Pathological diagnosis and molecular alternations of pulmonary mucinous adenocarcinoma / 中国综合临床

Primary pulmonary mucinous adenocarcinoma is a rare subtype of lung adenocarcinoma. It differs from non-mucinous adenocarcinoma in etiology, pathogenesis, clinical, imaging, histological, immunophenotypic and genotypic features, prognosis and treatment. pulmonary mucinous adenocarcinoma mainly originates from bronchial basal cells and mucous cells. Tumor cells show a goblet and/or columnar cell morphology with abundant intracytoplasmic mucin and basally oriented nuclei, with a typical lepidic-predominant growth, the commonest molecular alterations are KRAS mutations.

Research on the teaching practice of medical molecular genetics / 中华医学教育探索杂志

Medical molecular genetics has the complex content and rapidly renewed information, and is difficult to learn and to teach. Therefore, this study explores and summarizes the teaching methods of medical molecular genetics in the postgraduate courses of clinical medicine and in the teaching of interns: paying attention to both basic theory and discipline integration; introducing clinical cases to stimulate the active learning; encouraging online reading to obtain the renewed knowledge; and enlightening the creative thinking through the combination of teaching and research. The results showed that students have more interest and enthusiasm in learning and can think more independently and innovatively. The basic theory and clinical application of molecular genetics have been also analyzed. The questionnaire showed that the teaching satisfaction reaches 97% (152/157).

Glioneuronal and neuronal tumors: A review with special reference to the new types in the WHO CNS5 classification

Glioneuronal and neuronal tumors (GNTs) are slow-growing lower-grade neuroepithelial tumors with mature neuronal and, less consistently, glial differentiation. Their identification has relied solely on histological proof of neuronal differentiation, which was considered to represent the well-differentiated nature of GNTs. However, after discovering the genetic alterations in GNTs, particularly those in the MAP-kinase pathway, it became evident that histological diagnoses are not always concurrent with genetic alterations and vice versa. Furthermore, since several inhibitors mediating the MAP-kinase pathway are available, at least for clinical trials, molecular-based classification is now warranted. Thus, the upcoming WHO Classification of Central Nervous System Tumors, 5th edition (WHO5CNS) applied DNA methylation profiling to segregate low-grade neuroepithelial tumors. This review gives an overview of the pathological features of GNTs with particular reference to the newly listed tumor types in WHO5CNS. The knowledge and awareness of each tumor type are essential to make a correct diagnosis and avoid unnecessary radical resection and chemoradiotherapy, as GNTs are relatively indolent and have a prolonged clinical course. In addition, being distinctive in location, age group, and histology, the integration of clinicopathological information will help identify relevant tumor types of GNTs without genetic testing, even in resource-limited settings.

Interplay of Oxidative Stress and Nitric Oxide Synthase Gene Expression on Cardiovascular Responses in Preeclampsia / Interação do estresse oxidativo e da expressão dos genes das óxido nítrico sintases nas respostas cardiovasculares na pré-eclâmpsia

Abstract Objective To assess the influence of oxidative stress on the gene expression of nitric oxide synthases (NOS 3 and NOS 2) and, hence, the cardiovascular responses in preeclampsia. Methods This was a case control study in which patients with preeclampsia (PE group) and normal pregnancy controls (NP group) were included according to the guidelines of the American College of Obstetricians and Gynecologists (ACOG). The serum levels of malondialdehyde (MDA), total antioxidant capacity, and nitric oxide (NO) were estimated, and the heart rate andmean arterial pressure were recorded. The gene profiling of NOS3 and NOS2 was performed through real-time polymerase chain reaction (RT-PCR). The statistical analysis was performed using the Student t-test, and values of p<0.05 were considered statistically significant. Results The serum levels of malondialdehyde were increased (p<0.0001), and the total antioxidant capacity was reduced in the PE group (p=0.034), indicating oxidative stress. In the PE group, themean arterial pressure was significantly higher (p<0.0001), but the serum levels of NO did not show a statistically significant reduction (p=0.20). The gene expression profiling of NOS3 and NOS2 revealed a down regulation in the PE group by 8.49 and 51.05 times respectively. Conclusion Oxidative stress may lead to endothelial dysfunction, which could result in increased mean arterial pressure. Nitric oxide may play a role in this mechanism, but interactions with other vasoactive /biological substances cannot be overlooked, as the gene expression of NOS3 and NOS2 has been reduced.

