Analysis of genetic characteristics of 436 children with dysplasia and detailed analysis of rare karyotype.

Chromosomal abnormality is one of the important causes of dysplasia in children. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with dysplasia vary greatly. Moreover, the clinical manifestations in children with rare chromosomal diseases were heterogeneous.

Cytogenetic analysis of 2959 couples with spontaneous abortion and detailed analysis of rare karyotypes.

Chromosome abnormality is one of the important causes of spontaneous abortion. However, due to regional and ethnic differences, the reported rates of chromosomal abnormalities in patients with spontaneous abortion vary greatly. At present, there is no large sample statistics of chromosome abnormality in patients with spontaneous abortion in Yantai, Shandong province, China and hence 2959 couples (5918 individuals) with spontaneous abortion were recruited for this study.

Clinical, cytogenetic and molecular analyses of a rare case with ring chromosome 15 and review of the literature.

Objective: Ring chromosome 15 [r (15)], accompanied by a series of clinical symptoms, is a rare genetic disease. The genotype and phenotypic diversity of patients with r (15) still needed further enrichment. In this study we present a rare case of mosaic ring chromosome 15 with facial anomalies and extremities slenderness.

Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 associated with congenital hypoplasia of the tongue and review of the literature.

Objective: To present molecular cytogenetic characterization of mosaic supernumerary ring chromosome 8 which has trisomy of a region of chromosome 8p12-q21.13 associated with congenital hypoplasia of the tongue and review of the literature.

Case Report: A 27 year-old woman presented with congenital hypoplasia of the tongue.

in Plasma is a Potential Prognostic Biomarker in Acute Myeloid Leukemia.

Objective: The aim of the study was to investigate whether nucleophosmin type A mutation () in plasma was associated with the prognosis of patients with acute myeloid leukemia (AML).

Methods: Plasma levels were investigated in 80 AML patients, 22 patients with benign hematopathy and 12 healthy donors by qRT-PCR. Additionally, the relationship between levels and clinic characteristics were evaluated by Chi-square test.

CEBPA-mediated upregulation of the lncRNA PLIN2 promotes the development of chronic myelogenous leukemia via the GSK3 and Wnt/β-catenin signaling pathways.

Accumulating evidence has shown that long noncoding RNAs (lncRNAs) are significant regulators of multiple cellular processes, including the development of chronic myelocytic leukemia (CML). However, the mechanism of how the lncRNA PLIN2 affects CML development remains unclear. In this study, we aimed to investigate the potential roles of CEBPA-mediated upregulation of PLIN2 in the process of CML development by regulating the GSK3 and Wnt/β-catenin signaling pathways.

LncRNA CCAT2 predicts poor prognosis and regulates growth and metastasis in small cell lung cancer.

LncRNA colon cancer-associated transcript 2 (CCAT2) was firstly discovered and found overexpressed in colorectal cancer, and identified as is oncogenic lncRNA. However, the significance of CCAT2 in small cell lung cancer (SCLC) remains unclear. The expression of CCAT2 in SCLC tissues and cell lines was detected, and the association between CCAT2 expression and clinicopathological factors was analyzed.

Overexpression of CCAAT Enhancer-Binding Protein α Inhibits the Growth of K562 Cells via the Foxo3a-Bim Pathway.

We aimed to investigate the role of CCAAT enhancer-binding protein α (C/EBPα) in the pathogenesis of chronic myeloid leukemia (CML) and the mechanism underlying its effect. Bone marrow specimens from 50 patients with CML and peripheral blood specimens from 20 healthy individuals were collected. K562 cells were treated with imatinib.

Nucleophosmin Mutants Promote Adhesion, Migration and Invasion of Human Leukemia THP-1 Cells through MMPs Up-regulation via Ras/ERK MAPK Signaling.

