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Master Thesis

Syndromes myélodysplasiques avec trisomie 8 isolée : une forme fréquemment associée à des caractéristiques myéloprolifératives ?

Abstract : Isolated trisomy 8 (+8) is a frequent cytogenetic abnormality in the myelodysplastic syndromes (MDS), but its characteristics are poorly reported. We performed a retrospective study of patients with isolated +8, classified or reclassified as MDS according to the WHO 2016 classification (excluding myelodysplastic syndromes/myeloproliferative neoplasms). Myeloproliferative (MP) features were defined by the repeated presence of one of the following: white blood count > 10.109/L, myelemia (presence of circulating immature granulocytes with a predominance of mature forms) > 2%, palpable splenomegaly. 138 patients were included, of whom 44.9% MDS-EB-1 or -2, 39.8% MDS-SLD or MDS-MLD, 10.9% MDS-RS and 4.3% MDS-U. MP features were present in 54 patients (39.1%): 28 at diagnosis, 26 acquired during evolution. The mean percentage of metaphases with +8 was 58.9% in the MP group, and 47.0% in the non-MP group (p = 0.043). MP forms had more EZH2 (33.3 vs. 12.0% in non-MP, p = 0.047), ASXL1 (66.7 vs. 42.3%, p = 0.048) and STAG2 mutations (77.8 vs. 21.7%, p = 0.006). Median event-free survival (EFS) and overall survival (OS) were 25 and 27 months for patients with MP features at diagnosis, versus 28 (p = 0.14) and 39 months (p = 0.085) for those without MP features, respectively. Among the 57 patients who received hypomethylating agent (HMA), OS was lower in MP cases (13 vs. 23 months in non-MP cases, p = 0.02). In conclusion, MP features are frequent in MDS with isolated +8. MP forms had more mutations of EZH2, ASXL1 and STAG2, responded poorly to HMA, and tended to have poorer survival than non-MP forms.
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Master Thesis
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Louis Drevon. Syndromes myélodysplasiques avec trisomie 8 isolée : une forme fréquemment associée à des caractéristiques myéloprolifératives ?. Médecine humaine et pathologie. 2019. ⟨dumas-02498358⟩

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