Resumo Objetivo Avaliar a influência do estresse oxidativo na expressão genética das óxido nítrico sintases (nitric oxide synthases, NOS, em inglês; NOS 3 e NOS 2) e, consequentemente, nas respostas cardiovasculares na pré-eclâmpsia. Métodos Este foi um estudo caso-controle no qual pacientes com pré-eclâmpsia (grupo PE) e controles comgravidez normal (grupo GN) foramincluídos de acordo com as diretrizes do American College of Obstetricians and Gynecologists (ACOG). Foram estimados os níveis séricos de malondialdeído (MDA) da capacidade antioxidante total, e de óxido nítrico (nitric oxide, NO, em inglês). A frequência cardíaca e a pressão arterial média foram registradas. O perfil genético da NOS3 e da NOS2 foi feito por reação em cadeia de polimerase em tempo real (real-time polymerase chain reaction, RT-PCR, em inglês). A análise estatística foi feita utilizando-se o teste t de Student, e valores de p<0,05 foram considerados estatisticamente significativos. Resultados Os níveis séricos de malondialdeído sérico estavam aumentados (p<0,0001), e a capacidade antioxidante total, reduzida no grupo PE (p=0,034), o que indicava estresse oxidativo. No grupo PE, a pressão arterial média era significativamente maior (p<0,0001), mas os níveis séricos de NO não demostraram redução estatisticamente significativa (p=0,20). O perfil de expressão genética da NOS3 e da NOS2 revelou uma regulação negativa no grupo PE de 8,49 e 51,05 vezes, respectivamente. Conclusão O estresse oxidativo pode levar à disfunção endotelial, o que pode resultar em aumento da pressão arterialmédia. O NO pode desempenhar umpapel neste mecanismo, mas as interações com outras substâncias vasoativas/biológicas não podem ser negligenciadas, uma vez que a expressão genética da NOS3 e da NOS2 foi reduzida.

Serological and molecular study of 20 ABO subgroup samples in Shenyang, including identification of 2 ABO new alleles / 中国输血杂志

【Objective】 To study the serological characteristics and genetic background of 20 samples with ABO blood group discrepancies in Shenyang. 【Methods】 Serological test, polymerase chain reaction-sequence specific primer (PCR-SSP) and sequencing of the full coding of ABO gene and the Intron 1 were conducted in 20 samples with ABO blood group discrepancies. 【Results】 Ten subtypes (Am, Bw, Bx, B3,, A2B, AxB, A2Bw, A2Bx, AwB and ABw) were detected in 20 samples, with AB subtype as the dominant. Sixteen ABO alleles were found, including 5 common alleles (A1.01, A1.02, B. 01, O. 01.01 and O. 01.02), nine rare alleles (AW.37, BW.03, BW.08, B3.07, cisAB.02, cisAB.03, cisAB.06, BA.04 and O. 01.04) and two novel alleles (AM.03 and cisAB.07). The AM.03 allele had a nucleotide change at position 912 (C to A) compared with A1.02 allele, which resulted in an amino acid substitution (S304R). The cisAB.07 allele was observed a missense mutation at position 797 (T to C) which resulted in an amino acid substitution (M266R) compared with B. 01 allele. The serologic had been changed, and both A antigen and B antigen were expressed. 【Conclusion】 The study revealed the genetic background of 20 samples with ABO blood group discrepancies, and two new alleles as ABO*AM.03 (912 C to A) and ABO*cisAB.07 (797 T to C) were first reported.

LG-ESSs and HG-ESSs: underlying molecular alterations and potential therapeutic strategies / 浙江大学学报（英文版）（B辑：生物医学和生物技术）

Endometrial stromal tumors (ESTs) include endometrial stromal nodule (ESN), low-grade endometrial stromal sarcoma (LG-ESS), high-grade endometrial stromal sarcoma (HG-ESS), and undifferentiated uterine sarcoma (UUS). Since these are rare tumor types, there is an unmet clinical need for the systematic therapy of advanced LG-ESS or HG-ESS. Cytogenetic and molecular advances in ESTs have shown that multiple recurrent gene fusions are present in a large proportion of LG-ESSs, and HG-ESSs are identified by the tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon (

