KIT exon 11 codon 557/558 deletion/insertion mutations define a subset of gastrointestinal stromal tumors with malignant potential

AIM： To study the association of the frequency and pattern of KIT and PDGFRA mutations and clinicopathological factors in a group of patients with gastrointestinal stromal tumors （GIST）. METHODS： Thirty patients with GIST were examined. Exons 9, 11, 13, and 17 of the KIT and exons 12 and 18 of the PDGFRA gene were analyzed for the presence of mutations by PCR amplification and direct sequencing. RESULTS： KIT or PDGFRA mutations were detected in 21 of the 30 patients （70%）. Sixteen patients had mutations within KIT exon 11, three within KIT exon 9, and two within PDGFRA exon 18. GISTs with KIT exon 9 mutations were predominantly located in the small intestine, showed a spindle cell phenotype, and were assessed as potentially malignant. GISTs with KIT exon 11 mutations were located in the stomach and intestine, showed mainly a spindle cell phenotype, and were scored as potentially malignant （P 〈 0.05）. Tumors with KIT exon 11 codon 557/558 deletion/insertion mutations were found to be associated with a potentially malignant clinical behaviour （P 〈 0.003）. GISTs with PDGFRA mutations located in stomach showed a mixed cell phenotype and were classified as of very low or low moderate malignant potential. CONCLUSION： Determination of KIT and PDGFRA mutations should be additional parameters for the better prediction of GISTs clinical behaviour. Tumors with deletion/insertion mutations affecting codons 557/558 of the KIT gene seem to represent a distinct subset of malignant GISTs.     

Translocation (X;12)(p11;p13) as a sole abnormality in biphenotypic acute leukemia

A reciprocal t(X;12)(p11;p13) was found as the sole clonal abnormality in biphenotypic leukemia with myeloid and B-lymphoid differentiation. With fluorescence in situ hybridization analysis, the ETV6 gene (previously TEL) was found to be translocated intact to the derivative X chromosome; no MLL and BCR/ABL rearrangements were found. The patient achieved complete remission after induction chemotherapy. To our knowledge, this cytogenetic aberration has not been reported previously as a sole abnormality in hematological malignancies. Its presence may suggest an important role in the pathogenesis of biphenotypic leukemia.     

2015 Evidence Analysis Library Systematic Review on Advanced Technology in Food Production

In the late 20th century, plant breeders began using molecular biology techniques such as recombinant DNA, also known as genetic engineering, along with traditional cross-breeding. Ten plant and one animal food have been approved for commercialization in the United States. Today, foods and ingredients from genetically engineered (GE) crops are present throughout the food supply, which has led to varying levels of acceptance. Much discussion exists among consumers and health professionals about the believability of statements made regarding benefits or risks of GE foods. The aim of this systematic review was to examine the evidence on the association of consumption of GE foods and ingredients derived from them on human health, specifically allergenicity, food safety, pesticide consumption, nutrient adequacy, inflammation, and antibiotic resistance. An expert panel conducted a systematic review on advanced technology in food production. The 30 developed questions focused on effects of human consumption of GE foods and the effects of human consumption of foods containing pesticide residues on human health. Primary research published from 1994 to 2014 were identified using PubMed and Agricultural Online Access databases. Additional studies were identified by searching references of review articles. Twenty-one studies met the inclusion criteria. Relevant research addressed five of 30 questions. Four questions focused on food allergenicity, the fifth on nutrient adequacy, and all received a Grade III (limited/weak) rating. No human studies addressed 25 questions on the consumption of foods produced using genetic engineering technologies on gene translocation, cancer, food safety, phenotype expression, inflammation and inflammatory markers, or antibiotic resistance. These questions received a Grade V (grade not assignable). Evidence from human studies did not reveal an association between adverse health effects and consumption of foods produced using genetic engineering technologies. Although the number of available human studies is small, they support that there are no clear adverse health effects—as they relate to allergenicity and nutrient adequacy—associated with consumption of GE foods. The present systematic review is aligned with a recent report by the National Academy of Sciences that included human and animal research.     

Cervical cancer,geographical inequalities,prevention and barriers in resource depleted countries

Cervical cancer (CC) remains a current global issue, with >90% of cervical cancer cases being attributed to human papilloma virus (HPV). The highest burden of cervical cancer is reported in resource-depleted geographical areas with a high incidence of HPV infection. Recent developments in primary prevention include vaccinations against specific strains of HPV and the psychoeducation of the public. Yet, despite the availability of vaccinations, there is high incidence of both HPV and cervical cancer in developing countries, which is attributed to a multitude of barriers including inaccessibility to expensive vaccines. With regards to secondary prevention, progress is actively being made to develop more effective methods of screening and to specifically address the needs of low-income countries. In the past few years, more novel screening methods, such as self-assessment kits, immunohistochemistry and methylation marker analysis, have been developed. Barriers to screening in resource-depleted countries include limited financial resources and infrastructure to develop screening programmes, a lack of screening programmes that are accessible to populations, inadequate training of healthcare teams and stigma related to medical examinations performed as part of screening. Developing primary and secondary prevention programs, as well as addressing the barriers involved in countries with low socioeconomic levels, can drastically reduce morbidity and mortality rates associated with cervical cancer, thus reducing the burden associated with this gynaecological malignancy.     

