dysmegakaryopoiesis
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5
Q

What is dyserythropoiesis?

A

RBC precursors with nuclear budding, irregularly-shaped nuclei, lack of coordination between nuclear and cytoplasmic maturation, increased ring sideroblasts.

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6
Q

What is dysgranulopoiesis?

A

Nuclear hypolobation of mature neutrophils, including neutrophils with bilobed nuclei called pseudo-Pelger-Huet cells, also cytoplasmic hypogranularity of neutrophils

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7
Q

What is dysmegakaryopoiesis?

A

Megakaryocytes with hypolobated or non-lobated nuclei, often hyperchromatic nuclei, megakaryocytes often of small size.

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8
Q

What would the karyotypes of a person with MDS look like?

A 
Monosomy 7 
Deletion 7q
Monosomy 5
Deletion 5q
Trisomy 8
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9
Q

What are some secondary causes of MDS?

A
  • Chemotherapeutic drugs
  • Deficiencies of Vitamin B12, folic acid, or certain essential elements
  • Viral infections
  • Toxin exposure, especially heavy metals
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10
Q

What is low grade MDS?

A

Myeloblasts account for less than 5% of marrow cells, and less than 2% of peripheral blood cells

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11
Q

What is high grade MDS?

A

Myeloblasts account for 5% or more of marrow cells, and/or 2% of peripheral blood cells

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12
Q

What are the three types of low grade MDS?

A
  1. Refractory cytopenias with unilineage dysplasia
  2. Refractory cytopenias with multilineage dysplasia
  3. MDS with Isolated deletion 5q
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13
Q

What is the prognosis of a patient with RC-UD?

A

Good. Only 2% of cases transform to AML

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14
Q

What is the prognosis of RC-MD?

A

Median survival of 2.5 years

Rate of transformation 10% at 2 years

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15
Q

Which type of low grade MDS is associated with anemia, increased platelets, and marrow showing distinctive megakaryocytes with small, round, non-lobated nuclei?

A

MDS with isolated deletion 5q

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16
Q

What are the two types of high grade MDS?

A
  1. Refractory anemia with excess blasts-1 (RAEB-1): marrow blasts= 2-9% and peripheral blood 2-4%
  2. Refractory anemia with excess blasts-II (RAEB-II): marrow blasts = 10-19% and peripheral blood= 5-19%
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17
Q

What is the prognosis of high grade MDS?

A

Poor diagnosis most patients die from bone marrow failure before transformation to AML

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18
Q

What is the treatment of patients with MDS?

A

Allogeneic stem cell transplant

Supportive care- including transfusions

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19
Q

Describe the characteristics of myeloproliferate neoplasms (MPNs).

A

Proliferation of one or more myeloid lineages usually seen in adults in their 50s-70s

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20
Q

Name the phenotypic presentation of MPNs.

A
  1. Hypercellular marrow

2. Splenomegaly and/or hepatomegaly

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21
Q

What causes splenomegaly and/or hepatomegaly in patients with MPNs?

A
  1. Sequestration of excess blood cells

2. Extramedullary hematopoiesis

22
Q

What are three outcomes of untreated MPNs?

A
  1. Transformation to acute leukemia
  2. Development of Myelodysplasia with ineffective hematopoiesis
  3. Excessive marrow fibrosis with resultant bone marrow failure
23
Q

What genes are commonly mutated in MPNs?

A

Genes that encode for cytoplasmic or receptor protein tyrosine kinases (PTKs)

24
Q

What are the four classifications of myeloproliferative neoplasms?

A
  1. Chronic myelogenous leukemia (CML)
  2. Polycythemia vera (PV)
  3. Primary myelofibrosis (PMF)
  4. Essential thrombocythemia (ET)
25
Q

What is the definition of CML?

A

CML is a clonal hematopoietic stem cell disorder, associated with the presence of the BCR-ABL1 gene fusion, and most prominently manifesting as a prominent neutrophilic leukocytosis

26
Q

What are the clinical findings of a patient with CML?

A

Initial symptoms- Fatigue, weight loss, night sweats, splenomegaly, and anemia.

CBC- neutrophillia

27
Q

What is the typical age at diagnosis for CML?

A

40s and 50s

28
Q

What is the chronic phase of CML?

