Determination of CEBPA mutations by next generation sequencing in pediatric acute leukemia

OBJECTIVES: The CCAAT/enhancer-binding protein-alpha (CEBPA) is lineage-specifi c transcription factor in the hematopoietic system. In this study, we aimed on the clinical features and the prognostic signifi cance associated with CEBPA mutations in 30 pediatric patients with acute leukemia. METHODS: In addition, the association between found variants and mutations of Ten-Eleven-Translocation 2 (TET2), Kirsten rat sarcoma viral oncogene homolog (KRAS), and Casitas B-cell lymphoma (CBL), FLT3 (FmsRelated Tyrosine Kinase), JAK2 (Januse Kinase-2) and Nucleophosmin 1 (NPM1) were analyzed, which are important prognostic risk factors for pediatric acute leukemia patients. The entire CEBPA coding region was screened using the NGS method. RESULTS: CEBPA mutations were detected in 16 (53.3 %) of 30 patients. In total, ten distinct of nucleotide changes were identifi ed in 30 patients, including 6 novel and 4 known mutations by sequencing the entire CEBPA gene. We found 6 frame shift mutations, 1 missense mutation, 3 synonymous variants. The most common mutation was the c.487del G resulting p.Glu163Ser in 5 cases. Three patients carried CEBPA double mutations. CONCLUSION: The detected variants in this article seemed to be the fi rst screening results of genes studied by NGS in pediatric acute leukemia patients. Our results also showed some degree of association between FLT3- ITD, TET2, KRAS, CBL and CEBPA mutations (Tab. 4, Fig. 1, Ref. 24)

Surgical anatomy of the cervical sympathetic trunk during anterolateral approach to cervical spine

The sympathetic trunk is sometimes damaged during the anterior and anterolateral approach to the cervical spine, resulting in Horner’s syndrome. No quantitative regional anatomy in fresh human cadavers describing the course and location of the cervical sympathetic trunk (CST) and its relation to the longus colli muscle (LCM) is available in the literature. The aims of this study are to clearly delineate the surgical anatomy and the anatomical variations of CST with respect to the structures around it and to develop a safer surgical method that will diminish the potential risk of CST injury. In this study, 30 cadavers from the Department of Forensic Medicine were dissected to observe the surgical anatomy of the CST. The cadavers used in this study were fresh cadavers chosen at 12–24 h postmortem. The levels of superior and intermediate ganglions of cervical sympathetic chain were determined. The distance of the sympathetic trunk from the medial border of LCM at C6, the diameter of the CST at C6 and the length and width of the superior and intermediate (middle) cervical ganglion were measured. Cervical sympathetic chain is located posteromedial to carotid sheath and just anterior to the longus muscles. It extends longitudinally from the longus capitis to the longus colli over the muscles and under the prevertebral fascia. The average distance between the CST and medial border of the LCM at C6 is 11.6 ± 1.6 mm. The average diameter of the CST at C6 is 3.3 ± 0.6 mm. Superior ganglion of CSC in all dissections was located at the level of C4 vertebra. The length and width of the superior cervical ganglion were 12.5 ± 1.5 and 5.3 ± 0.6 mm, respectively. The location of the intermediate (middle) ganglion of CST showed some variations. The length and width of the middle cervical ganglion were 10.5 ± 1.3 and 6.3 ± 0.6 mm, respectively. The CST’s are at high risk when the LC muscle is cut transversely, or when dissection of the prevertebral fascia is performed. Awareness of the CST’s regional anatomy may help the surgeon to identify and preserve it during anterior cervical surgeries

Association between XRCC3 Thr241Met polymorphism and laryngeal cancer susceptibility in Turkish population

WOS: 000364507300026PubMed ID: 25510985DNA repair systems are essential for normal cell function. Genetic alterations in the DNA repair genes such as X-ray repair cross-complementing group 3 (XRCC3), can cause a change in protein activity which results in cancer susceptibility. The aim of this study was to investigate the association of XRCC3 Thr241Met single nucleotide polymorphism (SNP), smoking and alcohol consumption with the risk of laryngeal cancer in Turkish population. The frequencies of Thr241Met SNP were studied in 58 laryngeal cancer cases (SSC) and 67 healthy individuals. Genomic DNA was isolated from peripheral blood samples of both controls and laryngeal cancer cases. Thr241Met SNP was genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The genotype and allele frequencies of Thr241Met polymorphism were not statistically significant between the laryngeal cancer and control groups. Carrying mutant allele was not associated with the risk of laryngeal cancer. On the other hand, smoking and chronic alcohol consumption were associated with the risk of laryngeal cancer but there is no association between Thr241Met, smoking and alcohol consumption in laryngeal cancer cases. These results indicate that Thr241Met polymorphism was not associated with the development of laryngeal cancer in Turkish population. However, it should be kept in mind that the association of a polymorphism with cancer susceptibility can differ due to several factors such as cancer type, selection criteria, ethnic differences and size of the studied population.Diskapi Yildirim Beyazit Training and Research Hospital BAP FoundationDiskapi Yildirim Beyazit Training & Research Hospital [41/3]This study was supported by Diskapi Yildirim Beyazit Training and Research Hospital BAP Foundation (# 41/3). The authors of this study declare that they have no conflict of interest