Myelodysplasias

Question 1

Things that should make you suspicious of Myelodysplasia…Epidemiology

Answer 1

Age…usually presents in elderly patients

Question 2

Things that should make you suspicious of Myelodysplasia…CBC

Answer 2

usually unexplained cytopenia, bicytopenia, or pancytopenia

Question 3

Things that should make you suspicious of Myelodysplasia…Diagnostic features

Answer 3

Abnormal “dyspoietic” bone marrow morphologies

Abnormal “dyspoietic” immunophenotypes of maturing precursors

Abnormal cytogenetics

Increased morphologic blasts (>5% but <20%)

Question 4

Things that should make you suspicious of Myelodysplasia…Clinical progression

Answer 4

Some are high risk for progressing to acute leukemia…others low risk

Some the condition doesn’t affect survival and therapies would do more harm than good…others there are effective drugs

Question 5

5 major adult forms (best to worst prognosis)

Answer 5

1. Refractory cytopenia w/ unilineage dysplasia
2. Refractory anemia w/ ring sideroblasts
3. Myelodysplastic syndrome w/ isolated del(5q)
4. Refractory cytopenia w/ multilineage dysplasia
5. Refractory anemia w/ excess blasts

Question 6

Refractory Cytopenia w/ unilineage dysplasia…Morphological findings

Answer 6

Usually cytogenetic abnormalities (i.e. trisomies, monosomies), BUT sometimes cytogenetics are normal

Weird looking precursors
binucleation or irregular nuclei
can show fibrosis
high or low cellularity
megaloblastoid features (nonspecific)

Question 7

Random Note card
Megaloblastoid features (differential diagnosis)

Answer 7

nutritional deficiencies
drugs
HIV
Refractory cytopenia w/ unilineage dysplasia

Question 8

Refractory Cytopenia w/ unilineage dysplasia…Clinical Presentation

Answer 8

Unexplained cytopenias

usually elderly pts (>65-yrs)

Question 9

Refractory Cytopenia w/ unilineage dysplasia…Immunophenotype

Answer 9

Can show abnormal acquisition of surface markers

Question 10

Refractory Cytopenia w/ unilineage dysplasia…Prognosis

Answer 10

Survival not clearly less than normal for age…

Rarely progresses to AML

Question 11

Refractory anemia w/ ring sideroblasts…Diagnosis

Answer 11

Morphological findings + iron stain

Nonspecific cytogenetic abnormalities may be present

Question 12

Refractory anemia w/ ring sideroblasts…Clinical Presentation

Answer 12

Unexplained cytopenias

usually elderly pts

Question 13

Refractory anemia w/ ring sideroblasts…Morphology

Answer 13

Ring sideroblasts usually w/ dyspoietic features (in red cell series ONLY)

Question 14

Refractory anemia w/ ring sideroblasts…Immunophenotpe

Answer 14

Can show abnormal acquisition of surface markers

Question 15

Refractory anemia w/ ring sideroblasts…Prognosis

Answer 15

Survival not clearly less than normal for age….Rarely progresses to AML

Question 16

MDS w/ isolated del(5q)…Key characteristics

Answer 16

ALL the megakaryocytes are mononuclear

Cytogenetics shows ONLY loss of large arm of chromosome 5!

Question 17

MDS w/ isolated del(5q)…Clinical Presentation

Answer 17

Anemia (often severe)
usually elderly pts
more often women

Question 18

MDS w/ isolated del(5q)…Morphology

Answer 18

all the megs are mononuclear

Question 19

MDS w/ isolated del(5q)…Immunophenotype

Answer 19

No known findings

Question 20

MDS w/ isolated del(5q)…Prognosis

Answer 20

Good median survival
treatable w/ lenalidomide
10% progress to AML

Question 21

Refractory cytopenia w/ multilineage dysplasia…Key Features

Answer 21

Two or more lineages show dysplastic changes

About half show nonspecific cytogenetic abnormalities

Question 22

Refractory cytopenia w/ multilineage dysplasia…Clinical Presentation

Answer 22

Anemia (often severe)
Usually elderly pts
more often women

Question 23

Refractory cytopenia w/ multilineage dysplasia…Morphology

Answer 23

Granulocytes (if affected) don’t granulate normally

nuclei don’t lobulate normally

Question 24

Refractory cytopenia w/ multilineage dysplasia…Immunophenotype

Answer 24

Can show abnormal acquisition of surface markers

Question 25

Refractory cytopenia w/ multilineage dysplasia...Prognosis

Answer 25

Median survival 30 months | 10% progression to AML in 2 yrs

Question 26

Refractory anemia w/ excess blasts...Key features

Answer 26

5-9% morphologic blasts (RAEB-1) 10-19% morphologic blasts (RAEB-2) about half show nonspecific cytogenetic abnormalities "Pre-leukemia"

Question 27

Refractory anemia w/ excess blasts...Clinical Presentation

Answer 27

Cytopenias | usually elderly pts

Question 28

Refractory anemia w/ excess blasts...Morphology

Answer 28

Blasts and dyspoietic maturation

Question 29

Refractory anemia w/ excess blasts...Immunophenotype

Answer 29

Blast Population (CD34+ and/or CD117) usually

Question 30

Refractory anemia w/ excess blasts...Prognosis

Answer 30

RAEB-1....25% progress to AML | RAEB-2...33% progress to AML