Myelodysplastic Syndromes

MDSs usually present in which population? symptoms?

- ppl over 50
- recurrent infections, bleeding, weight loss, cardiovascular problems

If a younger adults has MDS, what could be the cause?

chemo, radiation, benzene, or inherited BM failure conditions

What percent of MDS demonstrate chromosomal abnormalities? what chromosomes?

50% (5q and 7q)

Lab findings for erythroid lineage MDS

anemia, poiki/aniso, macrocytes, basophilic stipplin, nRBCs, HJ bodies, reticulocytopenia

Lab findings for Myeloid lineage MDS

neutropenia, hypogranulation, left shift, nuclear abnormalities, monocytosis

Lab findings for Thrombocyte lineage MDS

Giant, hypogranulation, micromegakaryocytes, dysfunctional plts

Erythroid MDS bone marrow profile

megaloblasts, weird nuclei, defective heme, vacuoles, ring sideroblasts

Myeloid MDS bone marrow profile

abnormal granules, weird nuclei, dec MPO, auer rods

Thrombocyte MDS bone marrow profile

abnormal granules, weird nuclei, micromegakaryocytes

MDS with single lineage dysplasia

- 10-20% of MDS pts
- cytopenia w/ unilineage dysplasia
- anemia w/ dec retics (ovalos and macros)
- Blasts: <1% blood, <5% marrow, <15% sideros

What percent of MDS single lineage dysplasia cases progress to AML?

5%

MDS with multi OR single lineage dysplasia and ringed sideros

- same as MDS multi or single w/ > 15% ringed sideros
- blasts: <1% blood, <5% marrow

MDS with multilineage dysplasia

- 30-40% of cases
- bi or pancytopenia w/ multilineage dysplasia
- blasts: same as single lineage

What percent of MDS multilineage dysplasia cases progress to AML?

10%

MDS with excess blasts

- dysplasia in all 3 lines
- weird plts (giant, abnormal granules, dysfuctional)
- 25-50% progress to AML

MDS-EB1 (blasts in blood and marrow)

<5% blasts in blood
<10% blasts in marrow

MDS-EB2 (blasts in blood and marrow)

5-19% blasts in blood
10-19% blasts in marrow

MDS with isolated deletion (5q)

- most favorable prognosis (less likely progress to AML)
- women > men
- macrocytic anemia (leukopenia, normal-^ plt, no blasts)

Childhood MDS

- refractory cytopenia of childhood
- poor prognosis if < 2 and hgb-F >10%

What genetic syndrome is associated with childhood MDS?

Down Syndrome (monosomy 7 common)

Childhood MDS blasts in blood and marrow

<2% blasts in blood
<5% blasts in marrow

Chronic Myelomonocytic Leukemia (CMML)

monocytosis, <20% blasts BM and blood, dysplasia in >/=1 myeloid lineage

CMML-1

increase in mature monos and does not evolve into AML (reactive monocytosis)

CMML-2

increase in mature/immature monos (usu. develops into AML-M4 or M5)

What genetic abnormalities are associated with CMML?

absence of BCR/ABL1 gene, no rearrangement of PDGFRa, b, or 1 genes

CMML is considered a:

myelodysplastic/myeloproliferative neoplasm (MDS/MPN)