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Master Thesis

Syndromes myélodysplasiques inclassables définis par une anomalie cytogénétique : étude rétrospective et multicentrique

Abstract : Myelodysplastic syndromes (MDS) are a heterogeneous group of myeloid malignancies defined by morphological abnormalities of myeloid precursors and ineffective hematopoiesis inducing the emergence of cytopenia. The diagnosis is mainly based on cytological expertise, but the role of cytogenetics has grown in recent years, especially for the determination of prognosis using scores such as IPSS and IPSS-R. Among this group, an entity makes an exception: unclassifiable MDS, defined by a cytogenetic abnormality (MDS-U-C). This group is defined by the absence of distinctive cytological markers in cytopenic patients for whom a karyotype reveals an abnormality qualified as presumptive. The purpose of this study is to evaluate the characteristics of this entity thanks to a cohort of patients selected from nine French university hospitals. First, an exhaustive re-evaluation of myelodysplasia was performed, to ensure that it met the WHO criteria. This part resulted in the reclassification for 30 of the 64 patients, thus raising several problems, in particular the specificity of certain morphological abnormalities, the interindividual variability that they generate and the relevance of the dysplasia’s thresholds. By comparing the cytogenetic profiles of the included patients, two distinct groups stood out according to the WHO’s description of the abnormalities or not. The diagnostic value of this second group, quite heterogeneous, remains uncertain to this date. This raises several questions about the specificity of these abnormalities and the classification of these patients as MDS-U-C or with cytopenia of undetermined significance. Genetic and epigenetic profiles, now excluded from diagnostic classifications, would then provide the information necessary to clear up the diagnostic ambiguities that are MDS-U-C.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02967936
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Submitted on : Thursday, October 15, 2020 - 11:48:50 AM
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Victor-Emmanuel Brett. Syndromes myélodysplasiques inclassables définis par une anomalie cytogénétique : étude rétrospective et multicentrique. Sciences du Vivant [q-bio]. 2020. ⟨dumas-02967936⟩

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