Proposed minimal diagnostic criteria for MDS
| Diagnosis of MDS requires: . |
|---|
| (A) Persistent blood cytopenia(s) as defined by local laboratory ranges (with consideration of patient factors, such as ethnic background, altitude of residence, etc), without another reversible cause, such as nutritional deficiency or the effect of a drug, and |
| (B1) Increased myeloblasts (5%-19%), or |
| (B2) Extensive dysplasia (>10% of marrow cells in at least 1 lineage: erythroid, granulocytic, or megakaryocytic), or |
| (B3) Karyotypic evidence of clonality with a typical MDS-associated alteration, such as del(5q) or monosomy 7 (excluding nonspecific alterations, such as trisomy 8, loss of the Y chromosome, isolated del(20q), or trisomy 1553 ) |
| Diagnosis of MDS requires: . |
|---|
| (A) Persistent blood cytopenia(s) as defined by local laboratory ranges (with consideration of patient factors, such as ethnic background, altitude of residence, etc), without another reversible cause, such as nutritional deficiency or the effect of a drug, and |
| (B1) Increased myeloblasts (5%-19%), or |
| (B2) Extensive dysplasia (>10% of marrow cells in at least 1 lineage: erythroid, granulocytic, or megakaryocytic), or |
| (B3) Karyotypic evidence of clonality with a typical MDS-associated alteration, such as del(5q) or monosomy 7 (excluding nonspecific alterations, such as trisomy 8, loss of the Y chromosome, isolated del(20q), or trisomy 1553 ) |
| Supplemental “co-criteria” include . |
|---|
| (C1) Abnormal findings on histologic or immunochemical studies of marrow biopsy that could be consistent with MDS, such as abnormally localized immature precursors, clusters of CD34-positive blast cells, or >10% dysplastic micromegakaryocytes detected by immunohistochemistry |
| (C2) Abnormal immunophenotype of marrow cells by flow cytometry with multiple MDS-associated phenotypic aberrancies |
| (C3) Evidence of a clonal population of myeloid cells by molecular genetic testing, which is the subject of this article |
| If (A) is present, but not (B1-B3), then the case might be termed “idiopathic cytopenias of undetermined significance” (ICUS): a term that is agnostic about clonality |
| C1-C3 alone are generally not yet considered specific enough by themselves to be confident about the diagnosis of MDS, but can help confirm the diagnosis if other criteria are present |
| Supplemental “co-criteria” include . |
|---|
| (C1) Abnormal findings on histologic or immunochemical studies of marrow biopsy that could be consistent with MDS, such as abnormally localized immature precursors, clusters of CD34-positive blast cells, or >10% dysplastic micromegakaryocytes detected by immunohistochemistry |
| (C2) Abnormal immunophenotype of marrow cells by flow cytometry with multiple MDS-associated phenotypic aberrancies |
| (C3) Evidence of a clonal population of myeloid cells by molecular genetic testing, which is the subject of this article |
| If (A) is present, but not (B1-B3), then the case might be termed “idiopathic cytopenias of undetermined significance” (ICUS): a term that is agnostic about clonality |
| C1-C3 alone are generally not yet considered specific enough by themselves to be confident about the diagnosis of MDS, but can help confirm the diagnosis if other criteria are present |
Table data based on WHO 2016 disease classification5 and Valent et al.6