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Kit mutation

Yufang Feng, Gaohua Feng, Xiaoling Lu, Wenxia Qian, Junyi Ye, Carmen Areses Manrique, Chunping Ma, Yadong Lu
Background: The utilization of cancer-linked genetic alterations for categorizing patients against optimal treatment is becoming increasingly popular, especially in non-small cell lung cancer (NSCLC). However, disadvantages of the conventional techniques, such as the low throughput and limited detectable alteration types, lead to the demand of large-scale parallel sequencing for different forms of genetic variants. Methods: We evaluated the potential of performing next-generation sequencing (NGS)-based methods in a cohort of 61 treatment-naive NSCLC patients to profile their driver mutations, using a panel consisting of 8 well-established driver genes of lung cancer...
October 2018: Journal of Thoracic Disease
Lianhua Dong, Shangjun Wang, Boqiang Fu, Jing Wang
KRAS gene mutations are predictive markers of non-response to anti-epidermal growth factor receptor. An increasing number of techniques are being developed to detect KRAS mutations. To obtain consistent and comparable results, a traceable reference material (RM) is necessary for validation the routinely used method. However, a lack of reference methods is a main impediment for deriving traceability and measurement comparability. In this study, droplet digital PCR (ddPCR) and next generation sequencing (NGS) were evaluated...
November 30, 2018: Scientific Reports
Hong Wang, Tian-Tian Chu, Shi-Yu Han, Jia-Qian Qi, Ya-Qiong Tang, Hui-Ying Qiu, Cheng-Cheng Fu, Xiao-Wen Tang, Chang-Geng Ruan, De-Pei Wu, Yue Han
Cytogenetic and genetic changes have prognostic significance in acute myeloid leukemia (AML). In our study, we compared the cytogenetic changes and gene mutations (NPM1, CEBPA, DNMT3A, FLT3-ITD, FLT3-TKD and C-KIT) with clinical outcome in 1132 AML patients enrolled at our center over 10 years. A total of 977 patients provided gene mutation data: there were subsets of patients who exhibited mutations in NPM1 (17.9%), CEBPA (16.4%), FLT3-ITD (18.5%), FLT3-TKD (3.9%), DNMT3A (8.6%), and C-KIT (8.8%). A total of 557 patients (49...
November 29, 2018: Biology of Blood and Marrow Transplantation
Judit Bedekovics, Livia Beke, Attila Mokanszki, Szabolcs Szilagyi, Gabor Mehes
Thymic epithelial tumors (TETs) are uncommon neoplasms of the mediastinum. The gold standard treatment is complete surgical resection which can be followed by radio/chemotherapy in selected cases. Targeted tyrosine kinase inhibition can be considered in only a limited number of aggressive or metastatic tumors as EGFR, BRAF, or c-kit mutations are rare. However, previous studies have demonstrated the efficacy of immune checkpoint inhibitors in epithelial neoplasias, such as in programmed cell death ligand 1 (PD-L1) expressing nonsmall cell lung carcinoma...
November 28, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
Jens Jakob, Peter Hohenberger
Introduction: Gastrointestinal stromal tumors (GIST) are rare malignant tumors in terms of incidence, and they are not linked to specific symptoms. Often, primary tumors, particularly of the stomach, rectum, or rectovaginal space, are quite large when detected, and multivisceral resection seems to be the treatment of choice as the mainstay of therapy is complete tumor removal. If a gain-of-function mutation in the KIT gene is present, drug therapy with receptor tyrosine kinase inhibitors (RTKIs) might significantly downstage primary GIST tumors...
October 2018: Visceral Medicine
Yuqing Tu, Rui Zuo, Nan Ni, Grant Eilers, Duolin Wu, Yuting Pei, Zuoming Nie, Yeqing Wu, Yuehong Wu, Wen-Bin Ou
Oncogenic KIT or PDGFRA receptor tyrosine kinase (TK) mutations are compelling therapeutic targets in gastrointestinal stromal tumors (GISTs), and the KIT/PDGFRA kinase inhibitor, imatinib, is the standard of care for patients with metastatic GIST. However, approximately 10% of KIT-positive GIST metastases lose KIT expression at the time of clinical progression during imatinib therapy. In the present report, we performed TK-activation screens, using phosphotyrosine-TK double immunoaffinity purification and mass spectrometry, in GIST in vitro models lacking KIT expression...
November 29, 2018: Cell Cycle
Melody C Carter, Yun Bai, Karina N Ruiz-Esteves, Linda M Scott, Daly Cantave, Hyejeong Bolan, Robin Eisch, Xiaoping Sun, Jamie Hahn, Irina Maric, Dean D Metcalfe
The use of allele-specific quantitative polymerase chain reaction to identify KIT D816V in the peripheral blood of adults with mastocytosis has been reported to have value in the diagnosis, assessment of disease burden and management of this disease. To examine the value of this assay in children with cutaneous manifestations of mastocytosis, we assessed data on 65 patients with all variants of paediatric-onset mastocytosis, including those known to have systemic disease, to correlate KIT mutation status with clinical findings, serum tryptase levels and bone marrow histopathology...
