myelodysplastic synd_06-07.ppt
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Transcript of myelodysplastic synd_06-07.ppt
MYELODYSPLASTIC SYNDROMEMYELODYSPLASTIC SYNDROME
Masatoshi Kida, M.D.Dept. of Pathology
University of Vermont
Myelodysplastic SyndromeMyelodysplastic Syndrome
• heterogeneous group of hematologic disorders• maturation defects resulting in ineffective hematopoiesis
pancytopenia in peripheral blood• “preleukemia” many progress to overt acute leukemia
classification (FAB classification) (based on % blasts and ringed sideroblasts)
1. refractory anemia (RA)2. refractory anemia with ringed sideroblasts (RARS)3. refractory anemia with excess blasts (RAEB)4. refractory anemia with excess blasts in transformation (RAEB-T)5. CMML (chronic myelomonocytic leukemia)
Myelodysplastic SyndromeMyelodysplastic Syndrome2001 WHO classification2001 WHO classification
refractory anemia (RA)
refractory anemia with ringed sideroblasts (RARS)
refractory cytopenia with multilineage dysplasia (RCMD)
RCMD with ringed sideroblasts (RCMD-RS)refractory anemia with excess blasts-1 (RAEB-1) <5% blasts
refractory anemia with excess blasts-2 (RAEB-2) 5-19% blasts
myelodysplastic syndrome, unclassified (MDS-U)MDS with isolated del(5q) <5% blasts
myelodysplastic syndromemyelodysplastic syndromeclassificationclassification
RA <5% <1% --
RARS <5% <1% +
RAEB 5-20% <5%
RAEB-T 20-30% >5%
CMML dysplastic monocytosis
blasts ringed sideroblasts
BM peripheral
myelodysplastic syndromemyelodysplastic syndrome
Etiology:• vast majority of cases are sporadic
“risk factors”• chemical solvent (benzene)• pesticides• chemotherapy / radiation therapy
“therapy-related MDS/AML”
myelodysplastic syndromemyelodysplastic syndrome
Incidence:
de novo MDS 1 per 100,000 per year
(>60 y/o --- 25 to 50 per 100,000 per year)
t-MDS/AML 4 to 18% in autologous BMT
myelodysplastic syndromemyelodysplastic syndromegenetic abnormalitiesgenetic abnormalities
“loss of genetic material”• 5q- 15% of de novo MDS
50% of t-MDS• monosomy 7• trisomy 8• 21q-• 17q-• 20q-• t(11;16)(q23;p13) -- exclusively with t-MDS/AML• t(3;21)(q22;q22) -- with some of t-MDS/AML• t(5;12)(q33;p13) -- CMML
myelodysplastic syndromemyelodysplastic syndromeclinical featuresclinical features
peripheral cytopenia
neutropenia 24 to 39% of patients
anemia 45 to 93%
thrombocytopenia 28 to 45%
both quantitative and qualitative defect
highly susceptible to bacterial infection
normal T- and B-cell numbers and functions
no opportunistic infection
Myelodysplastic SyndromeMyelodysplastic Syndrome
•anemia•macrocytosis•large plts without granules•PMNs
•hypogranulated•pseudo Pelger-Huët cells•abnormally segmented nuclei•Döhl bodies
•circulating myeloblasts
myelodysplastic syndromemyelodysplastic syndromeclinical featuresclinical features
de novo MDS -- occurs in elderly population
30% die of unrelated underlying disease(s)
40% die of complication(s) of marrow failure
30% die of transformation to acute leukemia
myelodysplastic syndromemyelodysplastic syndrometreatmenttreatment
1. supportive care (blood transfusion, etc.)
2. allogeneic bone marrow transplant
42% disease-free survival at 4 years