Next-generation sequencing based detection of and large genomic rearrangements in Chinese cancer patients.

mutation is a biomarker for guiding multiple solid tumor treatment. However, the prevalence of large genomic rearrangements (LGRs) in Chinese cancer patients has not been well revealed partially due to technical difficulties in LGR detection. This study utilized next-generation sequencing (NGS) to analyze the mutation profile, including LGR, in 56126 Chinese cancer patients.

Improving arm segmentation in sign language recognition systems using image processing.

Background: For a traditional vision-based static sign language recognition (SLR) system, arm segmentation is a major factor restricting the accuracy of SLR.

Objective: To achieve accurate arm segmentation for different bent arm shapes, we designed a segmentation method for a static SLR system based on image processing and combined it with morphological reconstruction.

Methods: First, skin segmentation was performed using YCbCr color space to extract the skin-like region from a complex background.

Derlin-1 exhibits oncogenic activities and indicates an unfavorable prognosis in breast cancer.

Derlin-1 is involved in the elimination of misfolded proteins and has been implicated in the progression of human cancers. However, its prognostic value and biological function in breast cancer remain unknown. Here, we show that Derlin-1 is overexpressed in breast cancer and exhibits oncogenic activities via interaction with UBE2C.

METTL1 overexpression is correlated with poor prognosis and promotes hepatocellular carcinoma via PTEN.

RNA methylation is emerging as an important regulator of gene expression. Dysregulation of methyltransferase that is essential for RNA modification contributes to the development and progression of human cancers. Here we show that methyltransferase-like 1 (METTL1) is upregulated in hepatocellular carcinoma (HCC) and exhibits oncogenic activities via PTEN/AKT signaling pathway.

Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review.

Malignant peripheral nerve sheath tumors (MPNSTs) are unusual and aggressive malignant soft-tissue tumors that comprise 5-10% of all soft-tissue sarcomas. Approximately 50% of MPNST cases are associated with neurofibromatosis type-1 (NF-1). As a rare MPNST subset, the epithelioid variant of MPNST (eMPNST) is histologically characterized by the predominant presence of epithelioid tumor cells, and accounts for <5% of all MPNSTs.

SPAG5 interacts with CEP55 and exerts oncogenic activities via PI3K/AKT pathway in hepatocellular carcinoma.

Background: Deregulation of microtubules and centrosome integrity is response for the initiation and progression of human cancers. Sperm-associated antigen 5 (SPAG5) is essential for the spindle apparatus organization and chromosome segregation, but its role in hepatocellular carcinoma (HCC) remains undefined.

Methods: The expression of SPAG5 in HCC were examined in a large cohort of patients by RT-PCR, western blot and IHC.

CBX1 Indicates Poor Outcomes and Exerts Oncogenic Activity in Hepatocellular Carcinoma.

Dysregulation of chromobox proteins contributes to the progression of human diseases. CBX1 has been implicated in epigenetic control of chromatin structure and gene expression, but its role in human cancers remains largely unknown. Here we show that CBX1 exhibits oncogenic activities in hepatocellular carcinoma (HCC) and indicates poor outcomes.

CBX4 exhibits oncogenic activities in breast cancer via Notch1 signaling.

Polycomb chromobox (CBX) proteins are involved in gene silencing to function as oncogenes or tumor suppressors through the polycomb repressive complex (PRC1). CBX4 has been implicated in the progression of human cancers, but its role and clinical significance in breast cancer remain unclear. Here, we show that CBX4 is up-regulated in breast cancer and exerts oncogenic activities via miR-137-mediated activation of Notch1 signaling pathway.

Effect of antitumor treatments on triple-negative breast cancer patients: A PRISMA-compliant network meta-analysis of randomized controlled trials.

Background: Triple-negative breast cancer (TNBC) lacks the expression of the estrogen receptor, progesterone receptor, and receptor tyrosine-protein kinase erbB-2 (HER2/neu), which renders hormone-related endocrine and targeted therapy essentially futile.

Objective: We performed a meta-analysis to assess the effects of antitumor regimens in the treatment of TNBC patients.

Methods: We searched electronic databases, including PubMed, Embase, and the Cochrane Library, through January 2017 using the following keywords: "triple negative breast cancer," "TNBC," and "random*" without language restrictions.

TRIM65 triggers β-catenin signaling via ubiquitylation of Axin1 to promote hepatocellular carcinoma.

Deregulation of ubiquitin ligases contributes to the malignant progression of human cancers. Tripartite motif-containing protein 65 (TRIM65) is an E3 ubiquitin ligase and has been implicated in human diseases, but its role and clinical significance in hepatocellular carcinoma (HCC) remain unknown. Here, we showed that TRIM65 expression was increased in HCC tissues and associated with poor outcome in two independent cohorts containing 888 patients.

PDZ binding kinase, regulated by FoxM1, enhances malignant phenotype via activation of β-Catenin signaling in hepatocellular carcinoma.

Deregulation of serine/threonine kinase contributes to the development and progression of human diseases. PDZ-binding kinase (PBK) has been implicated in the malignant process of cancers, but its role and clinical significance in hepatocellular carcinoma (HCC) remains unclear. Here we show that PBK expression is increased and associated with larger tumor size, presence of vascular invasion, lymph node metastasis and poor overall and disease-free survivals in two independent cohorts of 879 patients with HCC.

Clinical pathology of metastatic gastric carcinoma to the breast: A report of two cases and a review of literature.