Molecular genetics of medicinal plants, past achievement, and new era / 中国中药杂志

Unraveling the genetic basis of medicinal plant metabolism and developmental traits is a long-standing goal for pharmacologists and plant biologists. This paper discusses the definition of molecular genetics of medicinal plants, which is an integrative discipline with medicinal plants as the research object. This discipline focuses on the heredity and variation of medicinal plants, and elucidates the relationship between the key traits of medicinal plants(active compounds, yield, resistance, etc.) and genotype, studies the structure and function, heredity and variation of medicinal plant genes mainly at molecular level, so as to reveal the molecular mechanisms of transmission, expression and regulation of genetic information of medicinal plants. Specifically, we emphasize on three major aspects of this discipline.(1)Individual and population genetics of medicinal plants, this part mainly highlights the genetic mechanism of the domestication, the individual genomics at the species level, and the formation of genetic diversity of medicinal plants.(2)Elucidation of biosynthetic pathways of active compounds and their evolutionary significance. This part summarizes the biosynthesis, diversity and molecular evolution of active compounds in medicinal plants.(3) Molecular mechanisms that shaping the key agronomic traits by internal and external factors. This part focuses on the accumulation and distribution of active compounds within plants and the regulation of metabolic network by environmental factors. Finally, we prospect the future direction of molecular genetics of medicinal plants based on the rapid development of multi-omics technology, as well as the application of molecular genetics in the future strategies to achieve conservation and breeding of medicinal plants and efficient biosynthesis of active compounds.

El paciente hemofílico: consideraciones clínicas y moleculares de importancia para el odontólogo / Hemophilic patients: clinical and molecular considerations of interest to dentists

RESUMEN Introducción: La hemofilia es una enfermedad genética poco frecuente en la consulta odontológica. En algunas situaciones se presenta como una urgencia odonto-estomatológica, en la que el profesional debe relacionar las manifestaciones clínicas generales de la enfermedad, con una correcta semiología, paraclínicos y análisis genético-molecular, para diagnosticar y aplicar pertinentes terapéuticas dirigidas a resolver el motivo de consulta del paciente así como el manejo y control de sus complicaciones. Objetivo: Describir los principales aspectos fisiopatológicos generales y de importancia odontológica de la hemofilia, así como las herramientas diagnósticas desde el punto de vista clínico, paraclínico y genético-molecular. Métodos: Búsqueda bibliográfica en las bases de datos Pubmed, Proquest, Scielo y Elsevier, en idioma inglés y español, en las que se seleccionaron artículos publicados en un periodo de 13 años para un total de 50 (2005-2018), empleando los descriptores "hemophilia A, hemophilia B, diagnostic criteria, genetic, molecular, oral health, clinical diagnosis". Análisis e integración de la información: Los estudios han demostrado que la hemofilia, una condición genética y sistémica, tiene repercusiones bucales en el contexto de sus manifestaciones y complicaciones, lo que la hace importante para el odontólogo, debido a que debe ser diagnosticada desde el punto de vista genético-molecular y manejada interdisciplinariamente. Conclusiones: La implicación del diagnóstico genético-molecular por parte del genetista soporta la integración del hematólogo y el odontólogo para el manejo y control de la interconsulta cuando se trata de pautar procedimientos en pacientes con hemofilia(AU)

ABSTRACT Introduction: Hemophilia is a genetic disease scarcely found in dental practice. On occasion it presents as a dental emergency in face of which the professional should relate the general clinical manifestations of the disease to an appropriate semiological, paraclinical and genetic-molecular analysis to diagnose the condition and apply relevant therapies aimed at solving the patient's main concern as well as managing and controlling its complications. Objective: Describe the main general pathophysiological features and aspects of dental interest of hemophilia, as well as the diagnostic tools related to the condition from a clinical, paraclinical and genetic-molecular perspective. Methods: A bibliographic search was conducted in the databases Pubmed, Proquest, Scielo and Elsevier of papers published in English and Spanish in a period of 13 years (2005-2018), using the search terms "hemophilia A", "hemophilia B", "diagnostic criteria", "genetic", "molecular", "oral health", "clinical diagnosis". A total 50 papers were selected. Data analysis and integration: Studies have shown that hemophilia, a genetic systemic condition, may have oral manifestations and complications. This makes it important to dentists, since the disease should be diagnosed from a genetic-molecular point of view and managed in an interdisciplinary manner. Conclusions: Genetic-molecular diagnosis by geneticists implies involvement of hematologists and dentists in the management and control of the condition via interconsultation, when it comes to deciding on procedures for hemophilic patients(AU)

Molecular genetics research of medicinal plants / 中国中药杂志

With the development of various biotechnology,the research on molecular genetics of medicinal plants has gradually deepened. In this paper,the research system of molecular genetics of medicinal plants was proposed for the first time,which was elaborated from the aspects of genetic resources,genome,gene function and research methods. The application fields of medicinal plant mainly contain species identification,molecular breeding and biosynthesis. The research directions of molecular genetics of medicinal plants in genetic resources,model platform,synthetic biology and molecular breeding were put forward,which include 1 000 genome projects of medicinal plants,model species and mutant libraries,gene original libraries of heterologous synthetic systems,construction gene original library and specific chassis cells in heterologous synthesis system of active ingredient,breeding of new varieties of medicinal plants with high active ingredient and high resistance based on molecular markers andtransgenes.

