Myelodysplastic Syndrome with Ring Sideroblasts (MDS-RS)
2016 WHO revision effectively replaces the category of refractory anemia with ringed sideroblasts (RARS) as MDS-RS with single lineage dysplasia (MDS-RS-SLD), and is expanded to include cases of MDS with ring sideroblasts and multilineage dysaplasia (MDS-RS-MLD).
Diagnostic Criteria: MDS-RS-SLD
- Single lineage erythroid dysplasia (>10% for each affected lineage)
- 1-2 cytopenias
- Increased ring sideroblasts (≥15% or ≥5% with SB3F1 mutation, the presence which constitutes dysplasia irrespective of the presence or absence of other features of erythroid dysplasia)
- <5% bone marrow blasts
- <1% peripheral blood blasts
- No Auer Rods
- Any abnormalities, except for isolated 5q deletion (MDS with isolated 5q-)
Diagnostic Criteria: MDS-RS-MLD
- Multi lineage (2-3) dysplasia (>10% for each affected lineage)
- 1-2 cytopenias
- Increased ring sideroblasts (≥15% or ≥5% with SB3F1 mutation, the presence which constitutes dysplasia irrespective of the presence or absence of other features of erythroid dysplasia)
- <5% bone marrow blasts
- <1% peripheral blood blasts
- No Auer Rods
- Any abnormalities, except for isolated 5q deletion (MDS with isolated 5q-)
Immunohistochemistry
The use of immunohistochemistry (IHC) in many of the MDS syndromes is limited. Identifying an increased blast population is one of the most useful, and may indicate a more aggressive course or transformation to acute myelogenous leukemia (AML). Helpful IHC markers may include:
Stain
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Comment
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CD34 marks immature cells including myeloblasts. In the setting of AML, it is ~70% sensitive. A subset of lymphoblasts may express CD34.
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CD117 is a specific myeloid marker, and marks a subset of myeloblasts. The expression is dim, and one often must look at 20-40X to clearly see expression. Mast cells (fried egg looking cell) will have very strong expression.
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CD71 marks nucleated erythroid cells. This may be helpful in quantitating and differentiating erythroid cells from myeloid cells. This marker may be set-up as a double stain with CD34.
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In the setting of hematopoietic cells, E-Cadherin marks immature erythroid cells. Like CD71, E-Cadherin may be useful to differentiate immature erythroid cells from immature myeloid cells.
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TdT is a sensitive lymphoblast (~95%) marker. It is not entirely specific for lymphoblasts, but other markers can help clarify diagnostic difficulties (B and T-cell markers).
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References
Swerdlow SH, Campo E, Harris, NL, Jaffe ES, Pileri SA, Stein H, Thiele J (Eds): WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues (Revised 4th edition). IARC: Lyon 2017
Hematopathology. [edited by] Jaffe, ES. 1st. ed. Elsevier, Inc. © 2011.