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Isochromosome 20q- (i(20q-)), as a rare reproducible chromosomal anomaly formed on the basis of 20q-, has not been commonly reported. Due to the rarity of this karyotypic anomaly, the bone marrow morphological characteristics of the patients with i(20q-) have not been clarified until now. In this study, the bone marrow cell morphology from MDS patients with isolated i(20q-), isolated 20q-, and normal karyotype was retrospectively compared and statistically analyzed. The results indicated that the isolated i(20q-) was mostly detected in MDS-MLD patients. The frequency and proportion dysplasia of cytoplasmic vacuolization in erythoid cells and small or unusually large size in myeloid cells of isolated i(20q-) MDS patients were significantly higher than those of normal karyotype MDS patients respectively (P < 0.05); the frequency and proportion dysplasia of decreased granules/agranularity in myeloid cells of isolated i(20q-) MDS patients were higher than those of isolated 20q- MDS patients (P < 0.05). The incidence of some specific morphological manifestations, such as deeply lobulated and hyperlobulated megakaryocytes and hypogranular and vacuolized eosinophils, may be an important morphological implication for the anomaly of isolated i(20q-). These morphological features of dysplasia may be helpful in distinguishing MDS with isolated i(20q-) from those with isolated 20q- and normal karyotype. [ABSTRACT FROM AUTHOR]

This study aimed to determine the clinical characteristics and prognostic significance of the meningioma 1 ( MN1) gene and MN1-associated microRNA expression in Chinese adult de novo acute myeloid leukemia (AML) patients. The expression level of MN1, microRNA- 20 ( miR- 20a), and microRNA- 181b ( miR- 181b) in bone marrow mononuclear cells was measured in 158 newly diagnosed AML patients and 20 cases of normal healthy donors by real-time quantitative reverse transcriptase polymerase chain reaction. All AML patients significantly overexpressed MN1 at the level of 0.01983 ( P < 0.001) compared with normal controls. High MN1 expression was associated with spleen involvement ( P = 0.037), NPM1 wild type ( P = 0.001), lower miR- 20a expression levels ( P = 0.015), and higher miR- 181b expression levels ( P = 0.035). MiR- 20a ( P = 0.029) and miR- 181b ( P = 0.017) overexpressed in the bone marrow cells of patients with certain subtypes of AML compared with healthy donors. High MN1 expressers had lower complete remission (CR) rates and shorter overall survival (OS) within the Southwest Oncology Group classification. In multivariable models, high MN1 expression was associated with worse CR rates ( P = 0.01), relapse-free survival (RFS; P = 0.02), and OS ( P = 0.02); high miR- 20a expression was associated with higher CR rates ( P = 0.008) and longer OS ( P = 0.04), whereas high miR- 181b expression was associated with lower CR rates ( P = 0.03), and shorter RFS ( P = 0.045) and OS ( P = 0.017). High MN1 expression confers worse prognosis in Chinese adult patients with de novo AML. MN1 gene and MN1-associated microRNAs provide clinical prognosis of AML patients and may refine their molecular risk classification. [ABSTRACT FROM AUTHOR]