The apoptotic, angiogenic and cell proliferation genes CD63, S100A6 e GNB2L1 are altered in patients with endometriosis / Os genes apoptóticos, angiogênicos e de proliferação celular CD63, S100A6 e GNB2L1 estão alterados em pacientes com endometriose

Abstract Objective The aim of the present study was to analyze the expression of the CD63, S100A6, and GNB2L1genes, which participate in mechanisms related to the complex pathophysiology of endometriosis. Methods A case-control study was conducted with 40 women who were diagnosed with endometriosis, and 15 fertile and healthy women. Paired samples of eutopic endometrium and endometriotic lesions (peritoneal and ovarian endometriotic implants) were obtained from the women with endometriosis in the proliferative (n = 20) or secretory phases (n = 20) of the menstrual cycle. As controls, paired endometrial biopsy samples were collected from the healthy women in the proliferative (n = 15) and secretory (n = 15) phases of the samemenstrual cycle.We analyzed the expression levels of the CD63, S100A6, and GNB2L1 genes by real-time polymerase chain reaction. Results An increase in CD63, S100A6, and GNB2L1 gene transcript levels was observed in the ectopic implants compared with the eutopic endometrium of the women with and without endometriosis, regardless of the phase of the menstrual cycle. Conclusion These findings suggest that the CD63, S100A6, and GNB2L1 genesmay be involved in the pathogenesis of endometriosis, since they participate in mechanisms such as inhibition of apoptosis, angiogenesis and cell proliferation, which lead to the loss of cell homeostasis in the ectopic endometrium, thus contributing to the implantation and survival of the tissue in the extrauterine environment.

Resumo Objetivo O objetivo do presente estudo foi analisar a expressão dos genes CD63, S100A6 e GNB2L1, que participam em mecanismos relacionados à complexa fisiopatologia da endometriose. Métodos Um estudo caso-controle foi realizado com 40 mulheres diagnosticadas com endometriose e 15 mulheres férteis e saudáveis. Amostras pareadas de endométrio eutópico e de lesões endometrióticas (implantes endometrióticos peritoneais e ovarianos) foram obtidas de mulheres com endometriose nas fases proliferativa (n = 20) ou secretora (n = 20) do ciclo menstrual. Como controle, amostras pareadas de biópsia endometrial foram coletadas de mulheres saudáveis nas fases proliferativa (n = 15) e secretora (n = 15) nomesmo ciclomenstrual. Foram analisados os níveis de expressão dos genes CD63, S100A6 e GNB2L1 por reação em cadeia da polimerase em tempo real. Resultados Foi observado um aumento nos níveis de transcritos dos genes CD63, S100A6 e GNB2L1 em implantes ectópicos quando comparado ao endométrio eutópico de mulheres com e sem endometriose, independente da fase do ciclo menstrual. Conclusão Estes achados sugerem que os genes CD63, S100A6 e GNB2L1 podem estar envolvidos na patogênese da endometriose, pois participam de mecanismos como inibição de apoptose, angiogênese e proliferação celular, os quais levam à perda da homeostase celular no endométrio ectópico e, portanto, contribuem para o implante e a sobrevivência do tecido no ambiente extrauterino.

