Proposed minimal diagnostic criteria for myelodysplastic syndromes (MDS) and potential pre-MDS conditions

Abstract

Myelodysplastic syndromes (MDS) comprise a heterogeneous group of myeloid neoplasms characterized by peripheral cytopenia, dysplasia, and a variable clinical course with about 30% risk to transform to secondary acute myeloid leukemia (AML). In the past 15 years, diagnostic evaluations, prognostication, and treatment of MDS have improved substantially. However, with the discovery of molecular markers and advent of novel targeted therapies, new challenges have emerged in the complex field of MDS. For example, MDS-related molecular lesions may be detectable in healthy individuals and increase in prevalence with age. Other patients exhibit persistent cytopenia of unknown etiology without dysplasia. Although these conditions are potential pre-phases of MDS they may also transform into other bone marrow neoplasms. Recently identified molecular, cytogenetic, and flow-based parameters may add in the delineation and prognostication of these conditions. However, no generally accepted integrated classification and no related criteria are as yet available. In an attempt to address this challenge, an international consensus group discussed these issues in a working conference in July 2016. The outcomes of this conference are summarized in the present article which includes criteria and a proposal for the classification of pre-MDS conditions as well as updated minimal diagnostic criteria of MDS. Moreover, we propose diagnostic standards to delineate between ´normal´, pre-MDS, and MDS. These standards and criteria should facilitate diagnostic and prognostic evaluations in clinical studies as well as in clinical practice.

ICUS, IDUS, CHIP and CCUS: Diagnostic Criteria, Separation from MDS and Clinical Implications

“…In these cases, it may be difficult to establish or exclude an overt MDS. There are also patients who have an abnormal (MDS-related) karyotype but only mild or no cytopenia and no overt BM or PB dysplasia [22, 27]. Other patients have transfusion-dependent macrocytic anemia but no MDS-related karyotype, no molecular aberrations, and no dysplasia.…”

“…Other patients have transfusion-dependent macrocytic anemia but no MDS-related karyotype, no molecular aberrations, and no dysplasia. Many of these cases and constellations have to be regarded as pre-MDS conditions rather than overt MDS [22, 27]. Moreover, several of these patients develop other myeloid neoplasms (other than MDS) or even a non-hematologic disease.…”

“…A similar proposal focusing on minimal diagnostic MDS criteria was presented by a working group in 2007 [22]. These diagnostic criteria were updated and extended to pre-MDS states in 2017 [27]. The following MDS criteria were proposed.…”

“…Over the past few years, several different proposals for the definition and classification of pre-MDS conditions have been published [20, 22, 23, 27]. The current article provides and overview of these proposals and of the criteria used to discriminate pre-MDS conditions from each other and from low-risk MDS.…”

The Molecular Pathology of Myelodysplastic Syndrome

“…Several recent papers have published their experiences regarding clinical wording [20, 21] and clinical use in a routine setting [22, 23]. Malcovati et al [22] and Baer et al [23] investigated unclear cytopenias without clear-cut morphological changes and normal karyotype with gene panels (Fig.…”