- ↵* At least 15% ring sideroblasts required even if SF3B1 mutation is detected.
- ↵† A diagnosis of MDS/MPN-RS-T is strongly supported by the presence of SF3B1 mutation together with a mutation in JAK2 V617F, CALR, or MPL genes.
- ↵‡ In a case which otherwise fulfills the diagnostic criteria for MDS with isolated del(5q)-no or minimal absolute basophilia; basophils usually <2% of leukocytes.
- ↵* Cytopenias defined as: hemoglobin, <10 g/dL; platelet count, <100 × 109/L; and absolute neutrophil count, <1.8 × 109/L. Rarely, MDS may present with mild anemia or thrombocytopenia above these levels. PB monocytes must be <1 × 109/L
- ↵† If SF3B1 mutation is present.
- ↵‡ One percent PB blasts must be recorded on at least 2 separate occasions.
- ↵§ Cases with ≥15% ring sideroblasts by definition have significant erythroid dysplasia, and are classified as MDS-RS-SLD.
Hematology 林醫師
MDS; myelodysplastic syndrome
Pancytopenia
CD31 megaloblasts ↑
Erythroid aplasia
MPO<50%
CD34 ↑
CD117 ↑(membrane)
tdt↑(nuclear)
Ki-67↑
要配合Peripheral blood，MPN周邊血球是多而成熟，MDS是cytopenia
myeloproliferative neoplasms
Diagnostic criteria for MDS/MPN with ring sideroblasts and thrombocytosis
MDS/MPN diagnostic criteria
|
• Anemia associated with erythroid lineage dysplasia with or without multilineage dysplasia, ≥15% ring sideroblasts,* <1% blasts in PB and <5% blasts in the BM
|
• Persistent thrombocytosis with platelet count ≥450 × 109/L
|
• Presence of a SF3B1 mutation or, in the absence of SF3B1 mutation, no history of recent cytotoxic or growth factor therapy that could explain the myelodysplastic/myeloproliferative features†
|
• No BCR-ABL1 fusion gene, no rearrangement of PDGFRA, PDGFRB, or FGFR1; or PCM1-JAK2; no (3;3)(q21;q26), inv(3)(q21q26) or del(5q)‡
|
• No preceding history of MPN, MDS (except MDS-RS), or other type of MDS/MPN
|
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PB and BM findings and cytogenetics of MDS
Name
|
Dysplastic lineages
|
Cytopenias*
|
Ring sideroblasts as % of marrow erythroid elements
|
BM and PB blasts
|
Cytogenetics by conventional karyotype analysis
|
MDS with single lineage dysplasia (MDS-SLD)
|
1
|
1 or 2
|
<15%/<5%†
|
BM <5%, PB <1%, no Auer rods
|
Any, unless fulfills all criteria for MDS with isolated del(5q)
|
MDS with multilineage dysplasia (MDS-MLD)
|
2 or 3
|
1-3
|
<15%/<5%†
|
BM <5%, PB <1%, no Auer rods
|
Any, unless fulfills all criteria for MDS with isolated del(5q)
|
MDS with ring sideroblasts (MDS-RS)
| |||||
MDS-RS with single lineage dysplasia (MDS-RS-SLD)
|
1
|
1 or 2
|
BM <5%, PB <1%, no Auer rods
|
Any, unless fulfills all criteria for MDS with isolated del(5q)
| |
MDS-RS with multilineage dysplasia (MDS-RS-MLD)
|
2 or 3
|
1-3
|
BM <5%, PB <1%, no Auer rods
|
Any, unless fulfills all criteria for MDS with isolated del(5q)
| |
MDS with isolated del(5q)
|
1-3
|
1-2
|
None or any
|
BM <5%, PB <1%, no Auer rods
|
del(5q) alone or with 1 additional abnormality except −7 or del(7q)
|
MDS with excess blasts (MDS-EB)
| |||||
MDS-EB-1
|
0-3
|
1-3
|
None or any
|
BM 5%-9% or PB 2%-4%, no Auer rods
|
Any
|
MDS-EB-2
|
0-3
|
1-3
|
None or any
|
BM 10%-19% or PB 5%-19% or Auer rods
|
Any
|
MDS, unclassifiable (MDS-U)
| |||||
with 1% blood blasts
|
1-3
|
1-3
|
None or any
|
Any
| |
with single lineage dysplasia and pancytopenia
|
1
|
3
|
None or any
|
BM <5%, PB <1%, no Auer rods
|
Any
|
based on defining cytogenetic abnormality
|
0
|
1-3
|
<15%§
|
BM <5%, PB <1%, no Auer rods
|
MDS-defining abnormality
|
Refractory cytopenia of childhood
|
1-3
|
1-3
|
None
|
BM <5%, PB <2%
|
Any
|
------------
Myeloma
CD138 plasma cell
CD56 +/-
CD79a -
------------
Megalokaryocytes: CD31
------------
Desmoplastic small round cell tumor
WT1 +
CK -
------------
Diffuse large B cell
Intra vascular
------------
尤醫師
Paracortex: T cells
Mantle zone: naïve B
Germinal center: hyperpigmentation, class swich
------------
Low grade B cell lymphoma: Congo red +
Follicular type: BCL6, CD10 (normal在neutrophil, stroma)
Mantle zone: cyclinD1, CD5 (normal在T-cell)
Marginal zone: CD43
CLL: CD5, CD23 (normal在follicular dendritic cells)
SLL
------------
Chronic lymphocytic leukemia in (Richter's) transformation
出現平常B cell沒有的CD43
Germinal center 喪失bcl-2
------------
Clusters of CD123 positive PDC were observed in Kikuchi's disease
Post. neck
------------
Asia nose necrosis->NK/T cell lymphoma
Angiocentric pattern
CD3 (cyto)
CD5 (-)
------------