Molecular genetics of BCR-ABL1 negative myeloproliferative neoplasms in India

Introduction: Over the past decade, we have moved on from a predominantly morphological and clinical classification of myeloproliferative neoplasms (MPN) to a more evolved classification that accounts for the molecular heterogeneity that is unique to this subgroup of hematological malignancies. This usually incorporates mutations in Janus kinase 2 (JAK2), MPL, and calreticulin (CALR) genes. In this manuscript, we report the frequency of these mutations in a cohort of Indian patients at a tertiary cancer center. Materials and Methods: One hundred and thirty cases of MPN were included in this study. These cases were diagnosed and classified based on the World Health Organization 2008 criteria. JAK2 and MPL mutations were detected using high sensitivity allele-specific polymerase chain reaction using fluorescent labeled primers followed by capillary electrophoresis. A subset of JAK2 and CALR mutations were assessed using a fragment length assay. Results: Among the MPN, we had 20 cases of polycythemia vera (PV), 34 cases of essential thrombocythemia (ET), and 59 of myelofibrosis (MF). JAK2, MPL, and CALR mutations were mutually exclusive of each other. Seventeen cases were categorized as MPN unclassifiable (MPN-U). JAK2p.V617F and MPL mutations were present in 60% (78 of 130) and 5.3% (7 of 130) of all MPN. All the PV cases harbored the JAK2 p.V617F mutation. A total of 23.8% (31 of 130) of patients harbored CALR mutations. CALR exon 9 mutations were detected in 60.8% (14 of 23) and 50% (5 of 10) of JAK2 and MPL negative MF and ET cases, respectively. MPN-U cases included three JAK2 p.V617F positive, two MPL p.W515 L, and 12 CALR positive cases. Ten different types of CALR indels (8 deletions and 2 insertions) were detected of which Type I and Type II mutations were the most common, occurring at a frequency of 45.1% (14 of 31) and 22.5% (7 of 31), respectively. Discussion and Conclusion: We report frequencies of JAK2 p. V617F, MPL exon 10 and CALR mutations in 130 patients similar to those reported in western literature. These mutations carry not only diagnostic but also prognostic relevance.

Report on the External Quality Assessment Scheme for Molecular Diagnostics in Korea (2017)

Quality control for genetic analysis has become more important with a drastic increase in testing volume and clinical demands. The molecular diagnostics division of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials in 2017 on the basis of molecular diagnostics surveys, involving 53 laboratories. The molecular diagnostics surveys included 37 tests: gene rearrangement tests for leukemia (BCR-ABL1, PML-RARA, AML1-ETO, and TEL-AML1), genetic tests for Janus kinase 2, FMS-like tyrosine kinase 3-internal tandem duplication, FMS-like tyrosine kinase 3-tyrosine kinase domain, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-raderd Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. Molecular genetic surveys revealed excellent results for most participants. The external quality assessment program for genetic analysis in 2017 proved useful for continuous education and the evaluation of quality improvement.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

Legal and Ethical Issues Involved in the Application of Molecular Genetics Examination in the Genomic Era / 中国医学伦理学

Advances in cell and molecular genetics have contributed to the development of human genetic re-search and personalized medicine. The enhanced capacity of the new DNA sequencing technologies, especially the high-throughput sequencing, is not only reducing the cost of sequencing but is also enabling some new questions. The potential utilization of whole exome sequencing ( WES) and whole genome sequencing ( WGS) is increasing in the research and clinical setting. And there is a potential for the genetic counselors' of recognition and reporting of incidental or secondary findings unrelated to the indication for ordering but of medical value for patient care, which inevitably create prominent legal and ethical issues. In addition, the internet increases the risk of private informa-tion and genetic information disclosure both for research and clinical practice. Moreover, these questions maybe more significant when commercial tests in multiplex genetic profiles are currently being provided to consumerswith-out the physicians' consultation, referred to as direct-to-consumer genetic tests ( DTCgt) . Existing laws, regula-tions and guidelines in China mostlycontrol and standardize technical aspects. Special regulations and rules for ge-netic arrangement and results explaining and interpretation remain needed; besides, the qualification of relevant personnel. The molecular genetic testing-related stakeholders include the providers, professional practitioners, and consumers &subjects, should realize these problems. Governments and professional organizations should produce policies, guidelines, and recommendations for the related stakeholders, such as testing providers andconsultants, to minimize the risks, and maximize the advantages of molecular genetic technologies, thus promote precision medi-cine and personalized therapy and disease prevention.

Malignant Brain Tumours in Children : Present and Future Perspectives

In contrast to many of the malignant tumors that occur in the central nervous system in adults, the management, responses to therapy, and future perspectives of children with malignant lesions of the brain hold considerable promise. Within the past 5 years, remarkable progress has been made with our understanding of the basic biology of the molecular genetics of several pediatric malignant brain tumors including medulloblastoma, ependymoma, atypical teratoid rhabdoid tumour, and high grade glioma/diffuse intrinsic pontine glioma. The recent literature in pediatric neuro-oncology was reviewed, and a summary of the major findings are presented. Meaningful sub-classifications of these tumors have arisen, placing children into discrete categories of disease with requirements for targeted therapy. While the mainstay of therapy these past 30 years has been a combination of central nervous system irradiation and conventional chemotherapy, now with the advent of high resolution genetic mapping, targeted therapies have emerged, and less emphasis is being placed on craniospinal irradiation. In this article, the present and future perspective of pediatric brain malignancy are reviewed in detail. The progress that has been made offers significant hope for the future for patients with these tumours.