Automated 3D Ιnterstitial Lung Disease Εxtent Quantification: Performance Evaluation and Correlation to PFTs

In this study, the performance of a recently proposed computer-aided diagnosis (CAD) scheme in detection and 3D quantification of reticular and ground glass pattern extent in chest computed tomography of interstitial lung disease (ILD) patients is evaluated. CAD scheme performance was evaluated on a dataset of 37 volumetric chest scans, considering five representative axial anatomical levels per scan. CAD scheme reliability analysis was performed by estimating agreement (intraclass correlation coefficient, ICC) of automatically derived ILD pattern extent to semi-quantitative disease extent assessment in terms of 29-point rating scale provided by two expert radiologists. Receiver operating characteristic (ROC) analysis was employed to assess CAD scheme accuracy in ILD pattern detection in terms of area under ROC curve (A_z). Correlation of reticular and ground glass volumetric pattern extent to pulmonary function tests (PFTs) was also investigated. CAD scheme reliability was substantial for ILD extent (ICC = 0.809) and distinct reticular pattern extent (0.806) and moderate for distinct ground glass pattern extent (0.543), performing within inter-observer agreement. CAD scheme demonstrated high accuracy in detecting total ILD (A_z = 0.950 ± 0.018), while accuracy in detecting distinct reticular and ground glass patterns was 0.920 ± 0.023 and 0.883 ± 0.024, respectively. Moderate and statistically significant negative correlation was found between reticular volumetric pattern extent and diffusing capacity, forced expiratory volume in 1 s, forced vital capacity, and total lung capacity (R = −0.581, −0.513, −0.494, and −0.446, respectively), similar to correlations found between radiologists’ semi-quantitative ratings with PFTs. CAD-based quantification of disease extent is in agreement with radiologists’ semi-quantitative assessment and correlates to specific PFTs, suggesting a potential imaging biomarker for ILD staging and management.     

Detection of genetic alterations in primary bladder carcinoma with dual-color and multiplex fluorescence in situ hybridization

Cytogenetic studies of bladder cancer have shown several nonrandom aberrations. Numerical aberrations of both sex chromosomes were investigated in 32 primary bladder tumors with bicolor fluorescence in situ hybridization (FISH). Loss of chromosome Y and overrepresentation of chromosome X were observed in subgroups of male patients. Chromosome X was represented normally in female patients. Two of the above primary bladder tumors, a transitional cell carcinoma (TCC) and an adenocarcinoma, were further analyzed with both multiplex FISH (24-color M-FISH) and G-banding. Both cases exhibited 1) common breakpoints on 5q11 approximately q12 and 15q24; 2) involvement of the pericentromeric area of chromosome 13; 3) structural abnormalities of chromosomes 8 and 17, with loss of material on the short arm; 4) structural abnormalities involving chromosome 11; and 5) loss of chromosome Y. The TCC case also exhibited structural abnormalities of chromosome 9, resulting in loss of 9q. The combined G-banding and M-FISH findings could help reveal regions potentially involved in bladder tumorigenesis.     

Multiple liver abscesses associated with bacteremia due to Leuconostoc lactis

Leuconostoc species, which are members of the family Streptococcacae, have only recently been recognized as potential pathogens. We describe a patient with type II diabetes mellitus who had multiple liver abscesses associated with bacteremia due to Leuconostoc lactis. To our knowledge, this is the first case of this association to be reported in the literature.     

Quantification of the ionising radiation effect over angiogenesis in the chick embryo and its chorioallantoic membrane by computerised analysis of angiographic images

PURPOSE: We evaluated, in vivo, the effect of ionising radiation on the angiogenesis process in the chick embryo and its chorioallantoic membrane (CAM) using digital subtraction angiography (DSA) in conjunction with computer-assisted image analysis. Information regarding the ionising effect on endothelial cells during radiation treatment was extracted. MATERIAL AND METHODS: Two series of fertilized eggs were irradiated with a single ionising radiation dose of 10 Gy on days 9 and 13 of embryonic development. Angiography was carried out 24 h after irradiation. The angiographic images were digitized and subsequently processed. A set of specific morphological parameters was defined to allow an analytical characterization of the vascularity status. Vessels were classified into three categories according to their diameters (> or = 200 microm, 100-200 microm and 50-100 microm). The data were normalized and statistically evaluated. RESULTS: On day 10, total vascular area and total vascular length presented a 15.6+/-1.2% and 18.4+/-2.4% reduction, respectively, while vascular diameters increased 3.3+/-0.5%. The vessel area and length of the first category > or = 200 microm) increased 9.8+/-1.1% and 8.1+/-0.9%, respectively, while these morphometric parameters for each of the remaining two categories decreased 44.3+/-2.9%, 38.7+/-4.2% and 45+/-3.8%, 30.7+/-3.4%, respectively. On day 14 insignificant changes were observed. CONCLUSION: Computerised analysis of angiographic images showed that the antiangiogenic effect of irradiation during the various phases of CAM development is larger on the 10th day than that observed on day 14 and it depends on the vessel size.     

Dorsal extradural thoracic disc fragment: a diagnostic challenge

Dorsal epidural migration of an extruded disc fragment is an infrequent event, especially in the thoracic spine. An uncommon case involving a 55-year-old man is presented, with a 1-month history of paraparesis and thoracolumbar pain. Magnetic resonance imaging demonstrated a dorsally located, extramedullary mass at the T10-T11 intervertebral level. The lesion was suspected to be a tumor. The patient underwent a T10-T11 laminectomy. Intraoperatively, an encapsulated mass of soft tissue adherent to the dural sac was found. The pathologic diagnosis was inflammatory tissue and disc material. Six months after the operation, the patient remained asymptomatic, and radiologic control showed no residual mass. Although rare, a sequestered disc fragment should be included in the differential diagnosis of an enhancing posterior extramedullary thoracic mass. Preoperative diagnosis of such pathology is difficult because the clinical signs and radiologic images may not entirely exclude other more common thoracic spinal lesions, especially tumors.