December 2018: British Journal of Haematology
David Aldo De Luca, Paula Andrea Enz, Ricardo Luis Galimberti, Adriana Raquel Rinflerch
The growth factor receptor c-kit (CD117) is expressed in immature T-cells and in some advanced forms of mycosis fungoides. c-kit gene mutation results in unrestricted neoplastic proliferation. We aimed to detect by PCR the most frequent exon mutations in seventeen plaque-stage MF patients, in their perilesional skin and in healthy skin donors. We secondarily evaluated CD117 expression by immunohistochemistry in plaque-stage and tumor-stage MF. We detected no mutation in c-kit gene and low CD117 expression was confirmed on atypical cells in one patient...
November 2018: Anais Brasileiros de Dermatologia
Kristina Meichner, Matti Kiupel, Tanit Kasantikul, Pauline Rakich, Frane Banovic
BACKGROUND: Cutaneous mastocytosis (CM) is a rare disease of dogs characterized by rash, pruritus and proliferation of mast cells in the skin. Oral H1 antihistamines are recommended as the treatment to control pruritus. HYPOTHESIS/OBJECTIVE: To describe the effective treatment of pruritus associated with CM with lokivetmab in one dog. ANIMAL: A 4-year-old, spayed female cross-bred dog presented with severely pruritic, erythematous to pigmented macules and papules involving the ventral abdomen, interdigital skin, perivulval area and both pinnae; the pruritus had been unresponsive to treatment with antihistamines, prednisone and ciclosporin...
November 26, 2018: Veterinary Dermatology
Jongmin Lee, Chan Kwon Park, Hyoung-Kyu Yoon, Young Jo Sa, In Sook Woo, Hyo Rim Kim, Sue Youn Kim, Tae-Jung Kim
BACKGROUND: The aim of the current study was to investigate the prevalence and clinicopathologic characteristics of ROS1-rearranged non-small cell lung cancer (NSCLC) in routine genotypic screening in conjunction with the study of PD-L1 expression, a biomarker for first-line treatment decisions. METHODS: Reflex simultaneous genotypic screening for EGFR by peptide nucleic acid clamping, and ALK and ROS1 by fluorescence in situ hybridization (FISH) was performed on consecutive NSCLC cases at the time of initial pathologic diagnosis...
November 26, 2018: Thoracic Cancer
Kyle Devins, Stephen J Schuster, Gabriel C Caponetti, Agata M Bogusz
BACKGROUND: Extranodal NK/T-cell lymphoma, nasal type (ENKTCL-NT), is a rare aggressive subtype of non-Hodgkin lymphoma characterized by angioinvasion, angiodestruction, necrosis and strong association with Epstein-Barr virus (EBV). ENKTCL-NT occurs worldwide and is more prevalent in Asian and the Native American populations of Mexico, Central and South America. It represents approximately 10% of all peripheral T-cell lymphomas worldwide. The aim of this report is to present a rare case of ENKTCL-NT with an unusually indolent clinical course and low-grade histopathologic features...
November 23, 2018: Diagnostic Pathology
H M Gao, C Wang, S S Zhang, D J Xiao, S H Sun, Y S Wang, M X Zhang
OBJECTIVES: To analyse the genetic polymorphism of 21 autosome STR loci in Han population of Shandong Province and the cases with loci mutation or allelic loss typed by Golden e ye® DNA identification system 25A. METHODS: Totally 40 autosome STR loci types of 273 unrelated individuals in Han population of Shandong Province were typed by Golden e ye® DNA identification system 25A and 22NC, and the genetic polymorphism of 21 STR loci in those was analysed. Meanwhile, six cases with loci mutation were analysed by adding the tests with Golden e ye® DNA identification system 22NC, 20Y and 17X...
August 2018: Fa Yi Xue za Zhi
Yusaku Akashi, Daisuke Hayashi, Hiromichi Suzuki, Masanari Shiigai, Koji Kanemoto, Shigeyuki Notake, Takumi Ishiodori, Hiroichi Ishikawa, Hironori Imai
Background: Mycoplasma pneumoniae is a common pathogen causing pneumonia; macrolide-resistant strains are rapidly spreading across Japan. However, the clinical features of macrolide-resistant M. pneumoniae pneumonia have not been well established. Here, we evaluated the clinical characteristics and seasonal variations in the prevalence of M. pneumoniae with macrolide-resistant mutations (MRM). Methods: The monthly prevalence of MRM in M. pneumoniae strains isolated from May 2016 to April 2017 was retrospectively analyzed, and the clinical characteristics of pneumonia cases with MRM were compared to those of cases without MRM...
November 2018: Journal of General and Family Medicine
Na Ta, Xiaoyi Huang, Kailian Zheng, Yunshuo Zhang, Yisha Gao, Lulu Deng, Bingbing Zhang, Hui Jiang, Jianming Zheng
BACKGROUND/AIMS: MicroRNAs (miRNAs) are a group of non-coding RNAs that play diverse roles in pancreatic carcinogenesis. In pancreatic ductal adenocarcinoma (PDAC), NF-kB is constitutively activated in most patients and is linked to a mutation in KRAS via IkB kinase complex 1 (IKK1, also known as IKKa). We investigated the link between PDAC aggressiveness and miR-1290. METHODS: We used miRCURYTM LNA Array and in situ hybridization to investigate candidate miRNAs and validated the findings with PCR...