A

It is the initial phase in which blasts are not significantly increased in the marrow or blood

  • Neutrophilia
  • Basophilia
  • Thrombocytopenia (although can be within normal range)q
29
Q

How does the bone marrow appear in a patient with chronic myelogenous leukemia?

A

Hypercellular marrow due to granulocytic hyperplasia.

Small megakaryocytes with round, non-lobulated nuclei

NO DYSPLASIA

30
Q

What would happen if CML was left untreated?

A

It would rapidly progress to acute leukemia with 20% or more blasts in the marrow or blood

31
Q

What would be the course of CML to Acute leukemia?

A

Chronic Myelogenous Leukemia»»Accelerated phase»>Blast phase

32
Q

What genetic perturbation partially defines CML?

A

BCR-ABL1 gene fusion resulting from a translocation (9;22)(q34;q11.2)

Derivative chromosome 22, which is referred to as the Philadelphia Chromosome

Two proteins could be produced:

  • 210 kD
  • 190kD
33
Q

How can you diagnose BCR-ABL fusion?

A
  1. Karyotypes
  2. FISH
  3. RT-PCR of BCR-ABL mRNA transcripts
34
Q

What is the treatment of someone with CML?

A
  • Gleevac protein tyrosin kinase inhibitor (first gen)

- Dasatinib protein tyrosin kinase inhibitor (second gen)

35
Q

What is polycythemia vera (PV)?

A

Myeloproliferative neoplasm characterized primarily by an increase in RBC mass (erythrocytosis) accompanied by an increase in neutrophils and platelets.

36
Q

What gene is mutated in PV?

A

Nearly all cases of PV contain a mutation of the JAK2 gene encoding the JAK2 cell signaling protein

Most contain the V617F point mutation

37
Q

What if a patient has erythrocytosis and doesn’t have JAK2 gene mutation?

A

Could be secondary erythrocytosis due to smoking or chronic hypoxia

38
Q

What are the two stages of polycythemia vera?

A
  1. Polycythemic Stage- increased peripheral blood cell counts
  2. Spent Phase-Marrow shows prominent fibrosis and peripheral blood cell counts fall
39
Q

What is the most common complication of PV?

A 
Venous or arterial thrombosis that can present as:
-DVT
-Myocardial ischemia
-Stroke
-headache
-dizziness
-visual problems 
Splenomegaly 
Hepatomegaly
40
Q

True or False:
-The possibility of PV should always be considered in a patient with thrombosis of the mesenteric vein, portal vein, or splenic vein.

A

YAAAAASSSSSSS!!!!

41
Q

What is the genetic mutation found in 50% of primary myelofibrosis?

A

Mutations of JAK2

42
Q

Describe the prefibrotic stage.

A

Marrow is hypercellular- granulocytic and megakaryocytic proliferation

Megakaryocytes are large, bizarre and are found in others

Marked thrombocytosis

+/- neutophilia

43
Q

During the fibrotic stage there is significant reticulin fibrosis with loss of marrow space. Hematopoiesis then occurs in the marrow sinusoids. What is this called?

A

Intramedullary extramedullary hematopoiesis

44
Q

What is seen in the peripheral blood of patients with primary myelofibrosis in the fibrotic stage?

A

Leukoerythroblastosis- Increased immature granulocytes and increased immature nucleated red blood cells (tear drop shape)

45
Q

Extramedullary hematopoiesis also occurs in primary myelofibrosis. Where may this occur?

A

Spleen, liver, lymph nodes, and other organs

46
Q

When is primary myelofibrosis diagnosed?

A

Not diagnosed until the fibrotic stage

Median survival around 5 years

47
Q

How does essential thrombocythemia different from primary myelofibrosis?

A

ET only has marked thrombocytosis, but no granulocytic hyperplasia in the the marrow (this is PMF)

48
Q

What genetic mutation is found in 50% of all essential thrombocythemia (ET) ?

A

JAK2

49
Q

What are four signs and symptoms of ET?

A
  • Transient ischemic attacks
  • digital ischemia with paresthesias
  • thrombosis of major arteries or veins
  • Splenomegaly is NOT COMMON
50
Q

What is the median survival of someone with ET?

A

10-15 years

Blood and Lymph Unit 2 (9 decks)

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