Objective: To analyze the concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations detected in plasma and matched tumor tissues in colorectal cancer patients, in order to provide good evidences to support plasma could be a potential surrogate of tumor tissue for gene mutation test. Methods: One hundred and seventy-five cases of colorectal cancer were collected at the First Hospital of Jilin University, from October 2016 to October 2017.There were 101 males and 74 females, their ages ranged from 28 to 85 years,with median age of 59 years. The KRAS, NRAS, BRAF and PIK3CA gene mutations in the plasma and paired tumor specimens of all patients were detected by next generation sequencing. Results: The results of tissue samples test were gold standard. Comparison of the four genes showed that concordance rates between plasma and tissue samples were 81.1%(Kappa=0.543), 99.4%(Kappa=0.886), 99.4% (Kappa=0.886) and 97.7%(Kappa=0.714) respectively for KRAS, NRAS, BRAF and PIK3CA. The plasma detection rates of these genes were related to tumor stage(P=0.001), but not to gender(P=0.468) and age(P=1.000) of patients. Conclusions The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue. In colorectal cancer, tumor tissue remains the best specimen for gene detection. However, patients from tumor tissue specimens cannot be obtained, especially those with advanced metastases, plasma can be used instead of tissue to detect the mutation status of KRAS, NRAS, BRAF and PIK3CA to guide targeted therapy.

Objective To analyze the concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations detected in plasma and matched tumor tissues in colorectal cancer patients, in order to provide good evidences to support plasma could be a potential surrogate of tumor tissue for gene mutation test. Methods One hundred and seventy?five cases of colorectal cancer were collected at the First Hospital of Jilin University, from October 2016 to October 2017.There were 101 males and 74 females, their ages ranged from 28 to 85 years,with median age of 59 years. The KRAS, NRAS, BRAF and PIK3CA gene mutations in the plasma and paired tumor specimens of all patients were detected by next generation sequencing. Results The results of tissue samples test were gold standard. Comparison of the four genes showed that concordance rates between plasma and tissue samples were 81.1%(Kappa=0.543), 99.4%(Kappa=0.886), 99.4% (Kappa=0.886) and 97.7%(Kappa=0.714) respectively for KRAS, NRAS, BRAF and PIK3CA. The plasma detection rates of these genes were related to tumor stage(P=0.001), but not to gender(P=0.468) and age(P=1.000) of patients. Conclusions The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue. In colorectal cancer, tumor tissue remains the best specimen for gene detection. However, patients from tumor tissue specimens cannot be obtained, especially those with advanced metastases, plasma can be used instead of tissue to detect the mutation status of KRAS, NRAS, BRAF and PIK3CA to guide targeted therapy.

Objective To investigate the clinical and laboratory features of IgG-2κ light chain multiple myeloma. Methods The clinical data and laboratory results of 2 multiple myeloma (MM) patients with IgG-2κ light chain were analyzed and the related literatures were reviewed. Results Two male and 1 female patients were 50-82 years old and mainly suffered with backache, infection, anemia and renal dysfunction. Multiple osteolytic bone destruction was detected in X-ray as well as magnetic resonance imaging (MRI). The level of serum IgG was normal, slight or obviously increased, but the levels of IgA and IgM were decreased. The levels of κ light chain in serum and urine were both increased significantly, and Bence-Jones protein was positive. Double M protein peaks of serum in γ area were detected by protein electrophoresis in 2 patients. A single band of IgG and double bands of light chain κ were revealed by immunofixation electrophoresis. Bone marrow smear showed that abnormal plasma cells were increased obviously. One patient gave up chemotherapy because of lung infection, acute left heart failure and acute renal failure, the others 2 patients achieved partial remission and stable disease by receiving DVD and VAD chemotherapy. Conclusions IgG-2κ light chain MM lacks typical clinical presentation, but some laboratory characteristics may be different from those of IgG-κ light chain. Further researches are needed to confirm whether or not it belongs to biclonal MM.

Objective: To investigate the effects of hypoxia on osteogenic differentiation of periodontal ligament cells (PDLCs) and the role of hypoxia inducible factor-1α (HIF-1α) in this process. Methods : Human PDLCs were isolated and identified by checking the expression of vimentin and cytokeratin. PDLCs were cultured in normoxia (20% O2) or hypoxia (1% O2) for 12-72 h. Changes of alkaline phosphatase (ALP) activity and mRNA expressions of osteogenic markers ALP, collagen-I (COL1) and runt related transcription factor 2 (RUNX2) were detected. Western blot was used to detect the expression of HIF-1α. After transfected with HIF1α-siRNA, the expressions of HIF-1αand osteogenic differentiation markers were furthered detected. The statistics were analyzed with SPSS13.0. Results: Positive vimentin but negative cytokeratin were observed in primary cultured PDLCs. ALP activity and mRNA expressions of ALP, COL1 and RUNX2 were decreased in PDLCs in hypoxia for 48 h, while HIF-1α expression was increased. After knocking down of HIF-1α with siRNA, HIF-1α was significantly reduced in PDLCs under hypoxia, while ALP activity and mRNA expressions of osteogenic markers were significantly increased. Conclusion Hypoxia may inhibit osteogenic differentiation of PDLCs via upregulated HIF-1α.

