Evolution of diagnostic criteria for MDS-del(5q) over time
| Authors/classification . | Definition of the nosologic entity . | Comments . |
|---|---|---|
| Van den Berghe et al (1974)1 | Clonal disorder affecting a myeloid stem cell and characterized by acquired deletion of the long arm of one chromosome 5, refractory macrocytic anemia, mild neutropenia, and marginally elevated platelet count | For many years, the hematologic disorder associated with the acquired 5q chromosomal abnormality has been designated as 5q− syndrome |
| 2001 WHO classification of tumors of hematopoietic and lymphoid tissues4 | Anemia with marginally elevated platelet count, normal to increased megakaryocytes with hypolobulated nuclei, <5% blasts in bone marrow, no Auer rods, isolated del(5q) on karyotype | In 2001, the 5q− syndrome was included in the WHO classification of the myeloid neoplasms as MDS with isolated deletion 5q, or MDS-del(5q) |
| 2016 Revision of the WHO classification of tumors of hematopoietic and lymphoid tissues5 | Condition with 1-2 cytopenias in the peripheral blood, 1-3 dysplastic lineages, <5% blasts in bone marrow (and <1% in the peripheral blood), no Auer rods, del(5q) alone or with 1 additional abnormality except monosomy 7 or del(7q) | Based on observational clinical studies, it was concluded that the diagnosis of MDS-del(5q) with isolated del(5q) can be made if there is 1 additional cytogenetic abnormality, excluding monosomy 7 or del(7q) |
| 2022 ICC of myeloid neoplasms and acute leukemias6 2022 5th edition of the WHO classification of hematolymphoid tumors7 | ≥1 cytopenias in the peripheral blood, (dysplasia not required for diagnosis in ICC), hypolobulated megakaryocytes typically present, <5% blasts in the bone marrow (and <2% in the peripheral blood), del(5q) with up to 1 additional abnormality, except monosomy 7 or del(7q), absence of TP53 multihit state | Because patients with MDS with TP53 multihit state (ie, biallelic inactivation of TP53) have aggressive disease with poor clinical outcomes, the presence of this genomic abnormality defines the new nosologic entity of TP53-mutant MDS, which supersedes an isolated del(5q) |
| Authors/classification . | Definition of the nosologic entity . | Comments . |
|---|---|---|
| Van den Berghe et al (1974)1 | Clonal disorder affecting a myeloid stem cell and characterized by acquired deletion of the long arm of one chromosome 5, refractory macrocytic anemia, mild neutropenia, and marginally elevated platelet count | For many years, the hematologic disorder associated with the acquired 5q chromosomal abnormality has been designated as 5q− syndrome |
| 2001 WHO classification of tumors of hematopoietic and lymphoid tissues4 | Anemia with marginally elevated platelet count, normal to increased megakaryocytes with hypolobulated nuclei, <5% blasts in bone marrow, no Auer rods, isolated del(5q) on karyotype | In 2001, the 5q− syndrome was included in the WHO classification of the myeloid neoplasms as MDS with isolated deletion 5q, or MDS-del(5q) |
| 2016 Revision of the WHO classification of tumors of hematopoietic and lymphoid tissues5 | Condition with 1-2 cytopenias in the peripheral blood, 1-3 dysplastic lineages, <5% blasts in bone marrow (and <1% in the peripheral blood), no Auer rods, del(5q) alone or with 1 additional abnormality except monosomy 7 or del(7q) | Based on observational clinical studies, it was concluded that the diagnosis of MDS-del(5q) with isolated del(5q) can be made if there is 1 additional cytogenetic abnormality, excluding monosomy 7 or del(7q) |
| 2022 ICC of myeloid neoplasms and acute leukemias6 2022 5th edition of the WHO classification of hematolymphoid tumors7 | ≥1 cytopenias in the peripheral blood, (dysplasia not required for diagnosis in ICC), hypolobulated megakaryocytes typically present, <5% blasts in the bone marrow (and <2% in the peripheral blood), del(5q) with up to 1 additional abnormality, except monosomy 7 or del(7q), absence of TP53 multihit state | Because patients with MDS with TP53 multihit state (ie, biallelic inactivation of TP53) have aggressive disease with poor clinical outcomes, the presence of this genomic abnormality defines the new nosologic entity of TP53-mutant MDS, which supersedes an isolated del(5q) |