The breast is an unusual site for metastasis from a gastric carcinoma. The present study reports two cases of metastatic gastric carcinoma to the breast. The first patient, a 37-year-old woman, initially presented with gastric adenocarcinoma, prior to developing metastatic cancer to the breast 4 years later.

DHX33 expression is increased in hepatocellular carcinoma and indicates poor prognosis.

DEAH-box helicase 33 (DHX33) has been implicated in ribosome biogenesis, mRNA translation and inflammation. However, the role of DHX33 in human cancer is rarely studied. Here, we showed that DHX33 expression was significantly increased in hepatocellular carcinoma (HCC), compared with the adjacent nontumorous tissues.

[Analysis of OCRL gene mutation in a male infant with Lowe syndrome].

Objective: To identify pathological mutation in a Chinese male infant featuring oculocerebrorenal syndrome (also called Lowe syndrome).

Methods: Clinical data of the patient were collected. DNA was extracted from peripheral blood of the infant and his parents.

The Hb H disease genotypes in Southern China.

Abstract We report the genetic data of 435 patients with Hb H (β4) disease who presented at our center between 2005 and 2012. Our results showed that all patients had the Southeast Asian deletion (- -(SEA)) on one allele. The -α(3.

[Genotype of thalassemia genes and the polymorphism of β- globin gene in Cantonese].

Objective: To understand the genotype of α and β-globin, as well as the polymorphism of β-globin gene in Cantonese in recent years, and to provide an effective genetic diagnosis for thalassemia (thal).

Methods: The single-tube complex PCR was used to detect 3 types of deletional α-thal, reverse dot blotting (RDB)/PCR to detect 3 kinds of undeletional α-thal-αCS, αQS, αWSand 18 kinds of β-thal mutations which were common in Chinese population. A total of 454 cases from Guangdong were undergone thal genotype genetic diagnosis.

Primary small cell carcinoma of the esophagus: clinicopathological and immunohistochemical features of 21 cases.

Background: Primary small cell carcinoma (SCC) of the esophagus is a rare and aggressive tumor with poor prognosis. In this study, we report the clinicopathological characteristics of 21 cases of small cell carcinoma of the esophagus treated at the Cancer Center of Sun Yat-Sen University, with particular focus on the histologic and immunohistochemical findings.

Methods: Twenty-one patient records were reviewed including presenting symptoms, demographics, disease stage, treatment, and follow-up.

[High expression of nucleophosmin/B23 in hepatocellular carcinoma].

Objective: To study the expression of nucleophosmin/B23 (B23) in tumor cells of hepatocellular carcinoma (HCC) and its clinicopathologic significance.

Methods: Mouse monoclonal antibodies against B23 were raised by recombinant protein and hybridoma technology. Immunohistochemical study for B23 was performed on 103 cases of HCC, 12 cases of focal nodular hyperplasia and 17 cases of native liver tissue adjacent to hepatic hemangioma.

Structure and function of glucose-6-phosphate dehydrogenase-deficient variants in Chinese population.

A systematic study on the structure and function of Glucose-6-phosphate dehydrogenase (G6PD) variations was carried out in China. A total of 155,879 participants were screened for G6PD deficiency by the G6PD/6PGD ratio method and 6,683 cases have been found. The prevalence of G6PD deficiency ranged from 0 to 17.

[Expression of CD56, as a potential diagnostic marker, in small cell carcinoma].

Background & Objective: Small cell carcinoma is a rare malignant disease with high mortality, which is pathologically diagnosed by using routine neuroendocrinal markers, such as neuron-specific enolase (NSE), synaptophysin (SYN), chromogranin A (CgA). This study was to investigate the expression of CD56, a neural cell adhesion molecule (NCAM), in small cell carcinoma tissues, and to explore the possibility of CD56 as a diagnostic marker of small cell carcinoma.

Methods: Eighty samples of small cell carcinoma were collected, including 42 samples of small cell lung carcinoma (with 20 cases of lymph node metastases), 21 samples of small cell esophageal carcinoma, and 17 samples of small cell colorectal carcinoma.

[Detection and analysis of the sub-types of -alpha3.7 in Chinese].

-alpha3.7 is a common deletional alpha-thalassemia-2 in China. According to different recombination sites,-alpha3.

[Complex mutations of 1311 C-->T in exon 11 and 93 T-->C in intron 11 in G6PD gene].

Objective: To investigate the relationship between complex 1311 mutation of C-->T in exon 11 and 93 T-->C in intron 11 of G6PD gene and the G6PD deficiency.

Methods: Using NBT paper strip method to screen and quantitative NBT method to confirm G6PD deficiency. PCR-SSCP technique was used to find the abnormal exon 11 and the amplification refractory mutation system (ARMS) to identify 1311 mutation, and DNA sequencing to identify the complex mutation at 1311 in exon 11 and 93 in intron 11.

[Identification of G6PD gene variants from Hakka population in Guangdong province].

Objective: Studying on G6PD polymorphism from Hakka population in Guangdong province.

Methods: Identifying the variants of G6PD gene and determining the frequencies respectively with the use of amplified refractory mutation system(ARMS), polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP) and ABI 3100 DNA sequencing technologies.

Results: Mutations of G6PD gene in cDNA 1388 (G-->A), 1376 (G-->T), 95 (A-->G), 392 (G-->T), 1024 (C-->T), 1311 (C-->T) have been found.