Acute myeloid leukemia (AML) with mutated nucleophosmin (NPM1) has been defined as a unique subgroup in the new classification of myeloid neoplasm, and the AML patients with mutated NPM1 frequently present extramedullary infiltration, but how NPM1 mutants regulate this process remains elusive. In this study, we found that overexpression of type A NPM1 gene mutation (NPM1-mA) enhanced the adhesive, migratory and invasive potential in THP-1 AML cells lacking mutated NPM1. NPM1-mA had up-regulated expression and gelatinolytic matrix metalloprotease-2 (MMP-2)/MMP-9 activity, as assessed by real-time PCR, western blotting and gelatin zymography.

Evodiamine inhibits the proliferation of leukemia cell line K562 by regulating peroxisome proliferators-activated receptor gamma (PPARγ) pathway.

Evodiamine, a quinolone alkaloid, is one of the major bioactive compounds of Evodia rutaecarpa Bentham (Rutaceae). It exhibits excellent biological activities, especially the anticancer activity. This study aims to investigate the effect of evodiamine on the proliferation of leukemia cell line K562 and to explore the underlying mechanism.

[The expression and role of the transcription factor C/EBPα in chronic myeloid leukemia].

Objective: To investigate the expression and the possible mechanism of the transcription factor C/EBPα in chronic myeloid leukemia（CML).

Methods: Bone marrow samples from 50 CML patients（including 33 patients in chronic phase, 7 in accelerated phase and 10 in blast crisis）and peripheral blood specimens of 20 healthy donors were collected. The expression of C/EBPα gene and the effect of Imatinib on its expression was detected by RT- PCR.

Monoclonal antibodies against nucleophosmin mutants: potentials for the detection of acute myeloid leukemia.

Nucleophosmin (NPM1) gene mutations resulting in cytoplasmic delocalization of Nucleophosmin (NPMc+) are the most common genetic alteration in acute myeloid leukemia (AML). Here, we attempted to prepare monoclonal antibodies (mAbs) against NPM1 mutation A (NPM-mA) and investigated the mAbs' clinical utility in immunohistochemical detection of NPMc+AML. The pET-32a-NPM-mA vector with the whole open reading frame of the NPM-mA gene was constructed.

Knockdown of NPM1 by RNA interference inhibits cells proliferation and induces apoptosis in leukemic cell line.

Nucleophosmin (NPM1) is an abundant and ubiquitously expressed phosphoprotein that is known to influence solid tumors progression. However, little is known about the role of NPM1 in leukemia. Here, we knocked down the NPM1 expression by RNA interference to investigate the role of NPM1 in leukemic cells proliferation and apoptosis.

Nucleophosmin gene mutations promote NIH3T3 cell migration and invasion through CXCR4 and MMPs.

Nucleophosmin (NPM1) plays key roles in ribosome biogenesis, centrosome duplication, and maintenance of genomic integrity. NPM1 mutations have been recently identified as the most frequent genetic alteration in acute myeloid leukemia and are related to leukemogenesis. NPM1 mutations are involved in the regulation of cell proliferation, cell cycle, and apoptosis.

Increased integrity of circulating cell-free DNA in plasma of patients with acute leukemia.

Background: Increased cell-free DNA (cf-DNA) and the integrity of cf-DNA in plasma of patients with cancer has been described. We investigated the clinical utility of cf-DNA in the detection and monitoring of progression of leukemia.

Methods: Plasma samples from 60 patients with acute leukemia were analyzed in comparison to plasma from 30 healthy controls.

Fluorouracil selectively enriches stem-like leukemic cells in a leukemic cell line.

Recent studies have reported that cancer stem cells (CSCs) could be isolated from solid cancer cell lines, in which the purity of CSCs was higher than that from tumor tissues. Separation of CSCs from leukemic cell lines was rarely reported. In this study, CD34(+)CD38(-)stem-like cell subsets in human KG-1a leukemic cell line were enriched by cytotoxic agent 5-fluorouracil (5-FU).