Presence of t(14; 18) translocation in healthy individuals varies according to ethnic background in the Brazilian population

Several groups have demonstrated that healthy individuals can present the t(14;18) translocation. In this report, the presence of the translocation was examined in healthy blood donors in Brazil, a country considered an ethnic melting pot. The translocation was detected by nested PCR in 227 peripheral blood samples from individuals with different ethnic backgrounds. The t(14;18) translocation was found in 45 of 85 White individuals (52.94%); in 57 of 72 Black individuals (79.17%); and in 68 of 70 individuals (97.14%) of Japanese-descent. In conclusion, the frequency of the t(14;18) translocation in the Brazilian population varies according to the ethnic background.

Molecular genetics and prognosis of lung cancer in young patients: Research highlights / 解放军医学杂志

Differed from the elderly patients with lung cancer,the younger patients with lung cancer,less than 50 years old,present unique clinical features.Recently,the incidence of lung cancer in young people has shown a rising trend,making the research on this field more valuable.At present,molecular targeted therapy is one of the most popular areas of non-small-cell lung cancer (NSCLC),and researches are focused on the epidermal growth factor receptor (EGFR) and echinoderm microtubule associated protein like4-anaplastic lymphoma kinase (EML4-ALK).In addition,the previous researches revealed the differences between the young and elderly patients with lung cancer on molecular genetics and prognosis,so the researches on prognostic factors for young patients with lung cancer are of great clinical significance.The present paper will focus on the aspects of pathogenesis,molecular genetics and prognosis in young patients with lung cancer.

Expression of E-cadherin and β-catenin in thymomas and their significance / 临床与实验病理学杂志

Purpose To discuss the expression of E-cadherin and β-catenin proteins and genes in non-invasive and invasive group of thymoma.Methods The 120 paraffin embedded thymoma tissues from Dongguan People's Hospital from 2012 to 2016 were being divided into non-invasive group and invasive group based on performance under the microscope,Masaoka clinical staging methods and clinical imaging data.These cases were also being used for immunohistochemical (IHC) tests and gene fluorescence in situ hybridization(FISH) of E-cadherin and β-catenin.Results 55 cases were included in invasive group and 65 cases in non-invasive group.Antibodies and IHC tests were used to examine the expression of E-cadherin and β-catenin in 120 cases of thymoma.The expression difference of E-cadherin and β-catenin protein in non-invasive and invasive thymoma had statistical significance (P ＜ 0.05).In non-invasive and invasive thymoma cases,difference among groups of E-cadherin regrading gene expression deletion had statistical significance (P＜ 0.05).Difference among groups in β-catenin expression also had statistical significance (P ＜ 0.05).Conclusion IHC tests of E-cadherin and β-catenin protein and FISH tests of E-cadherin and β-catenin gene indicate that there are significances in differential diagnosis between the non-invasive and invasive thymomas.

Progress in molecular genetics of hyperphenylalanemia / 国际儿科学杂志

Hyperphenylalaninemia is a common group of inherited metabolic diseases.It is characterized by the increased concentration of plasma phenylalanine.The metabolism of phenylalanine requires phenylalanine hydroxylase and coenzyme tetrahydrobiopterin.These enzymes cannot function normally if there is any mutation in their encoding genes.Children suffering from hyperphenylalaninemia without promptly treatment may present mental development delay and other serious nervous system sequelae.With the technical improvement of molecular genetics,there have been many progresses in the study of genetic diagnosis,genotype-phenotype correlation and gene therapy of hyperphenylalaninemia.This article reviews the history and classification of hyperphenylalaninemia,the characteristics of gene mutation,the methods of genetic diagnosis,the genotype-phenotype correlation,and the progress of new therapy.

Commentary of WHO classification in odontogenic tumours (2017 edition) / 口腔疾病防治

@#The 4th edition of WHO Classification of Head and Neck Tumours has been published in Jan. 2017. In Chapter 8 ‘Odontogenic and maxillofacial bone tumours’, the classification of odontogenic tumors was recomposed from the previous edition in 2005. In this paper, we introduced the modification of odontogenic tumors classification between 2017 and 2005 in a comprehensive discussion.