Pathy's Principles and Practice of Geriatric Medicine - Группа авторов

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PB <1% BM <5% No Auer rods Any Defining cytogenetic abnormality 0 1–3 <15%d PB <1% BM <5% No Auer rods MDS defining abnormality RCC Refractory cytopenia of childhood 1–3 1–3 None PB <2% BM <5% No Auer rods Any

      WHO, World Health Organization; MDS, myelodysplastic syndromes; PB, peripheral blood; BM, bone marrow; RS, ring sideroblasts

      a Cytopenias MDS‐defining: Hb<100g/L, PLT<100×109/L, ANC<1.8×109/L; absolute monocytes count<1.0×109/L;

      b with SF3B1 mutation;

      c 1% PB blasts must be recorded on at least two separate observations;

      d If with ≥15% ring sideroblasts and significant erythroid dysplasia, and are classified as MDS‐RS‐SLD.

      Source: Adapted from Montalban‐Bravo et al.60

Features CHIP ICUS CCUS MDS
Cytopenias No Yes (1 or more) Yes (1 or more) Yes (1 or more)
Dysplasia No None or minimal (non‐diagnostic for MDS) None or minimal (non‐diagnostic for MDS) Yes (>10% of elements per lineage in at least one
Somatic mutations Yes, at a variant allele frequency ≥2%. Most commonly: DNMT3A, TET2, ASXL1, SRSF2, TP53 No Up to 36% overall with similar mutation VAF compared to MDS17% of ICUS without dysplasia45% of ICUS with some dysplasia Up to 85% of patients
Risk of progression Very low (0.5–1% per year) outside of therapy‐related setting Up to 10% at five years Up to 80% at five years but determined by mutational patterns

      CHIP, clonal hematopoiesis of indeterminate potential; ICUS, idiopathic cytopenia of undetermined significance; CCUS, clonal cytopenia of undetermined significance; MDS, myelodysplastic syndromes.

      For MDS with ring sideroblasts, since the presence of the SF3B1 mutation is associated with the presence of RS, the updated WHO classification of MDS‐RS includes patients who have the SF3B1 mutation but lack excess blasts or an isolated del(5q) abnormality.

      MDS with excess blasts is separated into patients with <10% marrow blasts (MDS‐EB‐1) and those with 10–19% marrow blasts (MDS‐EB‐2). It should also be noted that the denominator used for determining blast percentage in all myeloid neoplasms was redefined to include all nucleated bone marrow cells as opposed to only nonerythroid cells. This modification shifted a select group of patients previously categorized as AML to MDS‐EB.

      MDS‐U (unclassifiable) is defined as the presence of 1% blasts in the peripheral blood, recorded on at least two separate occasions, with <5% BM blasts. MDS‐U also includes cases with single‐lineage dysplasia or isolated del(5q) and pancytopenia, or defining cytogenetic abnormality and one to three lineages cytopenia.

      Uncertain conditions

      Some patients may have persistent unexplained cytopenias with no or minimal dysplasia (non‐diagnostic for MSD), and this condition is called idiopathic cytopenia of undetermined significance (ICUS). In these conditions, regular monitoring is recommended at least every six months after the initial evaluation.59

      Source: Adapted from Greenberg et al.6

BM blasts (%) Karyotypea Cytopeniasb Score
<5 Good 0 or 1 0
5–10 Intermediate 2 or3 0.5
Poor 1.0
11–20 1.5
21–30 2.0

      a Karyotype definitions: good, –Y, –5q, –20q, normal; poor, chromosome 7 abnormalities or complex karyotypes (three or more abnormalities); intermediate, all others.

      b Cytopenia definitions: haemoglobin, <10 g dl−1; absolute neutrophil count, <1800 μl−1; platelet count, <100,000 μl−1.

      

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