MDS and Myeloproliferative DSA Flashcards
Myelodysplastic syndromes- essential of dx
- cytopenias with a hypercellular bone marrow
- morphologic abnormalities in 2 or more hematopoietic cell lines
Myelodysplastic syndromes- general
- may evolve into AML
- 5q– refractory anemia (without excess BM blasts)
- refractory anemia with excess blasts
- chronic myelomonocytic leukemia (CMML)- prolif syndrome (monocytosis > 1000)
Myelodysplastic syndromes- signs and sx
- > 60 yo
- asymptomatic when dx made
- fatigue, infection, bleeding- BM failure
Myelodysplastic syndromes- lab findings
- macro-ovalocytes
- Pelger-Huet- neutrophils- bilobed nucleus
- bone marrow- hypercellular
- erythroid hyperplasia
- abnormal erythropoiesis- megaloblastic, nuclear budding, multinucleated erythroid precursors
- ringed sideroblasts- prussian blue stain
- deletions of chrom 5 and 7
Myelodysplastic syndromes- tx
- anemia and low erythropoietin- epoetin
- thrombopoietin analogs
- immunosuppressive therapy- ATG
5q- syndrome- tx
-lenalidomide
used for transfusion-dep anemia due to myelodysplasia
high-risk myelodysplasia- tx
-azacitidine
Myelodysplastic syndromes- prognosis
- allogeneic transplantation- only curative therapy- 30-60% cure rate
- die of infections or bleeding
- 5q- syndrome- favorable prognosis- 5 yr survival 90%
- excess blasts or CMML- high risk (50%) of developing acute leukemia, and short survival (<2 yrs) w/o allogeneic transplantation
Myelodysplastic syndromes- international prognostoic scoring system
-based on % of bone marrow blasts, cytogenetics, and severity of cytopenias
Myeloproliferative disorders- 4 disorders
- CML (chronic myelocytic leukemia)
- PV (polycythemia vera)
- ET (essential thrombocythemia)
- MF (myelofibrosis)
Polycythemia vera- essentials of dx
- JAK2 mutation
- inc RBC mass
- splenomegaly
- normal arterial oxygen saturation
- usually elevated WBC and plt count
Polycythemia vera- signs, sx’s
- inc blood viscosity- HA, dizziness, blurred vision, fatigue
- median age 60 yo
- engorged retinal v’s
- splenomegaly
- thrombosis- most common complication
Polycythemia vera- lab
- hematocrit > 54% in males, 51% in females
- low erythropoietin levels
- dx confirmed with JAK2 mutation screening
secondary causes of polycythemia
- hypoxia
- smoking
- kidney lesions
- erythropoieitn-secretin tumors (rare)
Polycythemia vera- tx
- phlebotomy- 1 unit of blood removed weekly until hematocrit is < 45%- produces iron def (wanted!)
- myelosuppressive therapy may be indicated if high phlebotomy requirement, thrombocytosis, and pruritus- hydroxyurea!
- low dose aspirin- reduce thrombosis risk
Polycythemia vera- prognosis
- indolent- survival 15 yrs
- can convert to myelofibrosis or CML
Essential Thrombocytosis- essentials of dx
- elevated plt count in absence of other causes
- normal RBC mass
- absence of BCR/ABL gene
Essential Thrombocytosis- signs, sx’s
- age 50-60
- risk of thrombosis
- erythromelalgia- relieved by aspirin
Essential Thrombocytosis- lab
- elevated plt count- may be over 2,000,000
- large platelets- peripheral BS
- inc numbers of megakaryocytes in BM
Essential Thrombocytosis- vs reactive thrombocytosis
- reactive- plt count rarely is > 1,000,000
- JAK2 mutations- 50%
- lack of erythrocytosis- vs PV!
- no BCR/ABL gene mutation- vs CML!
Essential Thrombocytosis- tx
- hydroxyurea
- if not tolerated b/c of anemia- anagrelide
Essential Thrombocytosis- prognosis
- indolent- survival 15 yrs
- source of morbidity- thrombosis
- BM can become fibrotic- 10% of myelofibrosis progression after 15 yrs
Primary Myelofibrosis- essentials of dx
- striking splenomegaly
- teardrop poikilocytosis on PS
- leukoerythroblastic blood picture; giant abnormal plts
- initially hypercellular, then hypocellular BM with reticulin or collagen fibrosis
Primary Myelofibrosis- sx and signs
- > 50 yo
- fatigue (anemia) or abd fullness (splenomegaly)
- progressive BM failure- thrombocytopenia (bleeding), splenic infarction (enlarged spleen)
Primary Myelofibrosis- lab
- anemic
- PBS- TRIAD- poikilocytosis, leukoerythroblastic blood, giant degranulated plt forms
- teardrop forms in red cell line
- BM- dry tap
- silver stain- inc reticulin fibers
- JAK2 and MPL mutations
Primary Myelofibrosis- tx
-if splenomegaly- hydroxyurea
CML- essentials of dx
- elevated WBC
- left-shifted myeloid series but with a low % of promyelocytes and blasts
- BCR/ABL gene
CML- sx and signs
- 55 yo
- fatigue, night sweats, low-grade fevers
- splenomegaly
CML- lab
- elevated WBC- usually 150,000
- peripheral blood- left shifted myeloid series
- BCR/ABL Gene
- can progress to accelerated and blast phases- anemia and thrombocytopenia- blast phase is when blasts > 20% BM cells
reactive leukocytosis vs CML
-reactive- WBC < 50,000, no splenomegaly, no BCR/aBL gene
