Diagnostic approach to MDS
| Diagnostic tool . | Diagnostic value . | Priority . |
|---|---|---|
| Peripheral blood smear | • Evaluation of dysplasia in one or more cell lines • Enumeration of blasts | Mandatory |
| Bone marrow aspirate | • Evaluation of dysplasia in one or more hematopoietic cell lines • Enumeration of blasts • Enumeration of ring sideroblasts | Mandatory |
| Bone marrow biopsy | • Assessment of cellularity, CD34+ cells, and fibrosis | Mandatory |
| Cytogenetic analysis | • Detection of acquired clonal chromosomal abnormalities that can allow a conclusive diagnosis and also prognostic assessment | Mandatory |
| FISH | • Detection of targeted chromosomal abnormalities in interphase nuclei following repeated failure of standard G-banding | Recommended |
| Flow cytometry immunophenotyping* | • Detection of abnormalities in erythroid, immature myeloid, maturing granulocytes, monocytes, immature and mature lymphoid compartments | Recommended |
| SNP array | • Detection of chromosomal defects at a high resolution in combination with metaphase cytogenetics | Suggested |
| Mutation analysis of candidate genes | • Detection of somatic mutations that can allow a conclusive diagnosis and also reliable prognostic evaluation | Suggested |
| Diagnostic tool . | Diagnostic value . | Priority . |
|---|---|---|
| Peripheral blood smear | • Evaluation of dysplasia in one or more cell lines • Enumeration of blasts | Mandatory |
| Bone marrow aspirate | • Evaluation of dysplasia in one or more hematopoietic cell lines • Enumeration of blasts • Enumeration of ring sideroblasts | Mandatory |
| Bone marrow biopsy | • Assessment of cellularity, CD34+ cells, and fibrosis | Mandatory |
| Cytogenetic analysis | • Detection of acquired clonal chromosomal abnormalities that can allow a conclusive diagnosis and also prognostic assessment | Mandatory |
| FISH | • Detection of targeted chromosomal abnormalities in interphase nuclei following repeated failure of standard G-banding | Recommended |
| Flow cytometry immunophenotyping* | • Detection of abnormalities in erythroid, immature myeloid, maturing granulocytes, monocytes, immature and mature lymphoid compartments | Recommended |
| SNP array | • Detection of chromosomal defects at a high resolution in combination with metaphase cytogenetics | Suggested |
| Mutation analysis of candidate genes | • Detection of somatic mutations that can allow a conclusive diagnosis and also reliable prognostic evaluation | Suggested |
Standard methods from the International Flow Cytometry Working Group of the European LeukemiaNet are recommended (see supplemental Table 1).