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Clonal somatic mutations involving MDS‐associated genes are detectable in individuals who otherwise do not meet the criteria for a definitive diagnosis of MDS or other myeloid neoplasms⁴⁶ (Table 26.4). These mutations can be associated or not with cytopenias, and they can be associated with an increased risk of development of hematologic malignancies.⁴⁵ The presence of such mutations without cytopenias or dysplasia has been called clonal hematopoiesis of indeterminate potential (CHIP) and is completely asymptomatic; cytopenia is associated with clonality in the absence of morphologic features of MDS is called clonal cytopenia of undetermined significance (CCUS).

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

Table 26.5 International Prognosis Scoring System (IPSS) for MDS.

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.