Objective To evaluate the clinical effects of ultrasonography for structural examination in the diagnosis of fetal brain malformation and neural tube defects ( NTDs ) in early pregnancy . Methods A retrospective study was conducted to analyse 6 630 cases taking obstetric examination in Dongguan Maternal and Child Health Hospital from February 2014 to June 2015. The examination included a standardized ultrasound structural examination at 11-13 plus 6 weeks of pregnancy. The autopsied results of the induced fetus in early pregnancy from craniocerebral and neural tube structure malformation were investigated. All the cases were followed up concerning the outcomes and the malformation detection rate was calculated for analysis. Results The detection rates of exencephalus and anencephalus, holoprosencephaly, aphylly-holoprosencephaly, rachischisis, open spina bifida, and meningocele were 100%, 80%, 100%, 42.9%, 50% and 100%, respectively. The malformations which was missed in the early pregnancy but detected in the later gestational ages included:Dandy-Walker Syndrome, most of the non-open spina bifida, hypoplasia of the corpus callosum, foliaceous-holoprosencephaly and ventriculomegaly. Conclusions The structural examination using ultrasonography at early pregnancy is effective in the detection of severe open-neural tube defects. It′s worth generalizing in the cliical diagnosis but part of fetal malformations still need a further ultrasound examination in the mid-gestation or the later gestation.

Objective To investigate the feasibility and efifcacy of endoscopic submucosal dissection (ESD) for gastrointestinal neuroendocrine neoplasms (GI-NENs).Methods 52 patients with conifrmed histological diagnosis of GI-NENs performed ESD from January 2011 to December 2015 were included. The endoscopic morphology of tumor was summarized. Complete resection rate, complications, clinicopathological characteristics, and follow-up results were evaluated.Results There were 16 cases of stomach, 9 cases of colon and rectum 27 cases. Most of the lesions were submucosal uplift. A few of lesions looked like polyps. All the lesions were one-time whole diseased. 44 lesions were NET-G1, 8 lesions were NET-G2. Complete resection rate was 94.23%. 2 cases of rectal lesions infringemented intrinsic muscle layer, and got additional surgery. 1 case of rectal perforation, which was managed by endoscopic treatment and conservative treatment. All cases did not appear haemorrhage. During a mean follow-up period of 22.6 months, local recurrences occurred in 1 case of stomach, and treated with second line ESD. No cases lymph node and distant metastasis were found.Conclusion ESD appears to be a feasible, safe and effective treatment for GI-NENs with strict endoscopic treatment indications.

Gastrointestinal Stromal Tumors ; genetics ; pathology ; Genotype ; Humans

Objective To explore the efficacy and adverse reactions of improved VTD regimen (pirarubicin combined with vincristine and dexamethasone) plus low-dose thalidomide in patients of newly diagnosed multiple myeloma(MM).Methods Twenty-nine cases of newly diagnosed MM were enrolled in this study.The improved VTD regimen was intravenous injection vincristine 2 mg/d on the first day,intravenous drip pirarubicin 20-30 mg/d from the first day to the second day,and intravenous drip dexamethasone 8 mg/d from the first day to the tenth day.Twenty-eight days was one course of treatment.Response and adverse reactions were evaluated after 4 course of treatment.On the first day of chemotherapy,all the patients were orally administered thalidomide 50 mg/d.Three days later,thalidomide was added to 100 mg/d and chronically maintained if toxicities could be tolerated.Results There were 3 cases(10.3％) in complete response,12 cases (41.2％) in very good partial response,10 cases (34.5％) in partial response,3 cases (10.3％) in stable disease,and 1 case(3.5％) in progressive disease.The overall response rate was 86.2％.Main adverse reactions were myelosuppression,asthenia and constipation,all could be tolerated.Conclusion It has significant response rate and less side effects of improved VTD regimen plus low-dose thalidomide for the patients of newly diagnosed multiple myeloma,and deserves further clinical practice.

Adenocarcinoma ; genetics ; metabolism ; pathology ; Biopsy ; CD56 Antigen ; metabolism ; DNA-Binding Proteins ; metabolism ; Gene Deletion ; Humans ; Keratin-7 ; metabolism ; Lung Neoplasms ; genetics ; metabolism ; pathology ; Male ; Middle Aged ; Receptor, Epidermal Growth Factor ; genetics ; metabolism ; Small Cell Lung Carcinoma ; genetics ; metabolism ; pathology ; Synaptophysin ; metabolism ; Transcription Factors