2018: Cellular Physiology and Biochemistry
Lisa W Witten, Christopher J Cheng, Frank J Slack
MicroRNAs (miRNAs) have emerged as crucial players in the development and maintenance of disease. miR-155 is an inflammation-associated, oncogenic miRNA, frequently overexpressed in hematological malignancies and solid tumors. However, the mechanism of oncogenesis by miR-155 is not well characterized, and research has focused primarily on individual, direct targets, which does not recapitulate the complexities of cancer. Using a powerful, inducible transgenic mouse model that overexpresses miR-155 and develops miR-155-addicted hematological malignancy, we describe here a multi-step process of oncogenesis by miR-155, which involves cooperation between miR-155, its direct targets, and other oncogenes...
November 20, 2018: Oncogene
Takashi Murakami, Yoichi Akazawa, Noboru Yatagai, Takafumi Hiromoto, Noriko Sasahara, Tsuyoshi Saito, Naoto Sakamoto, Akihito Nagahara, Takashi Yao
BACKGROUND: Colorectal sessile serrated adenoma/polyps (SSA/Ps) are considered early precursor lesions in the serrated neoplasia pathway. Recent studies have shown associations of SSA/Ps with lost MLH1 expression, a CpG island methylator phenotype, and BRAF mutations. However, the molecular biological features of SSA/Ps with early neoplastic progression have not yet been fully elucidated, owing to the rarity of cases of SSA/P with advanced histology such as cytologic dysplasia or invasive carcinoma...
November 20, 2018: Diagnostic Pathology
Xiaoqin Zhu, Mohammed Salhab, Keith Tomaszewicz, Xiuling Meng, Carol Mathew, Venu Bathini, Bradley Switzer, Otto Walter, Ediz F Cosar, Xiaofei Wang, Laura A Lambert, Lloyd M Hutchinson
The 8th edition of American Joint Committee on Cancer (AJCC) advocates a three-tier grading system for appendiceal mucinous tumors. The mutational profile for each tumor grade and the impact of TP53 mutation on survival is unknown.We classified appendiceal mucinous tumors into 3 grades based on the 8th edition of AJCC: 21G1 low-grade mucinous neoplasms, 21G2 appendiceal adenocarcinomas, and 26G3 signet ring cell carcinomas (SRC). Mutation profiles were obtained using next generation sequencing (NGS). The impact of TP53 on prognosis was investigated by multivariable analysis...
November 17, 2018: Human Pathology
Andrew M Lerner, Hayretin Yumerefendi, Odessa J Goudy, Brian D Strahl, Brian Kuhlman
Optogenetic techniques use light-responsive proteins to study dynamic processes in living cells and organisms. These techniques typically rely on repurposed naturally occurring light-sensitive proteins to control subcellular localization and activity. We previously engineered two optogenetic systems, the light activated nuclear shuttle (LANS) and the light-inducible nuclear exporter (LINX), by embedding nuclear import or export sequence motifs into the C-terminal helix of the light-responsive LOV2 domain of Avena sativa phototropin 1, thus enabling light-dependent trafficking of a target protein into and out of the nucleus...
November 29, 2018: ACS Synthetic Biology
Kathrin Geiger, Andreas Leiherer, Eva-Maria Brandtner, Peter Fraunberger, Heinz Drexel, Axel Muendlein
BACKGROUND: Practically, the initial step of genetic analysis is the extraction of DNA from blood or other cells, which is often time consuming and cost-intensive. We aimed at establishing a real-time PCR protocol for the detection of the venous thromboembolism associated mutations factor V Leiden (F5 c.1691G>A; p.R506Q) and prothrombin (F2) c.20210G>A from whole blood, without DNA extraction. METHODS: F5 c.1691G>A (p.R506Q) and F2 c.20210G>A mutations were determined in 205 EDTA anti-coagulated whole blood samples from patients who underwent routine clinical genotyping using the DirectBlood Genotyping PCR Kit (myPOLS Biotec, Konstanz, Germany) together with in-house developed TaqMan primer-probe assays...
November 12, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
Monika Soni, Chandrakanta Bhattacharya, Jitendra Sharma, Prafulla Dutta
Nowadays, dengue infection creates a major problem across the country. The vector species carrying dengue infection has progressively started to developed resistance against most of the currently used insecticides. Hence, a study was carried out in dengue-endemic areas of Assam and Arunachal Pradesh to find the current situation of insecticide susceptibility status of dengue vectors. Based on the previous history of dengue incidence, Aedes mosquitoes were collected from Dibrugarh, Kamrup, Sivasagar, Tezpur and Tinsukia districts in Assam and Pasighat district in Arunachal Pradesh to test the insecticide resistance status through bioassay and molecular methods...
July 2018: Indian Journal of Medical Microbiology
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